protein phosphatase 1, regulatory subunit 135
oligosaccharyltransferase 1 homolog (S. cerevisiae)
oligosaccharyltransferase complex subunit (non-catalytic)
protein phosphatase 1, regulatory subunit 137
protein phosphatase 1, regulatory subunit 138
amiloride-sensitive sodium channel subunit alpha
amiloride-sensitive sodium channel subunit beta
amiloride-sensitive sodium channel subunit gamma
ARS-interacting multifunctional protein 1
centrosomal colon cancer autoantigen protein
succinate dehydrogenase [ubiquinone] flavoprotein subunit
succinate dehydrogenase [ubiquinone] iron-sulfur subunit
succinate dehydrogenase cytochrome b560 subunit
Template-Activating Factor-I, chromatin remodelling factor
Polypyrimidine tract binding protein associated
protein phosphatase 1, regulatory subunit 140
surfactant, pulmonary-associated protein A1A
surfactant, pulmonary-associated protein A2A
limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)
Maghrebian myopathy (autosomal recessive)
natural resistance-associated macrophage protein 1
glutamate transporter variant EAAT1ex9skip
alanine/serine/cysteine/threonine transporter
mitochondrial aspartate glutamate carrier 2
fatty-acid-Coenzyme A ligase, very long-chain 3
BRCA1/BRCA2-containing complex, subunit 1
protein phosphatase 1, regulatory subunit 53
solute carrier family 17 (sodium phosphate), member 2
BRCA1/BRCA2-containing complex, subunit 2
protein phosphatase 1, regulatory subunit 143
global transcription activator homologous sequence
mitotic growth and transcription activator
protein phosphatase 1, regulatory subunit 144
sucrose nonfermenting, yeast, homolog-like 1
chromatin remodeling complex BAF60B subunit
mammalian chromatin remodeling complex BRG1-associated factor 60B
resistance to inhibitors of cholinesterase 4 homolog
dystrophin-associated protein A1, 59kDa, acidic component
pro-TGF-alpha cytoplasmic domain-interacting protein 1
Bax antagonist selected in Saccharomyces 1
negative regulatory element-binding protein
LDLR relative with 11 ligand-binding repeats
dominant megacolon, mouse, human homolog of
secreted protein acidic and rich in cysteine
Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
short chain dehydrogenase/reductase family 38C, member 1
cancer/testis antigen family 5, member 1
cancer/testis antigen family 5, member 2a
sarcoma, synovial, X-chromosome-related 2
synovial sarcoma, X breakpoint 2, isoform b
StAR related lipid transfer (START) domain containing 1
transcription factor ISGF-3 components p91/p84
synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
TATA box binding protein (TBP)-associated factor 4B
Transcription initiation factor TFIID subunit 13
transcriptional coactivator with PDZ-binding motif
Williams-Beuren syndrome chromosome region 13
cytochrome P450, family 5, subfamily A, polypeptide 1
T7 helicase-related protein with intramitochondrial nucleoid localization
E2A immunoglobulin enhancer-binding factor E12/E47
class B basic helix-loop-helix protein 19
prepro-transforming growth factor beta-1
prepro-transforming growth factor beta-2
prepro-transforming growth factor beta-3
activin A receptor type II-like kinase, 53kDa
K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
E polypeptide, protein-glutamine-gamma-glutamyltransferase
protein-glutamine gamma-glutamyltransferase 5
megakaryocyte growth and development factor
myeloproliferative leukemia virus oncogene ligand
avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2
generalized resistance to thyroid hormone
T-cell-restricted intracellular antigen-1
Friedreich ataxia region gene X104 (tight junction protein ZO-2)
Vascular endothelial cell growth inhibitor
Vascular endothelial growth inhibitor-192A
tumor necrosis factor (ligand) superfamily member 5
troponin I, fast-twitch skeletal muscle isoform
T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster
T-cell antigen receptor, gamma polypeptide
golgi-microtubule-associated-protein of 210 kDa
protein phosphatase 1, regulatory subunit 160
killer activating receptor associated protein
POC20 centriolar protein homolog (Chlamydomonas)
UBA1, ubiquitin-activating enzyme E1 homolog (yeast)
orotate phosphoribosyl transferase and orotidine-5'-decarboxylase
POC7 centriolar protein homolog A (Chlamydomonas)
uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
ubiquinol-cytochrome c reductase, complex III subunit VI
transitional endoplasmic reticulum ATPase
protein phosphatase 1, regulatory subunit 163
vascular endothelial growth factor-related protein
TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)
multiple myeloma SET domain containing protein
short chain dehydrogenase/reductase family 41C, member 1
chromosome region maintenance 1 homolog (yeast)
solute carrier family 53 (phosphate exporter), member 1
X-ray repair, complementing defective, repair in Chinese hamster
protein phosphatase 1, regulatory subunit 170
protein phosphatase 1, regulatory subunit 92
calcium-transporting ATPase type 2C member 1
tRNA methyltransferase 7 homolog (S. cerevisiae)
nicotinamide adenine dinucleotide phosphate oxidase
GRIP1-dependent nuclear receptor coactivator
short chain dehydrogenase/reductase family 31E, member 1
urate voltage-driven efflux transporter 1
Potential phospholipid-transporting ATPase IH
fenestrated-endothelial linked structure protein; PV-1 protein
11 zinc finger transcriptional repressor
sensitization to ricin complex subunit 1
myogenesis-related and NCAM-associated protein homolog (chicken)
forkhead/winged-helix transcription factor
Transmembrane protein 16C (eight membrane-spanning domains)
protein phosphatase 1, regulatory subunit 90
conserved gene telomeric to alpha globin cluster
B-cell adapter containing a SH2 domain protein
Src homology [SH2] domain-containing leukocyte protein of 65 kD
proline rich synapse associated protein 2
myocardin-related transcription factor A
complement-c1q tumor necrosis factor-related protein 5
telomerase regulation-associated protein
telomerase transcriptional elements-interacting factor
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
ALK lymphoma oligomerization partner on chromosome 17
protein phosphatase 1, regulatory subunit 167
Sicca syndrome antigen A (autoantigen Ro; calreticulin)
long intergenic non-protein coding RNA 23
calcium/calmodulin-dependent protein kinase II alpha-B subunit
calcium/calmodulin-dependent protein kinase type II alpha chain
calcium/calmodulin-dependent protein kinase type II beta chain
proline rich calmodulin-dependent protein kinase
GDP-fucose protein O-fucosyltransferase 1
calsequestrin 1, fast-twitch, skeletal muscle
lymphoepithelial Kazal-type-related inhibitor
interleukin-1 receptor antagonist homolog 1
glioblastoma expressed ring finger protein
dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
dol-P-Man dependent alpha-1,2-mannosyltransferase
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
Z-band alternatively spliced PDZ motif protein
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
succinate-hydroxymethylglutarate CoA-transferase
tricothiodystrophy, non-photosensitive 1
particularly interesting new Cys-His protein 2
skeletal muscle myosin light chain kinase
testis and spermatogenesis related gene 4
protein-glutamine gamma-glutamyltransferase 6
transcriptional intermediary factor 1 gamma
hepatocellular carcinoma associated protein
hepatocellular carcinoma-associated protein HCA10
protein phosphatase 1, regulatory subunit 157
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4
39S ribosomal protein L44, mitochondrial
Early B-cell factor associated zinc finger protein
Smad- and Olf-interacting zinc finger protein
T-cell surface glycoprotein CD3 zeta chain
Paf1/RNA polymerase II complex component
C-terminal PDZ domain ligand of neuronal nitric oxide synthase
striated muscle preferentially expressed protein kinase
virion-associated nuclear-shuttling protein
Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
Swi2/Snf2-related ATPase homolog (S. cerevisiae)
B-cell antigen receptor complex-associated protein alpha chain
B-cell antigen receptor complex-associated protein beta chain
REST/NRSF interacting LIM domain protein
translocation in renal carcinoma, chromosome 8
dimethyladenosine transferase 1, mitochondrial
pyrimidine tract binding splicing factor
Rho-specific guanine nucleotide exchange factor p114
homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)
dicer 1, double-stranded RNA-specific endoribonuclease
cell adhesion molecule-related/down-regulated by oncogenes
biogenesis of lysosomal organelles complex-1, subunit 8
U4/U6 small nuclear ribonucleoprotein Prp4
peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)
phenylalanine tRNA ligase 1, beta, cytoplasmic
microtubule interacting protein that associates with TRAF3
Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
androgen-regulated short-chain dehydrogenase/reductase 1
short chain dehydrogenase/reductase family 7C, member 1
protein phosphatase 1, regulatory subunit 98
osmosensitive transient receptor potential channel 4
ATPase family gene 2 homolog (S. cerevisiae)
adipocyte-derived leucine aminopeptidase
aminopeptidase regulator of TNFR1 shedding
puromycin-insensitive leucyl-specific aminopeptidase
short chain dehydrogenase/reductase family 11E, member 3
intraflagellar transport 144 homolog (Chlamydomonas)
TIR domain-containing adapter molecule 1
T-cell immunoglobulin mucin family member 3
protein phosphatase 1, regulatory subunit 61
DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1
membrane-associated phospholipase A1 beta
ATP-binding cassette sub-family C, member 7
dol-P-Man dependent GPI mannosyltransferase
Sequence like a calcium-activated K+ channel
melanoma differentiation-associated gene 5
linker for activation of T cells, transmembrane adaptor
short chain dehydrogenase/reductase family 20C, member 1
POC10 centriolar protein homolog (Chlamydomonas)
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
cilia and flagella associated protein 23
dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
dol-P-Man dependent alpha-1,6-mannosyltransferase
Protein phosphatase 1, regulatory subunit 31
Chimerin 1 (GTPase-activating protein, rho, 2)
acetylcholine receptor, nicotinic, alpha 1 (muscle)
acetylcholine receptor, nicotinic, alpha 2 (neuronal)
acetylcholine receptor, nicotinic, alpha 4 (neuronal)
acetylcholine receptor, nicotinic, alpha 7 (neuronal)
acetylcholine receptor, nicotinic, beta 1 (muscle)
acetylcholine receptor, nicotinic, beta 2 (neuronal)
acetylcholine receptor, nicotinic, delta (muscle)
acetylcholine receptor, nicotinic, epsilon (muscle)
acetylcholine receptor, nicotinic, gamma (muscle)
mitochondrial 2-enoyl thioester reductase
Phosphatidic acid-preferring phospholipase A1
Soluble Ca-Activated Nucleotidase, isozyme 1
Dolichyl-phosphate-mannose--protein mannosyltransferase
inhibitor of nuclear factor kappa-B kinase subunit alpha
UTP4, small subunit (SSU) processome component, homolog (yeast)
Dvl-associating protein with a high frequency of leucine residues
short chain dehydrogenase/reductase family 7C, member 2
protein phosphatase 1, regulatory subunit 147
protein phosphatase 1, regulatory subunit 63
iron-sulfur protein required for NADH dehydrogenase
chromosome alignment-maintaining phosphoprotein
short chain dehydrogenase/reductase family 2E, member 1
senescence-associated epithelial membrane protein 1
VPS33B interacting protein, apical-basolateral polarity regulator
hypomagnesemia 3, with hypercalciuria and nephrocalcinosis
cilia and flagella associated protein 67
oculocutaneous albinism 6 (autosomal recessive)
jumonji C domain-containing histone demethylase 1F
Guanine nucleotide-binding protein subunit beta-4
ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human
Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
glutamyl-tRNA(Gln) amidotransferase, subunit A
transport and golgi organization 14 homolog (Drosophila)
Phenylalanine tRNA ligase 2, mitochondrial
POZ (BTB) and AT hook containing zinc finger 2
E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor
DNA repair syndrome trichothiodystrophy group A
GID complex subunit 7 homolog (S. cerevisiae)
cytochrome B protein synthesis 6 homolog (S. cerevisiae)
lamina-associated polypeptide-emerin-MAN1 domain containing 2
tetraspan membrane protein of hair cell stereocilia
arginine tRNA ligase 2, mitochondrial (putative)
cyclic nucleotide-gated cation channel beta-1
second mitochondria-derived activator of caspase
BRCA1-associated protein required for ATM activation protein 1
collagen of skin, tendon and bone, alpha-2 chain
collagen of basement membrane, alpha-4 chain
acetylcholinesterase-associated collagen
collagenic tail of endplate acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
coatomer protein complex subunit beta prime
protoheme IX farnesyltransferase, mitochondrial
mannose-1-phosphate guanyltransferase beta
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
carbohydrate deficient glycoprotein syndrome type IV
dol-P-Man dependent alpha-1,3- mannosyltransferase
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
UBA5, ubiquitin-activating enzyme E1 homolog (yeast)
oculocutaneous albinism 7, autosomal recessive
RIP-associated ICH1/CED3-homologous protein with death domain
long intergenic non-protein coding RNA 48
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
prolyl 3-hydroxylase family member 5 (non-enzymatic)
Coxsackie- and adenovirus receptor-like membrane protein
ADP-ribosylation factor-like tumor suppressor gene 1
blinkin, bub-linking kinetochore protein
protein phosphatase 1, regulatory subunit 55
thiomorpholine-carboxylate dehydrogenase
endoplasmic reticulum intermembrane small protein
cilia and flagella associated protein 37
alpha-ketoglutarate-dependent dioxygenase
Fibronectin type III, immunoglobulin and leucine rich repeat domains 4
glycine, glutamate, thienylcyclohexylpiperidine binding protein
P-TEFb-interaction protein for 7SK stability
Hepatocellular carcinoma related protein 1
tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)
dihydrodipicolinate synthetase homolog 2 (E. coli)
N-acetylneuraminate pyruvate lyase 2 (putative)
neural plakophilin-related arm-repeat protein
protein phosphatase 1, regulatory subunit 20
branched-chain α-ketoacid dehydrogenase phosphatase
branched-chain Î±-ketoacid dehydrogenase phosphatase
PP2C-type mitochondrial phosphoprotein phosphatase
membrane protein-associated neurodegeneration
neurodegeneration with brain iron accumulation 4
Galpha-interacting vesicle-associated protein
ATP-dependent NAD(P)H-hydrate dehydratase
cysteine tRNA ligase 2, mitochondrial (putative)
mutated in poikiloderma with neutropenia protein 1
calcium release-activated calcium modulator 1
sodium-dependent lysophosphatidylcholine symporter 1
protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
cholesterol monooxygenase (side-chain-cleaving)
GPI ethanolamine phosphate transferase 2
Myc-induced SUN-domain-containing protein
tRNA methyltransferase 4 homolog (S. cerevisiae)
DNA segment on chromosome X (unique) 9879 expressed sequence
flagellar protein 69 homolog (Chlamydomonas)
Conserved telomere maintenance component 1
egg-derived tyrosine phosphatase homolog (Drosophila)
ciliogenesis and planar polarity effector 3
short chain dehydrogenase/reductase family 10E, member 1
Sensor of single-strand DNA complex subunit B2
asparagine tRNA ligase 2, mitochondrial (putative)
protein phosphatase 1, regulatory subunit 166
coiled-coil protein associated with myosin II and DISC1
Adenomatous polyposis coli membrane recruitment 1
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
immunoglobulin superfamily, DCC subclass, member 1
JJJ1 DnaJ domain protein homolog (S. cerevisiae)
RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein
advanced glycation end-product receptor 1
Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
CHL1-like helicase homolog (S. cerevisiae)
ciliogenesis and planar polarity effector 5
inversely correlated with estrogen receptor expression
functional spliceosome-associated protein 35
sister chromatid cohesion 2 homolog (yeast)
oligosaccharyltransferase 3 homolog B (S. cerevisiae)
H/ACA ribonucleoprotein complex subunit 4
neurodegeneration with brain iron accumulation 5
dihydrolipoyllysine-residue acetyltransferase
E2 component of pyruvate dehydrogenase complex
E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
cilia and flagella associated protein 81
POC3 centriolar protein homolog (Chlamydomonas)
protein phosphatase 1, regulatory subunit 82
brefeldin A resistant Arf-guanine nucleotide exchange factor 1
synectin-binding guanine exchange factor
Dihydrolipoyllysine-residue succinyltransferase
protein phosphatase 1, regulatory subunit 134
strumpellin and WASH-interacting protein
muscular dystrophy, Duchenne and Becker types
protein phosphatase 1, regulatory subunit 142
myotonic dystrophy associated protein kinase
ankyrin repeat-rich membrane-spanning protein
ubiquinol-cytochrome c reductase, complex III subunit VII
[acyl-carrier-protein] S-malonyltransferase
mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction
Mitogen activated protein binding protein interacting protein
5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase
OGT(O Glc NAc transferase) interacting protein 106 KDa
O-linked N-acetylglucosamine transferase interacting protein 106
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
oligosaccharyltransferase 3 homolog A (S. cerevisiae)
phosphatidylinositol-n-acetylglucosaminyltranferase subunit
Interferon induced transmembrane protein domain containing 1
mitochondrial import inner membrane translocase subunit TIM14
outer row dynein assembly 7 homolog (Chlamydomonas)
proline tRNA ligase 2, mitochondrial (putative)
synaptotagmin-like homologue lacking C2 domains b
O-phosphoseryl-tRNA(Sec) selenium transferase
soluble liver antigen/liver pancreas antigen
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B
dolichyl-diphosphooligosaccharide protein glycotransferase
source of immunodominant MHC associated peptides
ankyrin-repeat containing bacterial clp fusion
suppressor of potassium transport defect 3
radial spoke 16 homolog A (Chlamydomonas)
kinetochore-localized astrin-binding protein
Transcription repressor p66 beta component of the MeCP1 complex
116 kDa U5 small nuclear ribonucleoprotein component
bad response to refrigeration 2 homolog (S. cerevisiae)
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
Diabetes Associated Protein in Insulin-sensitive Tissues
Sec insertion sequence-binding protein 2
Selenocysteine insertion sequence-binding protein 2
transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
protein phosphatase 1, regulatory subunit 88
WD protein associating with integrin cytoplasmic tails 1
erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
lysophosphatidic acid acyltransferase-beta
lysophosphatidic acid acyltransferase, beta
eukaryotic translation initiation factor 2G
flagellar associated protein 221 homolog (Chlamydomonas)
primary ciliary dyskinesia 1 homolog (mouse)
skeletal muscle and kidney enriched inositol phosphatase
L-alanine: glyoxylate aminotransferase 1
human epidermal growth factor receptor 3
human epidermal growth factor receptor 4
excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
TFIIH basal transcription factor complex helicase XPB subunit
xeroderma pigmentosum group B complementing
xeroderma pigmentosum, complementation group F
transcriptional regulator ERG (transforming protein ERG)
v-ets erythroblastosis virus E26 oncogene like
nuclear receptor subfamily 3 group A member 1
nuclear receptor subfamily 3 group A member 2
Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
long-chain fatty-acid-Coenzyme A ligase 4
Fas-associating death domain-containing protein
Fas-associating protein with death domain
X-ray repair, complementing defective, in Chinese hamster, 9
X-ray repair complementing defective repair in Chinese hamster cells 9
autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
fibroblast growth factor homologous factor 1
murine mammary tumor virus integration site 2, mouse
V-INT2 murine mammary tumor virus integration site oncogene homolog
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
D-ribitol-5-phosphate cytidylyltransferase
vascular endothelial growth factor receptor 1
Dimethylaniline monooxygenase [N-oxide-forming] 3
centrosome- and golgi-localized protein kinase N-associated protein
protein phosphatase 1, regulatory subunit 45
dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III
chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4
dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
FK506 binding protein 12-rapamycin associated protein 2
FKBP12-rapamycin complex-associated protein 1
neurodegeneration with brain iron accumulation 3
heterogeneous nuclear ribonucleoprotein P2
short chain dehydrogenase/reductase family 35C, member 1
adhesion and degranulation promoting adaptor protein
glycogen storage disease type I, von Gierke disease
Delta-1-pyrroline-5-carboxylate dehydrogenase
L-glutamate gamma-semialdehyde dehydrogenase
short chain dehydrogenase/reductase family 1E, member 1
cartilage-derived morphogenetic protein-1
glial cell line derived neurotrophic factor
oculodentodigital dysplasia (syndactyly type III)
Charcot-Marie-Tooth neuropathy, X-linked
tax-responsive element-2 holding protein
Guanine nucleotide-binding protein G(k) subunit alpha
tissue non-specific alkaline phosphatase
guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
Long intergenic non-protein coding RNA associated with HELLP syndrome
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
Guanine nucleotide-binding protein subunit beta-5
dihydroxyacetone phosphate acyltransferase
glycoprotein nonmetastatic melanoma protein B
hematopoietic growth factor inducible neurokinin-1
N-methyl-d-aspartate receptor subunit 2D
protein phosphatase 1, regulatory subunit 85
Transcription initiation factor IIE subunit beta
Muellerian inhibiting substance type II receptor
rod outer segment membrane guanylate cyclase
long intergenic non-protein coding RNA 8
GDH/6PGL endoplasmic bifunctional protein
short chain dehydrogenase/reductase family 5C, member 1
type 10 17beta-hydroxysteroid dehydrogenase
long-chain-3-hydroxyacyl-CoA dehydrogenase
mitochondrial trifunctional protein, alpha subunit
mitochondrial trifunctional protein, beta subunit
histidine tRNA ligase 2, mitochondrial (putative)
protein phosphatase 1, regulatory subunit 89
proliferation-associated SNF2-like protein
SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
age-related maculopathy susceptibility 1
fibroblast-derived tumor cytotoxic factor
transformation upregulated nuclear protein
Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)
homeo box 11 (T-cell lymphoma 3-associated breakpoint)
15-hydroxyprostaglandin dehydrogenase (NAD(+))
short chain dehydrogenase/reductase family 36C, member 1
short chain dehydrogenase/reductase family 26C, member 1
short chain dehydrogenase/reductase family 9C, member 3
short chain dehydrogenase/reductase family 12C, member 2
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
short chain dehydrogenase/reductase family 8C, member 1
short chain dehydrogenase/reductase family 11E, member 2
radial spoke 16 homolog B (Chlamydomonas)
nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2
activation-inducible lymphocyte immunomediatory molecule
isocitrate dehydrogenase (NAD+) alpha chain
isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
NAD(H)-specific isocitrate dehydrogenase alpha subunit
clathrin assembly protein complex 1 sigma-1A small chain
clathrin-associated/assembly/adaptor protein, small 1 (19kD)
golgi adaptor HA1/AP1 adaptin sigma-1A subunit
sigma1A subunit of AP-1 clathrin adaptor complex
clathrin adaptor complex AP2, mu subunit
clathrin assembly protein complex 2 medium chain
clathrin-associated/assembly/adaptor protein, medium 1
plasma membrane adaptor AP-2 50kDA protein
Suppressor of hairless homolog (Drosophila)
adaptor-related protein complex AP-4 mu4 subunit
protein phosphatase 1, regulatory subunit 46
elongator acetyltransferase complex subunit 1
cytotoxic lymphocyte maturation factor 1, p35
natural killer cell stimulatory factor 1, 35 kD subunit
cytotoxic lymphocyte maturation factor 2, p40
natural killer cell stimulatory factor-2
natural killer cell stimulatory factor, 40 kD subunit
sulfonylurea receptor (hyperinsulinemia)
interleukin-1 receptor antagonist protein
intracellular interleukin-1 receptor antagonist
phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2
SH2 domain-containing inositol 5'-phosphatase 2
platelet glycoprotein IIb of IIb/IIIa complex
protein phosphatase 1, regulatory subunit 93
complement component 3 receptor 3 subunit
complement component 3 receptor 3 and 4 subunit
protein phosphatase 1, regulatory subunit 94
cilia and flagella associated protein 48
ATP-sensitive inward rectifier potassium channel 1
ATP-sensitive inward rectifier potassium channel 11
G protein-activated inward rectifier potassium channel 4
small conductance calcium-activated potassium channel 3
intermediate conductance calcium-activated potassium channel
small conductance calcium-activated potassium channel 4
KCNQ1 antisense RNA 2 (non-protein coding)
KCNQ1 overlapping transcript 1 (non-protein coding)
vascular endothelial growth factor receptor 2
mast/stem cell growth factor receptor Kit
familial progressive hyperpigmentation 2
epidermolysis bullosa simplex, Dowling-Meara, Koebner
focal non-epidermolytic palmoplantar keratoderma
phosphatidylcholine--sterol O-acyltransferase
interstitial cell stimulating hormone, beta chain
polydeoxyribonucleotide synthase [ATP] 4
endoplasmic reticulum-golgi intermediate compartment protein 53
phosphatidylcholine--retinol O-acyltransferase
transforming growth factor-β receptor type V
polymerase (DNA-directed), zeta 2, accessory subunit
Endoplasmic reticulum alpha-mannosidase 1
endoplasmic Reticulum Class I alpha-mannosidase
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
Man9GlcNAc2-specific processing alpha-mannosidase
protein phosphatase 1, regulatory subunit 102
Rac/Cdc42 guanine exchange factor (GEF) 6
rho guanine nucleotide exchange factor 6
G protein beta1/gamma2 subunit-interacting factor 1
microtubule-associated protein tau, isoform 4
protein phosphatase 1, regulatory subunit 103
C4/C2 activating component of Ra-reactive factor
alpha melanocyte stimulating hormone receptor
BRCT-repeat inhibitor of TERT expression 1
methylated-DNA--protein-cysteine methyltransferase
nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing
POC12 centriolar protein homolog (Chlamydomonas)
malonate-semialdehyde dehydrogenase (acetylating)
molybdopterin synthase catalytic subunit
mitochondrially encoded ATP synthase membrane subunit a
mitochondrially encoded ATP synthase membrane subunit A6L
mitochondrial open-reading-frame of the twelve S rRNA type-c
myosin, skeletal, heavy chain, embryonic 1
cardiac ventricular myosin light chain 2
myosin, atrial/fetal muscle, light chain
trabecular meshwork inducible glucocorticoid response protein
neural zinc finger transcription factor 1
nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
chronic granulomatous disease, autosomal 1
chronic granulomatous disease, autosomal 2
[Heparan sulfate]-glucosamine N-sulfotransferase 1
heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
NADH:ubiquinone oxidoreductase (complex 1)
NADH-ubiquinone oxidoreductase MLRQ subunit
Short chain dehydrogenase/reductase family 22E, member 1
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
protein phosphatase 1, regulatory subunit 110
protein phosphatase 1, regulatory subunit 111
coding sequence signal peptide antithrombin part 1
neurogenic helix-loop-helix protein NEUROD
tonicity-responsive enhancer binding protein
non-Pou domain-containing octamer (ATGCAAAT) binding protein
protein phosphatase 1, regulatory subunit 114
NOT3 (negative regulator of transcription 3, yeast) homolog
cilia and flagella associated protein 31
Nucleophosmin/nucleoplasmin family, member 1
phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
TEL1, telomere maintenance 1, homolog (S. cerevisiae)
sodium-potassium ATPase catalytic subunit alpha-1
sodium/potassium-transporting ATPase subunit alpha-1
sodium-potassium ATPase catalytic subunit alpha-2
sodium/potassium-transporting ATPase subunit alpha-2
sodium-potassium ATPase catalytic subunit alpha-3
sodium/potassium-transporting ATPase subunit alpha-3
high affinity nerve growth factor receptor
tight junction protein occludin TM4 minus
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Dynamin-like 120 kDa protein, mitochondrial
plasma membrane calcium-transporting ATPase 2
cilia and flagella associated protein 39
Plasma membrane calcium-transporting ATPase 3
origin recognition complex, subunit 1, S. cerevisiae, homolog-like
Oncostatin-M-specific receptor subunit beta
protein disulfide isomerase-associated 1
protein disulfide isomerase family A, member 1
bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)
pterin-4-alpha carbinolamine dehydratase
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
cGMP-inhibited 3',5'-cyclic phosphodiesterase A
alpha-aminoadipic semialdehyde dehydrogenase
delta1-piperideine-6-carboxylate dehydrogenease
cAMP-specific 3',5'-cyclic phosphodiesterase 4D
Phosphodiesterase E3 dunce homolog (Drosophila)
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
congenital stationary night blindness 3, autosomal dominant
rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B
pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
neoendorphin-dynorphin-enkephalin prepropeptide
MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
protein phosphatase 1, regulatory subunit 122
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
prepro-arginine-vasopressin-neurophysin II
phosphatidylinositol N-acetylglucosaminyltransferase
N-acetylglucosaminylphosphatidylinositol deacetylase
phosphatidylinositol 3-kinase, catalytic, delta polypeptide
phosphoinositide-3-kinase regulatory subunit alpha
phosphoinositide-3-kinase regulatory subunit beta
transient receptor potential cation channel, subfamily P, member 1
transient receptor potential cation channel, subfamily P, member 2
ectodermal dysplasia/skin fragility syndrome
Neurodegeneration with brain iron accumulation 2
protein phosphatase 1, regulatory subunit 49
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
polymyositis/scleroderma autoantigen 1 (75kD)
DNA polymerase epsilon catalytic subunit A
dolichyl-phosphate-mannose-protein mannosyltransferase
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
protein phosphatase, Mg2+/Mn2+ dependent 2A
protein phosphatase 2, 65kDa regulatory subunit A
protein phosphatase 2A, regulatory subunit A, alpha isoform
protein phosphatase 2A structural subunit A, alpha isoform
protein phosphatase 2B, catalytic subunit, alpha isoform
ceroid-lipofuscinosis, neuronal 1, infantile
deafness, neurosensory, autosomal recessive, 61
bG174L6.2 (MSF: megakaryocyte stimulating factor )
camptodactyly, arthropathy, coxa vara, pericarditis syndrome
Jacobs camptodactyly-arthropathy-pericarditis syndrome
BAG family molecular chaperone regulator 3
advanced glycation end-product receptor 2
DNA-dependent protein kinase catalytic subunit
protein activator of the interferon-induced protein kinase
endoplasmic reticulum DNA J domain-containing protein 6
interferon-induced, double-stranded RNA-activated protein kinase inhibitor
variant Gaucher disease and variant metachromatic leukodystrophy
cytochrome P450, family 8, subfamily A, polypeptide 1
parathyroid hormone-like hormone preproprotein
parathyroid hormone-related protein preproprotein
Williams-Beuren syndrome chromosome region 10
Williams-Beuren syndrome chromosome region 9
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
osteoclastic transmembrane protein-tyrosine phosphatase
short chain dehydrogenase/reductase family 33C, member 1
BRCA1/BRCA2-containing complex, subunit 5
C-Raf proto-oncogene, serine/threonine kinase
V(D)J recombination-activating protein 1
capillary malformation-arteriovenous malformation
calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II
calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
prepro-retinoblastoma-associated protein
protein phosphatase 1, regulatory subunit 130
CARD-containing apoptotic signaling protein
CARD containing molecule enhancing NF-kB
caspase-recruiting domain-containing protein
protein phosphatase 1, regulatory subunit 50
short chain dehydrogenase/reductase family 9C, member 5
ankyrin repeat-containing regulatory factor X-associated protein
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
F12-related hereditary angioedema with normal C1Inh
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Porphyria due to ALA dehydratase deficiency
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal recessive spastic paraplegia type 5A
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 19
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 31
Female restricted epilepsy with intellectual disability
Autosomal dominant epilepsy with auditory features
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 4
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive dopa-responsive dystonia
X-linked Alport syndrome-diffuse leiomyomatosis
Early-onset autosomal dominant Alzheimer disease
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aniridia-cerebellar ataxia-intellectual disability syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Neurogenic arthrogryposis multiplex congenita
Infantile-onset X-linked spinal muscular atrophy
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Progressive pseudorheumatoid arthropathy of childhood
Autosomal recessive cerebelloparenchymal disorder type 3
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Lethal ataxia with deafness and optic atrophy
TMEM70-related mitochondrial encephalo-cardio-myopathy
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant congenital benign spinal muscular atrophy
Congenital intrauterine infection-like syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-arterial hypertension syndrome
Autosomal dominant popliteal pterygium syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Overgrowth-macrocephaly-facial dysmorphism syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Neurological conditions associated with aminoacylase 1 deficiency
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
X-linked intellectual disability-cerebellar hypoplasia syndrome
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Hypotonia with lactic acidemia and hyperammonemia
Cataract-intellectual disability-hypogonadism syndrome
Encephalopathy due to prosaposin deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Microphthalmia with brain and digit anomalies
Autosomal recessive spastic paraplegia type 39
Autosomal recessive ataxia due to ubiquinone deficiency
NON RARE IN EUROPE: Hemochromatosis type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy, Jerash type
X-linked distal spinal muscular atrophy type 3
Mutilating hereditary sensory neuropathy with spastic paraplegia
X-linked hereditary sensory and autonomic neuropathy with deafness
Distal hereditary motor neuropathy type 7
6-pyruvoyl-tetrahydropterin synthase deficiency
Primary intraosseous venous malformation
Autosomal dominant slowed nerve conduction velocity
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Stapes ankylosis with broad thumbs and toes
Titin-related limb-girdle muscular dystrophy R10
Benign familial neonatal-infantile seizures
Short stature due to primary acid-labile subunit deficiency
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Autosomal dominant macrothrombocytopenia
Bilateral microtia-deafness-cleft palate syndrome
Palmoplantar keratoderma, Nagashima type
External auditory canal aplasia/hypoplasia
Familial calcium pyrophosphate deposition
Chondrodysplasia-disorder of sex development syndrome
Hereditary breast and ovarian cancer syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Atrial septal defect-atrioventricular conduction defects syndrome
Carbamoyl-phosphate synthetase 1 deficiency
NON RARE IN EUROPE: Ventricular septal defect
Lethal congenital contracture syndrome type 1
Corneal dystrophy-perceptive deafness syndrome
Corpus callosum agenesis-neuronopathy syndrome
X-linked complicated corpus callosum dysgenesis
Hypertrichotic osteochondrodysplasia, Cantu type
Familial isolated dilated cardiomyopathy
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis marmorata telangiectatica congenita
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
Fatal infantile cytochrome C oxidase deficiency
Spondyloepimetaphyseal dysplasia, matrilin-3 type
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Carnitine palmitoyl transferase 1A deficiency
Hereditary hypophosphatemic rickets with hypercalciuria
Hypotrichosis with juvenile macular degeneration
Congenital or early infantile CACH syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction
Pterin-4 alpha-carbinolamine dehydratase deficiency
Combined immunodeficiency with granulomatosis
Oculoauricular syndrome, Schorderet type
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Congenital muscular dystrophy due to LMNA mutation
Epidermolysis bullosa simplex due to plakophilin deficiency
Dominant dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with pyloric atresia
Lethal acantholytic epidermolysis bullosa
Carnitine-acylcarnitine translocase deficiency
Spondyloepiphyseal dysplasia, Nishimura type
Cortical dysplasia-focal epilepsy syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Benign familial mesial temporal lobe epilepsy
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Limbic encephalitis with LGI1 antibodies
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability, Van Esch type
Hereditary hyperferritinemia-cataract syndrome
NON RARE IN EUROPE: Dementia with Lewy body
Familial mesial temporal lobe epilepsy with febrile seizures
Absence of fingerprints-congenital milia syndrome
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Beighton type
Multiple epiphyseal dysplasia, Al-Gazali type
Brachydactyly-short stature-retinitis pigmentosa syndrome
Autosomal dominant otospondylomegaepiphyseal dysplasia
FASTKD2-related infantile mitochondrial encephalomyopathy
Intellectual disability, Birk-Barel type
Porokeratotic eccrine ostial and dermal duct nevus
Dihydropyrimidine dehydrogenase deficiency
Spondyloepimetaphyseal dysplasia, Geneviève type
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis
Hyperandrogenism due to cortisone reductase deficiency
Sudden infant death-dysgenesis of the testes syndrome
Brain demyelination due to methionine adenosyltransferase deficiency
Congenital enteropathy due to enteropeptidase deficiency
Seborrhea-like dermatitis with psoriasiform elements
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein
Familial scaphocephaly syndrome, McGillivray type
Autosomal thrombocytopenia with normal platelets
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Combined immunodeficiency due to CD3gamma deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Severe combined immunodeficiency due to FOXN1 deficiency
Recurrent infection due to specific granule deficiency
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Autosomal recessive centronuclear myopathy
Autosomal dominant centronuclear myopathy
Recurrent Neisseria infections due to factor D deficiency
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Metabolic myopathy due to lactate transporter defect
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Autosomal dominant spastic paraplegia type 42
Spondyloepimetaphyseal dysplasia, aggrecan type
Generalized pseudohypoaldosteronism type 1
Metaphyseal chondrodysplasia, Schmid type
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
Symptomatic form of hemophilia A in female carriers
Symptomatic form of hemophilia B in female carriers
Moderate multiminicore disease with hand involvement
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteopetrosis-hypogammaglobulinemia syndrome
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Distal myopathy with anterior tibial onset
X-linked myopathy with postural muscle atrophy
Hereditary myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Obesity due to leptin receptor gene deficiency
Autosomal dominant spondylocostal dysostosis
Fatal infantile lactic acidosis with methylmalonic aciduria
Isolated congenital breast hypoplasia/aplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
X-linked hypohidrotic ectodermal dysplasia
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Hermansky-Pudlak syndrome with neutropenia
Bacterial susceptibility due to TLR signaling pathway deficiency
Spondyloperipheral dysplasia-short ulna syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
TRIM32-related limb-girdle muscular dystrophy R8
Cushing syndrome due to macronodular adrenal hyperplasia
Primary pigmented nodular adrenocortical disease
Familial isolated hypoparathyroidism due to impaired PTH secretion
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Early infantile epileptic encephalopathy
Progressive epilepsy-intellectual disability syndrome, Finnish type
Bilateral striopallidodentate calcinosis
Corticosteroid-binding globulin deficiency
Hereditary hypercarotenemia and vitamin A deficiency
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Endocrine-cerebro-osteodysplasia syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Congenital fiber-type disproportion myopathy
Gingival fibromatosis-hypertrichosis syndrome
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Anoctamin-5-related limb-girdle muscular dystrophy R12
Fukutin-related limb-girdle muscular dystrophy R13
POMT2-related limb-girdle muscular dystrophy R14
POMGNT1-related limb-girdle muscular dystrophy R15
Autosomal recessive lower motor neuron disease with childhood onset
Isolated asymptomatic elevation of creatine phosphokinase
Gamma-aminobutyric acid transaminase deficiency
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Glycogen storage disease due to hepatic glycogen synthase deficiency
Autosomal dominant adult-onset proximal spinal muscular atrophy
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Severe neonatal-onset encephalopathy with microcephaly
Autosomal dominant rhegmatogenous retinal detachment
NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Cone dystrophy with supernormal rod response
Autosomal recessive spastic paraplegia type 18
Sterile multifocal osteomyelitis with periostitis and pustulosis
Inherited congenital spastic tetraplegia
Lethal polymalformative syndrome, Boissel type
Congenital lethal myopathy, Compton-North type
Macrocephaly-intellectual disability-autism syndrome
Solitary fibrous tumour/hemangiopericytoma
Hereditary site-specific ovarian cancer syndrome
46,XX ovotesticular disorder of sex development
Lissencephaly type 1 due to doublecortin gene mutation
Hirschsprung disease-ganglioneuroblastoma syndrome
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Classic pantothenate kinase-associated neurodegeneration
Atypical pantothenate kinase-associated neurodegeneration
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
NON RARE IN EUROPE: Obesity due to MC3R deficiency
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2, attenuated form
REN-related autosomal dominant tubulointerstitial kidney disease
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Neurodegenerative syndrome due to cerebral folate transport deficiency
Combined immunodeficiency due to DOCK8 deficiency
Progressive polyneuropathy with bilateral striatal necrosis
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Neonatal acute respiratory distress due to SP-B deficiency
Chronic respiratory distress with surfactant metabolism deficiency
Sensorineural deafness with dilated cardiomyopathy
Hydrocephalus with stenosis of the aqueduct of Sylvius
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Palmoplantar keratoderma-esophageal carcinoma syndrome
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Xeroderma pigmentosum-Cockayne syndrome complex
Palmoplantar keratoderma-deafness syndrome
Bleeding diathesis due to thromboxane synthesis deficiency
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Familial cerebral cavernous malformation
Combined immunodeficiency with faciooculoskeletal anomalies
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Familial infantile bilateral striatal necrosis
Foveal hypoplasia-presenile cataract syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Maternally-inherited diabetes and deafness
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Genetic transient congenital hypothyroidism
Ichthyosis follicularis-alopecia-photophobia syndrome
Multiple system atrophy, cerebellar type
Autosomal recessive optic atrophy, OPA7 type
Severe combined immunodeficiency due to CORO1A deficiency
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Idiopathic ventricular fibrillation, non Brugada type
Autosomal dominant striatal neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, neonatal form
Spondylo-megaepiphyseal-metaphyseal dysplasia
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Monocytopenia with susceptibility to infections
Syndromic multisystem autoimmune disease due to Itch deficiency
Succinic semialdehyde dehydrogenase deficiency
Classical-like Ehlers-Danlos syndrome type 1
Ehlers-Danlos/osteogenesis imperfecta syndrome
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Combined immunodeficiency due to partial RAG1 deficiency
Autosomal recessive spondylocostal dysostosis
Transient familial neonatal hyperbilirubinemia
Beta-thalassemia-X-linked thrombocytopenia syndrome
Alpha-thalassemia-myelodysplastic syndrome
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis
Generalized dominant dystrophic epidermolysis bullosa
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
NON RARE IN EUROPE: Isolated keratoconus
Non-epidermolytic palmoplantar keratoderma
Keratosis follicularis spinulosa decalvans
Familial partial lipodystrophy, Dunnigan type
Early-onset parkinsonism-intellectual disability syndrome
Severe X-linked mitochondrial encephalomyopathy
Combined immunodeficiency due to CD27 deficiency
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Beckwith-Wiedemann syndrome due to NSD1 mutation
Isolated thyrotropin-releasing hormone deficiency
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Classic progressive supranuclear palsy syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Nijmegen breakage syndrome-like disorder
Dimethylglycine dehydrogenase deficiency
NON RARE IN EUROPE: Diabetes mellitus type 1
NON RARE IN EUROPE: Essential hypertension
Isolated split hand-split foot malformation
Biliary atresia with splenic malformation syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Hyperphosphatasia-intellectual disability syndrome
Autosomal dominant secondary polycythemia
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Juvenile cataract-microcornea-renal glucosuria syndrome
MUTYH-related attenuated familial adenomatous polyposis
APC-related attenuated familial adenomatous polyposis
Autosomal recessive ataxia due to PEX10 deficiency
Ectodermal dysplasia-syndactyly syndrome
NLRP12-associated hereditary periodic fever syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Autosomal recessive hypohidrotic ectodermal dysplasia
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Multiple benign circumferential skin creases on limbs
Corpus callosum agenesis-abnormal genitalia syndrome
Polymicrogyria with optic nerve hypoplasia
SATB2-associated syndrome due to a chromosomal rearrangement
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Autosomal dominant spastic ataxia type 1
Parietal foramina with clavicular hypoplasia
Pigmented paravenous retinochoroidal atrophy
Autosomal recessive primary microcephaly
Sickle cell-beta-thalassemia disease syndrome
Sickle cell-hemoglobin C disease syndrome
Sickle cell-hemoglobin D disease syndrome
Sickle cell-hemoglobin E disease syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Localized junctional epidermolysis bullosa, non-Herlitz type
Medulloblastoma with extensive nodularity
Autosomal recessive chorioretinopathy-microcephaly syndrome
Constitutional mismatch repair deficiency syndrome
Melanoma and neural system tumor syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Isolated microphthalmia-anophthalmia-coloboma
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Plectin-related limb-girdle muscular dystrophy R17
Temple syndrome due to paternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Genetic hyperferritinemia without iron overload
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial DNA depletion syndrome, myopathic form
Autosomal recessive progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Renal tubulopathy-encephalopathy-liver failure syndrome
Isolated cytochrome C oxidase deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Adult-onset autosomal recessive sideroblastic anemia
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Microphthalmia with linear skin defects syndrome
Early-onset generalized limb-onset dystonia
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Laminin subunit alpha 2-related congenital muscular dystrophy
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
X-linked myopathy with excessive autophagy
Mitochondrial myopathy and sideroblastic anemia
Autosomal recessive sideroblastic anemia
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to a ZEB2 point mutation
Familial adenomatous polyposis due to 5q22.2 microdeletion
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Spondyloepiphyseal dysplasia, Maroteaux type
Acute necrotizing encephalopathy of childhood
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism type II
Fibular aplasia-complex brachydactyly syndrome
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary pulmonary alveolar proteinosis
Autosomal dominant limb-girdle muscular dystrophy type 1A
Short chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Calpain-3-related limb-girdle muscular dystrophy R1
Hypomyelination neuropathy-arthrogryposis syndrome
RAS-associated autoimmune leukoproliferative disease
Thiamine-responsive maple syrup urine disease
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Isolated focal cortical dysplasia type Ia
Dysferlin-related limb-girdle muscular dystrophy R2
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Congenital non-communicating hydrocephalus
Arthrogryposis-renal dysfunction-cholestasis syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Noonan syndrome-like disorder with loose anagen hair
Oculocerebrofacial syndrome, Kaufman type
Congenital muscular dystrophy, Fukuyama type
Horizontal gaze palsy with progressive scoliosis
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Heritable pulmonary arterial hypertension
Drug- or toxin-induced pulmonary arterial hypertension
Pulmonary arterial hypertension associated with connective tissue disease
Behavioral variant of frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Severe combined immunodeficiency due to DCLRE1C deficiency
Bile acid CoA ligase deficiency and defective amidation
Malignant epithelial tumor of salivary glands
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Non-syndromic male infertility due to sperm motility disorder
NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia
Hemihyperplasia-multiple lipomatosis syndrome
Lower motor neuron syndrome with late-adult onset
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Sporadic pheochromocytoma/secreting paraganglioma
Symptomatic form of Coffin-Lowry syndrome in female carriers
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Multicentric carpo-tarsal osteolysis with or without nephropathy
Severe combined immunodeficiency due to adenosine deaminase deficiency
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis with renal tubular acidosis
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
NON RARE IN EUROPE: Age-related macular degeneration
NON RARE IN EUROPE: Paget disease of bone
Severe combined immunodeficiency due to LCK deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
X-linked sideroblastic anemia and spinocerebellar ataxia
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
PLIN1-related familial partial lipodystrophy
Autosomal semi-dominant severe lipodystrophic laminopathy
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile hypertonic myofibrillar myopathy
Chondrodysplasia with joint dislocations, gPAPP type
Hereditary sensorimotor neuropathy with hyperelastic skin
Familial progressive hyper- and hypopigmentation
Multiple congenital anomalies-hypotonia-seizures syndrome
Acrodysostosis with multiple hormone resistance
Megaconial congenital muscular dystrophy
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Severe intellectual disability and progressive spastic paraplegia
Pseudoxanthomatous diffuse cutaneous mastocytosis
Congenital reticular ichthyosiform erythroderma
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Autosomal recessive spastic paraplegia type 11
NON RARE IN EUROPE: Rheumatoid arthritis
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Adult-onset autosomal recessive cerebellar ataxia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Pleuropulmonary blastoma familial tumor susceptibility syndrome
Glycerol kinase deficiency, infantile form
Glycerol kinase deficiency, juvenile form
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Alopecia-intellectual disability syndrome
Phosphoenolpyruvate carboxykinase deficiency
Hypocalcemic vitamin D-dependent rickets
Autosomal recessive hypophosphatemic rickets
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Early-onset myopathy with fatal cardiomyopathy
Congenital cataract microcornea with corneal opacity
Combined malonic and methylmalonic acidemia
BAP1-related tumor predisposition syndrome
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Mitochondrial membrane protein-associated neurodegeneration
Hereditary arterial and articular multiple calcification syndrome
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Hypermethioninemia due to glycine N-methyltransferase deficiency
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Brachyolmia-amelogenesis imperfecta syndrome
Hereditary pheochromocytoma-paraganglioma
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Infantile-onset ascending hereditary spastic paralysis
Malignant migrating focal seizures of infancy
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Congenital hereditary endothelial dystrophy type II
Blepharophimosis-intellectual disability syndrome, MKB type
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Congenital dyserythropoietic anemia type IV
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal occipital encephalocele-skeletal dysplasia syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease
Triphalangeal thumb-polysyndactyly syndrome
Musculocontractural Ehlers-Danlos syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Autosomal recessive multiple pterygium syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Familial male-limited precocious puberty
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Severe congenital hypochromic anemia with ringed sideroblasts
Congenital cataract-hearing loss-severe developmental delay syndrome
Persistent polyclonal B-cell lymphocytosis
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Progeroid and marfanoid aspect-lipodystrophy syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Autosomal recessive infantile hypercalcemia
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Oligodontia-cancer predisposition syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Primary cutaneous anaplastic large cell lymphoma
ALK-positive anaplastic large cell lymphoma
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Blepharophimosis-intellectual disability syndrome, SBBYS type
Intellectual disability-sparse hair-brachydactyly syndrome
X-linked intellectual disability, Snyder type
Congenital sucrase-isomaltase deficiency with starch intolerance
Congenital sucrase-isomaltase deficiency with minimal starch tolerance
Congenital sucrase-isomaltase deficiency without starch intolerance
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
Congenital sucrase-isomaltase deficiency without sucrose intolerance
Junctional epidermolysis bullosa with respiratory and renal involvement
Autosomal recessive spastic paraplegia type 48
Congenital hereditary facial paralysis-variable hearing loss syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Sodium channelopathy-related small fiber neuropathy
X-linked complicated spastic paraplegia type 1
Familial normophosphatemic tumoral calcinosis
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Erythrocyte galactose epimerase deficiency
Generalized galactose epimerase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Autosomal dominant vitreoretinochoroidopathy
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B variant, juvenile form
Tay-Sachs disease, B variant, adult form
Primary hypomagnesemia with secondary hypocalcemia
Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, adult form
Free sialic acid storage disease, infantile form
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Autosomal dominant epidermolytic ichthyosis
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Infantile cerebellar-retinal degeneration
Developmental and speech delay due to SOX5 deficiency
Gastric adenocarcinoma and proximal polyposis of the stomach
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Hereditary sensory and autonomic neuropathy type 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Young adult-onset distal hereditary motor neuropathy
Craniofacial dysplasia-osteopenia syndrome
Autosomal recessive spastic ataxia with leukoencephalopathy
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Non-progressive cerebellar ataxia with intellectual disability
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Combined immunodeficiency due to STK4 deficiency
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Atypical dentin dysplasia due to SMOC2 deficiency
Short stature due to partial GHR deficiency
X-linked non progressive cerebellar ataxia
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Progressive symmetric erythrokeratodermia
Infantile convulsions and choreoathetosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to STIM1 deficiency
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked spasticity-intellectual disability-epilepsy syndrome
Congenital myopathy with internal nuclei and atypical cores
Diencephalic-mesencephalic junction dysplasia
Autosomal recessive spastic paraplegia type 53
MiT family translocation renal cell carcinoma
Autosomal recessive myogenic arthrogryposis multiplex congenita
Carney complex-trismus-pseudocamptodactyly syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Acute myeloid leukemia with CEBPA somatic mutations
Familial papillary or follicular thyroid carcinoma
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Dauber type
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
NON RARE IN EUROPE: Lactase non-persistence in adulthood
NON RARE IN EUROPE: Partial color blindness, protan type
NON RARE IN EUROPE: Partial color blindness, deutan type
Autosomal dominant spastic paraplegia type 41
MT-ATP6-related mitochondrial spastic paraplegia
Autosomal dominant spastic paraplegia type 36
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 54
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 44
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 56
Isolated succinate-CoQ reductase deficiency
Deafness-enamel hypoplasia-nail defects syndrome
NON RARE IN EUROPE: FG syndrome phenotypic spectrum
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
Multiple paragangliomas associated with polycythemia
Sinoatrial node dysfunction and deafness
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Combined oxidative phosphorylation defect type 11
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Proteasome-associated autoinflammatory syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Leydig cell hypoplasia due to LHB deficiency
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Catecholaminergic polymorphic ventricular tachycardia
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Developmental delay with autism spectrum disorder and gait instability
Autosomal dominant neovascular inflammatory vitreoretinopathy
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Microcephalic primordial dwarfism due to ZNF335 deficiency
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Congenital chronic diarrhea with protein-losing enteropathy
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Beta-propeller protein-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Thrombocythemia with distal limb defects
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant focal dystonia, DYT25 type
Acute megakaryoblastic leukemia without Down syndrome
Spastic paraplegia-Paget disease of bone syndrome
Adult-onset distal myopathy due to VCP mutation
Tumor necrosis factor receptor 1 associated periodic syndrome
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Generalized juvenile polyposis/juvenile polyposis coli
Hemoglobin Lepore-beta-thalassemia syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Tetraamelia-multiple malformations syndrome
Metaphyseal chondrodysplasia, Jansen type
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Susceptibility to infection due to TYK2 deficiency
Congenital amegakaryocytic thrombocytopenia
NON RARE IN EUROPE: Non-alcoholic fatty liver disease
Hypoplastic tibiae-postaxial polydactyly syndrome
Gamma-glutamyl transpeptidase deficiency
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hyperimmunoglobulinemia D with periodic fever
Telethonin-related limb-girdle muscular dystrophy R7
FKRP-related limb-girdle muscular dystrophy R9
DNAJB6-related limb-girdle muscular dystrophy D1
Congenital muscular dystrophy with integrin alpha-7 deficiency
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Autosomal dominant primary hypomagnesemia with hypocalciuria
Intellectual disability-developmental delay-contractures syndrome
Glycogen storage disease due to LAMP-2 deficiency
Immunodeficiency by defective expression of MHC class I
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
X-linked dominant chondrodysplasia punctata
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
DNA2-related mitochondrial DNA deletion syndrome
ISPD-related limb-girdle muscular dystrophy R20
Autism spectrum disorder due to AUTS2 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Progressive myoclonic epilepsy with dystonia
Autosomal recessive cerebellar ataxia with late-onset spasticity
Brain dopamine-serotonin vesicular transport disease
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or ocular involvement
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Progressive retinal dystrophy due to retinol transport defect
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Ocular albinism with congenital sensorineural deafness
Epileptic encephalopathy with global cerebral demyelination
Familial primary localized cutaneous amyloidosis
NON RARE IN EUROPE: Primary adult open-angle glaucoma
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, benign type
Congenital myasthenic syndromes with glycosylation defect
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
ANK3-related intellectual disability-sleep disturbance syndrome
Hemolytic uremic syndrome with DGKE deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
L-Arginine:glycine amidinotransferase deficiency
Autosomal recessive cutis laxa type 2, classic type
Aromatic L-amino acid decarboxylase deficiency
Severe combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to IL21R deficiency
Combined deficiency of factor V and factor VIII
NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency
High myopia-sensorineural deafness syndrome
Severe neurodegenerative syndrome with lipodystrophy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Multiple mitochondrial dysfunctions syndrome type 3
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Non-seminomatous germ cell tumor of testis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability-strabismus syndrome
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Acute encephalopathy with biphasic seizures and late reduced diffusion
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
LMNA-related cardiocutaneous progeria syndrome
GMPPB-related limb-girdle muscular dystrophy R19
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
X-linked parkinsonism-spasticity syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
COL4A1-related familial vascular leukoencephalopathy
Hereditary sensory and autonomic neuropathy type 1
Generalized epilepsy with febrile seizures-plus
Koolen-De Vries syndrome due to a point mutation
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
X-linked intellectual disability due to GRIA3 mutations
Severe early-childhood-onset retinal dystrophy
Infantile epileptic-dyskinetic encephalopathy
Hypocomplementemic urticarial vasculitis
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
TRAPPC11-related limb-girdle muscular dystrophy R18
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
2p21 microdeletion syndrome without cystinuria
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Combined oxidative phosphorylation defect type 17
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar keratoderma with painful fissures
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Focal palmoplantar keratoderma with joint keratoses
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute infantile liver failure-multisystemic involvement syndrome
Peripheral primitive neuroectodermal tumor
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Hypotonia-speech impairment-severe cognitive delay syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum
Glycogen storage disease due to muscle phosphofructokinase deficiency
Guanidinoacetate methyltransferase deficiency
NON RARE IN EUROPE: Hidradenitis suppurativa
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Fatal post-viral neurodegenerative disorder
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement
Hereditary sensory and autonomic neuropathy type 7
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Homozygous familial hypercholesterolemia
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
46,XX testicular disorder of sex development
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, mild type
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Macrocephaly-developmental delay syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
COASY protein-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Severe combined immunodeficiency due to IKK2 deficiency
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to MALT1 deficiency
MAGEL2-related Prader-Willi-like syndrome
Hereditary cryohydrocytosis with normal stomatin
Alpha-B crystallin-related late-onset myopathy
KLHL9-related early-onset distal myopathy
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
Pancytopenia-developmental delay syndrome
Proximal myopathy with extrapyramidal signs
Optic atrophy-intellectual disability syndrome
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Childhood-onset spasticity with hyperglycinemia
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Huntington disease-like syndrome due to C9ORF72 expansions
AXIN2-related attenuated familial adenomatous polyposis
Moyamoya disease with early-onset achalasia
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Acute myeloid leukemia with t(6;9)(p23;q34)
Acute myeloid leukemia with t(9;11)(p22;q23)
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Acute myeloid leukemia with NPM1 somatic mutations
Autosomal recessive distal renal tubular acidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Tall stature-intellectual disability-facial dysmorphism syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome
Female infertility due to zona pellucida defect
Severe intellectual disability-progressive spastic diplegia syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Clear cell papillary renal cell carcinoma
Spinal muscular atrophy with respiratory distress type 2
Familial atypical multiple mole melanoma syndrome
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Severe phosphoribosylpyrophosphate synthetase superactivity
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
PRKAR1B-related neurodegenerative dementia with intermediate filaments
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
NON RARE IN EUROPE: Hyperlipoproteinemia type 4
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Neonatal severe primary hyperparathyroidism
Glycogen storage disease due to acid maltase deficiency, late-onset
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Adult-onset cervical dystonia, DYT23 type
Bleeding disorder due to CalDAG-GEFI deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Hereditary clear cell renal cell carcinoma
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Congenital myopathy with myasthenic-like onset
TOR1AIP1-related limb-girdle muscular dystrophy
Familial hyperthyroidism due to mutations in TSH receptor
STING-associated vasculopathy with onset in infancy
NON RARE IN EUROPE: Familial hypobetalipoproteinemia
Medium chain acyl-CoA dehydrogenase deficiency
Combined immunodeficiency due to OX40 deficiency
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
X-linked scapuloperoneal muscular dystrophy
Autosomal recessive spastic paraplegia type 57
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Normosmic congenital hypogonadotropic hypogonadism
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
CIDEC-related familial partial lipodystrophy
LIPE-related familial partial lipodystrophy
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Chronic atrial and intestinal dysrhythmia syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Thrombomodulin-related bleeding disorder
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Microcephalic primordial dwarfism-insulin resistance syndrome
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Combined immunodeficiency-enteropathy spectrum
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
MYH7-related late-onset scapuloperoneal muscular dystrophy
Ketoacidosis due to monocarboxylate transporter-1 deficiency
RARS-related autosomal recessive hypomyelinating leukodystrophy
PCNA-related progressive neurodegenerative photosensitivity syndrome
STAT3-related early-onset multisystem autoimmune disease
Severe autosomal recessive macrothrombocytopenia
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease due to ABCA3 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Early-onset posterior subcapsular cataract
Undetermined early-onset epileptic encephalopathy
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
Postural orthostatic tachycardia syndrome due to NET deficiency
DNAJB2-related Charcot-Marie-Tooth disease type 2
Mandibulofacial dysostosis with alopecia
Combined oxidative phosphorylation defect type 23
46,XX ovarian dysgenesis-short stature syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Autoimmune interstitial lung disease-arthritis syndrome
Autosomal dominant spastic paraplegia type 73
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Combined oxidative phosphorylation defect type 24
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Combined immunodeficiency due to LRBA deficiency
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Susceptibility to localized juvenile periodontitis
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal recessive spastic paraplegia type 9B
Mitochondrial pyruvate carrier deficiency
Polymerase proofreading-related adenomatous polyposis
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Tremor-ataxia-central hypomyelination syndrome
Combined oxidative phosphorylation defect type 25
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Progressive scapulohumeroperoneal distal myopathy
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Progressive autosomal recessive ataxia-deafness syndrome
Isolated focal non-epidermolytic palmoplantar keratoderma
Regressive spondylometaphyseal dysplasia
NON RARE IN EUROPE: Primary bile acid malabsorption
Symptomatic form of fragile X syndrome in female carrier
Familial congenital nasolacrimal duct obstruction
X-linked lissencephaly with abnormal genitalia
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Congenital insensitivity to pain with severe intellectual disability
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Congenital fibrosis of extraocular muscles
NTHL1-related attenuated familial adenomatous polyposis
Infantile multisystem neurologic-endocrine-pancreatic disease
Hereditary sensory neuropathy-deafness-dementia syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
Hereditary neuroendocrine tumor of small intestine
Autosomal dominant mitochondrial myopathy with exercise intolerance
Predisposition to invasive fungal disease due to CARD9 deficiency
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Multiple mitochondrial dysfunctions syndrome type 4
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
NON RARE IN EUROPE: Specific language impairment
Spondyloepiphyseal dysplasia, Stanescu type
Autosomal recessive spastic paraplegia type 75
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Adenosine monophosphate deaminase deficiency
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
NON RARE IN EUROPE: Infantile capillary hemangioma
Intellectual disability syndrome due to a DYRK1A point mutation
Fever-associated acute infantile liver failure syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Familial gastric type 1 neuroendocrine tumor
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Symptomatic form of hemochromatosis type 1
Congenital plasminogen activator inhibitor type 1 deficiency
Class I glucose-6-phosphate dehydrogenase deficiency
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Martinique crinkled retinal pigment epitheliopathy
Autosomal recessive spastic paraplegia type 77
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
LIMS2-related limb-girdle muscular dystrophy
Autosomal dominant thrombocytopenia with platelet secretion defect
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Seizures-scoliosis-macrocephaly syndrome
VPS11-related autosomal recessive hypomyelinating leukodystrophy
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Microcephalic primordial dwarfism due to RTTN deficiency
Cryptogenic multifocal ulcerous stenosing enteritis
Chronic enteropathy associated with SLCO2A1 gene
Autosomal recessive spastic paraplegia type 74
Isolated generalized anhidrosis with normal sweat glands
Colobomatous macrophthalmia-microcornea syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Rhizomelic chondrodysplasia punctata type 5
Hereditary papillary renal cell carcinoma
BVES-related limb-girdle muscular dystrophy
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Erythrokeratodermia-cardiomyopathy syndrome
Hereditary pediatric Behçet-like disease
Combined immunodeficiency due to TFRC deficiency
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
PMP2-related Charcot-Marie-Tooth disease type 1
Congenital generalized hypercontractile muscle stiffness syndrome
IL21-related infantile inflammatory bowel disease
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Combined oxidative phosphorylation defect type 26
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Combined oxidative phosphorylation defect type 27
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Hereditary sensory and autonomic neuropathy type 8
Progressive familial intrahepatic cholestasis type 5
Progressive familial intrahepatic cholestasis type 4
MYO5B-related progressive familial intrahepatic cholestasis
Lethal hydranencephaly-diaphragmatic hernia syndrome
MSH3-related attenuated familial adenomatous polyposis
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Isolated neonatal sclerosing cholangitis
POGLUT1-related limb-girdle muscular dystrophy R21
Hereditary thrombocytopenia with early-onset myelofibrosis
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
HTRA1-related autosomal dominant cerebral small vessel disease
Adenylosuccinate synthetase-like 1-related distal myopathy
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Congenital high-molecular-weight kininogen deficiency
Congenital cataracts-facial dysmorphism-neuropathy syndrome
CLCN4-related X-linked intellectual disability syndrome
EMILIN-1-related connective tissue disease
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Autosomal dominant severe congenital neutropenia
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Female infertility due to oocyte meiotic arrest
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal recessive spastic paraplegia type 76
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
TBCK-related intellectual disability syndrome
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
DDX41-related hematologic malignancy predisposition syndrome
Congenital bilateral absence of vas deferens
RERE-related neurodevelopmental syndrome
Early-onset familial noncirrhotic portal hypertension
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Infantile-onset generalized dyskinesia with orofacial involvement
Childhood-onset benign chorea with striatal involvement
Squamous cell carcinoma of the hypopharynx
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Ocular anomalies-axonal neuropathy-developmental delay syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Childhood-onset basal ganglia degeneration syndrome
Menstrual cycle-dependent periodic fever
Thiamine-responsive megaloblastic anemia syndrome
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
SIN3A-related intellectual disability syndrome due to a point mutation
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oropharynx
Squamous cell carcinoma of salivary glands
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Noonan syndrome with multiple lentigines
Squamous cell carcinoma of the oral cavity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Severe combined immunodeficiency due to LAT deficiency
Combined immunodeficiency due to Moesin deficiency
Combined immunodeficiency due to GINS1 deficiency
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Graham Little-Piccardi-Lassueur syndrome
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangy
Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Hyperphenylalaninemia due to DNAJC12 deficiency
Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Chronic lymphoproliferative disorder of natural killer cells
Autosomal recessive epidermolytic ichthyosis
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive spastic paraplegia type 78
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Generalized arterial calcification of infancy
Autosomal recessive anterior segment dysgenesis
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Proximal myopathy with focal depletion of mitochondria
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
PLAA-associated neurodevelopmental disorder
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital vertebral-cardiac-renal anomalies syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Hereditary leiomyomatosis and renal cell cancer
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
X-linked creatine transporter deficiency
Severe myopia-generalized joint laxity-short stature syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Non-specific syndromic intellectual disability
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Berardinelli-Seip congenital lipodystrophy
Isolated follicle stimulating hormone deficiency
Duane retraction syndrome with congenital deafness
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
NON RARE IN EUROPE: Exfoliation syndrome
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Male infertility due to acephalic spermatozoa
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
KRT1-related diffuse nonepidermolytic keratoderma
Familial lipase maturation factor 1 deficiency
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 2
Arthrogryposis-anterior horn cell disease syndrome
PLG-related hereditary angioedema with normal C1Inh
ANGPT1-related hereditary angioedema with normal C1Inh
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to ITK deficiency
Familial hemophagocytic lymphohistiocytosis
Growth delay-intellectual disability-hepatopathy syndrome
Severe combined immunodeficiency due to CARMIL2 deficiency
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Leukoencephalopathy with calcifications and cysts
Auditory neuropathy-optic atrophy syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
SYNGAP1-related developmental and epileptic encephalopathy
Atypical hemolytic uremic syndrome with complement gene abnormality
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
RNF13-related severe early-onset epileptic encephalopathy
Congenital myopathy with reduced type 2 muscle fibers
FLNA-related X-linked myxomatous valvular dysplasia
TNP03-related limb-girdle muscular dystrophy D2
HNRNPDL-related limb-girdle muscular dystrophy D3
Pancreatic agenesis-holoprosencephaly syndrome
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Spastic ataxia-dysarthria due to glutaminase deficiency
Neonatal epileptic encephalopathy due to glutaminase deficiency
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Autosomal recessive extra-oral halitosis
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Triglyceride deposit cardiomyovasculopathy
Combined oxidative phosphorylation defect type 39
Infantile inflammatory bowel disease with neurological involvement
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Congenital autosomal recessive small-platelet thrombocytopenia
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
Familial or sporadic hemiplegic migraine
QRSL1-related combined oxidative phosphorylation defect
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
Microcephaly-short stature-limb abnormalities syndrome
WARS2-related combined oxidative phosphorylation defect
Immunodeficiency by defective expression of MHC class II
Predisposition to severe viral infection due to IRF7 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
SATB2-associated syndrome due to a pathogenic variant
NLRC4-related familial cold autoinflammatory syndrome
Glycogen storage disease due to aldolase A deficiency
Lethal brain and heart developmental defects
QRICH1-related intellectual disability-chondrodysplasia syndrome
Sorsby pseudoinflammatory fundus dystrophy
Neonatal ichthyosis-sclerosing cholangitis syndrome
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Megalencephaly-capillary malformation-polymicrogyria syndrome
Vocal cord and pharyngeal distal myopathy
NON RARE IN EUROPE: Primary ovarian failure
Short stature due to growth hormone qualitative anomaly
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Distal myopathy with posterior leg and anterior hand involvement
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Angel-shaped phalango-epiphyseal dysplasia
Hereditary neuropathy with liability to pressure palsies
Hereditary sensory and autonomic neuropathy type 4
NON RARE IN EUROPE: Non rare thrombophilia
NON RARE IN EUROPE: Recurrent acute pancreatitis
Hereditary motor and sensory neuropathy type 5
Hereditary sensory and autonomic neuropathy type 5
Spinocerebellar ataxia with axonal neuropathy type 2
NON RARE IN EUROPE: Idiopathic infantile nystagmus
Biotin-thiamine-responsive basal ganglia disease
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Genetic steroid-resistant nephrotic syndrome
Autosomal dominant multiple pterygium syndrome
Multiple self-healing squamous epithelioma
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mitochondrial DNA-related progressive external ophthalmoplegia
Obesity due to congenital leptin deficiency
Autosomal recessive malignant osteopetrosis
Autosomal dominant optic atrophy and cataract
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked intellectual disability with isolated growth hormone deficiency
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Naegeli-Franceschetti-Jadassohn syndrome
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
NON RARE IN EUROPE: Immunoglobulin A deficiency
Low phospholipid-associated cholelithiasis
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Athabaskan brainstem dysgenesis syndrome
3-methylcrotonyl-CoA carboxylase deficiency
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Infant acute respiratory distress syndrome
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
NON RARE IN EUROPE: Patent arterial duct
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Classic glucose transporter type 1 deficiency syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Familial platelet disorder with associated myeloid malignancy
Hemolytic anemia due to glucophosphate isomerase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Benign paroxysmal torticollis of infancy
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to melanocortin 4 receptor deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Continuous spikes and waves during sleep
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay due to insulin-like growth factor I resistance
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hereditary thrombophilia due to congenital protein C deficiency
Mitochondrial trifunctional protein deficiency
NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency
Familial isolated restrictive cardiomyopathy
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Acquired idiopathic sideroblastic anemia
Congenital muscular dystrophy, Ullrich type
Purine nucleoside phosphorylase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Trichorhinophalangeal syndrome type 1 and 3
Anophthalmia/microphthalmia-esophageal atresia syndrome
X-linked intellectual disability with marfanoid habitus
X-linked non-syndromic intellectual disability
Generalized glucocorticoid resistance syndrome
PPARG-related familial partial lipodystrophy
Familial partial lipodystrophy, Köbberling type
AKT2-related familial partial lipodystrophy
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Congenital bile acid synthesis defect type 4
Developmental malformations-deafness-dystonia syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome
Disseminated superficial actinic porokeratosis
2-methylbutyryl-CoA dehydrogenase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria type cblF
Hyperinsulinism due to glucokinase deficiency
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Brachytelephalangic chondrodysplasia punctata
3-phosphoserine phosphatase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Congenital non-bullous ichthyosiform erythroderma
Keratoderma hereditarium mutilans with ichthyosis
Epidermolysis bullosa simplex, generalized severe
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, generalized intermediate
Epidermolysis bullosa simplex, Ogna type
Junctional epidermolysis bullosa, generalized intermediate
Junctional epidermolysis bullosa-pyloric atresia syndrome
Junctional epidermolysis bullosa, generalized severe
Junctional epidermolysis bullosa inversa
Late-onset junctional epidermolysis bullosa
Severe generalized recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Pretibial dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
X-linked congenital generalized hypertrichosis
Autosomal dominant deafness-onychodystrophy syndrome
Punctate palmoplantar keratoderma type 1
Cholesterol-ester transfer protein deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Congenital alpha2-antiplasmin deficiency
NON RARE IN EUROPE: Ankylosing spondylitis
Hereditary thrombophilia due to congenital antithrombin deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Microcytic anemia with liver iron overload
Congenital nephrotic syndrome, Finnish type
Desmin-related myopathy with Mallory body-like inclusions
Alpha-thalassemia-X-linked intellectual disability syndrome
Familial encephalopathy with neuroserpin inclusion bodies
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Cystic leukoencephalopathy without megalencephaly
NON RARE IN EUROPE: Aldosterone-producing adenoma
Neurogenic scapuloperoneal syndrome, Kaeser type
Hypomyelination-congenital cataract syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Familial digital arthropathy-brachydactyly
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Infantile osteopetrosis with neuroaxonal dysplasia
Diaphyseal medullary stenosis-bone malignancy syndrome
Endosteal sclerosis-cerebellar hypoplasia syndrome
X-linked intellectual disability, Cantagrel type
Syndromic X-linked intellectual disability due to JARID1C mutation
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability, Cabezas type
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked thrombocytopenia with normal platelets
X-linked intellectual disability, Turner type
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Fetal and neonatal alloimmune thrombocytopenia
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Oligoarticular juvenile idiopathic arthritis
Systemic-onset juvenile idiopathic arthritis
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Congenitally uncorrected transposition of the great arteries
NON RARE IN EUROPE: Hereditary essential tremor
POMT1-related limb-girdle muscular dystrophy R11
Helicoid peripapillary chorioretinal degeneration
Benign adult familial myoclonic epilepsy
Hemolytic anemia due to adenylate kinase deficiency
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Familial avascular necrosis of femoral head
Chronic myeloproliferative disease, unclassifiable
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Acute myeloid leukaemia with myelodysplasia-related features
T-cell large granular lymphocyte leukemia
Subcutaneous panniculitis-like T-cell lymphoma
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Familial progressive cardiac conduction defect
Autosomal recessive non-syndromic intellectual disability
Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency
Familial acute necrotizing encephalopathy
Posterior column ataxia-retinitis pigmentosa syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Channelopathy-associated congenital insensitivity to pain
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MUC1-related autosomal dominant tubulointerstitial kidney disease
UMOD-related autosomal dominant tubulointerstitial kidney disease
Epidermolysis bullosa simplex, autosomal recessive K14
Epidermolysis bullosa simplex superficialis
Centripetalis recessive dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa, generalized intermediate
Dystrophic epidermolysis bullosa pruriginosa
Lissencephaly syndrome, Norman-Roberts type
Autosomal dominant hypophosphatemic rickets
Infantile Bartter syndrome with sensorineural deafness
X-linked cone dysfunction syndrome with myopia
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Deafness with labyrinthine aplasia, microtia, and microdontia
Hemolytic anemia due to glutathione reductase deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Hereditary motor and sensory neuropathy, Okinawa type
Severe early-onset axonal neuropathy due to MFN2 deficiency
Hereditary motor and sensory neuropathy type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Telangiectasia macularis eruptiva perstans
X-linked non-syndromic sensorineural deafness type DFN
Autosomal dominant non-syndromic sensorineural deafness type DFNA
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Mitochondrial non-syndromic sensorineural deafness
Hypothyroidism due to TSH receptor mutations
Isolated thyroid-stimulating hormone deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Combined immunodeficiency due to ZAP70 deficiency
Familial thoracic aortic aneurysm and aortic dissection
Persistent hyperplastic primary vitreous
Hyperammonemia due to N-acetylglutamate synthase deficiency
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Hypocalcemic vitamin D-resistant rickets
Fragile X-associated tremor/ataxia syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia, Kimberley type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sedaghatian type
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
X-linked spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with multiple dislocations
Familial hypocalciuric hypercalcemia type 1
NON RARE IN EUROPE: Brachydactyly type D
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Congenital thrombotic thrombocytopenic purpura
OBSOLETE: Alpha-1-antichymotrypsin deficiency
Nephrogenic syndrome of inappropriate antidiuresis
Autosomal recessive proximal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Midline interhemispheric variant of holoprosencephaly
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, Hedera type
Spinocerebellar ataxia with axonal neuropathy type 1
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Combined pituitary hormone deficiencies, genetic forms
NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Cytomegalic congenital adrenal hypoplasia
Kleefstra syndrome due to 9q34 microdeletion
Temple syndrome due to maternal uniparental disomy of chromosome 14
Paternal uniparental disomy of chromosome 6
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Hypertrichosis-acromegaloid facial appearance syndrome
Acromesomelic dysplasia, Hunter-Thompson type
Hereditary sensory and autonomic neuropathy type 2
Glycogen storage disease due to phosphoglycerate mutase deficiency
Hereditary continuous muscle fiber activity
Unilateral multicystic dysplastic kidney
Renal tubular dysgenesis of genetic origin
NON RARE IN EUROPE: Benign familial hematuria
Adenine phosphoribosyltransferase deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant optic atrophy, classic form
Autosomal recessive isolated optic atrophy
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Autosomal dominant nocturnal frontal lobe epilepsy
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Autosomal dominant dopa-responsive dystonia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial focal epilepsy with variable foci
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with minimal differentiation
Acute myeloblastic leukemia without maturation
Acute myeloblastic leukemia with maturation
Primary mediastinal large B-cell lymphoma
Classic Hodgkin lymphoma, nodular sclerosis type
Systemic mastocytosis with associated hematologic neoplasm
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive Emery-Dreifuss muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type II
Bleeding diathesis due to glycoprotein VI deficiency
Congenital myopathy with excess of thin filaments
Congenital multicore myopathy with external ophthalmoplegia
Neutral lipid storage disease with ichthyosis
Late-onset distal myopathy, Markesbery-Griggs type
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
Acute inflammatory demyelinating polyradiculoneuropathy
Spinal muscular atrophy with respiratory distress type 1
Multiple system atrophy, parkinsonian type
Posterior polymorphous corneal dystrophy
Congenital hereditary endothelial dystrophy type I
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Adult-onset foveomacular vitelliform dystrophy
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
X-linked Charcot-Marie-Tooth disease type 5
Adult-onset autosomal dominant leukodystrophy
Congenitally uncorrected transposition of the great arteries with coarctation
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Agnathia-holoprosencephaly-situs inversus syndrome
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Atrial septal defect, ostium primum type
Lymphedema-posterior choanal atresia syndrome
Complete androgen insensitivity syndrome
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Resistance to thyrotropin-releasing hormone syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Acute megakaryoblastic leukemia in Down syndrome
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Long chain acyl-CoA dehydrogenase deficiency
Maligant granulosa cell tumor of the ovary
Malignant Sertoli-Leydig cell tumor of the ovary
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Squamous cell carcinoma of the esophagus