HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia
HP:0000081	Duplicated collecting system
HP:0000085	Horseshoe kidney
HP:0000089	Renal hypoplasia
HP:0000103	Polyuria
HP:0000107	Renal cyst
HP:0000124	Renal tubular dysfunction
HP:0000126	Hydronephrosis
HP:0000138	Ovarian cyst
HP:0000154	Wide mouth
HP:0000160	Narrow mouth
HP:0000180	Lobulated tongue
HP:0000183	Difficulty in tongue movements
HP:0000194	Open mouth
HP:0000212	Gingival overgrowth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000224	Decreased taste sensation
HP:0000232	Everted lower lip vermilion
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000255	Acute sinusitis
HP:0000256	Macrocephaly
HP:0000272	Malar flattening
HP:0000277	Abnormality of the mandible
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000298	Mask-like facies
HP:0000307	Pointed chin
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000324	Facial asymmetry
HP:0000337	Broad forehead
HP:0000347	Micrognathia
HP:0000349	Widow's peak
HP:0000365	Hearing impairment
HP:0000368	Low-set, posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000377	Abnormality of the pinna
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000447	Pear-shaped nose
HP:0000455	Broad nasal tip
HP:0000470	Short neck
HP:0000473	Torticollis
HP:0000474	Thickened nuchal skin fold
HP:0000479	Abnormality of the retina
HP:0000481	Abnormality of the cornea
HP:0000484	Hyperopic astigmatism
HP:0000486	Strabismus
HP:0000498	Blepharitis
HP:0000505	Visual impairment
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000514	Slow saccadic eye movements
HP:0000518	Cataract
HP:0000527	Long eyelashes
HP:0000534	Abnormality of the eyebrow
HP:0000535	Sparse and thin eyebrow
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000565	Esotropia
HP:0000577	Exotropia
HP:0000582	Upslanted palpebral fissure
HP:0000601	Hypotelorism
HP:0000609	Optic nerve hypoplasia
HP:0000613	Photophobia
HP:0000622	Blurred vision
HP:0000639	Nystagmus
HP:0000646	Amblyopia
HP:0000648	Optic atrophy
HP:0000651	Diplopia
HP:0000664	Synophrys
HP:0000666	Horizontal nystagmus
HP:0000670	Carious teeth
HP:0000682	Abnormality of dental enamel
HP:0000687	Widely spaced teeth
HP:0000689	Dental malocclusion
HP:0000691	Microdontia
HP:0000708	Behavioral abnormality
HP:0000716	Depression
HP:0000717	Autism
HP:0000722	Obsessive-compulsive behavior
HP:0000729	Autistic behavior
HP:0000733	Stereotypy
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000745	Diminished motivation
HP:0000750	Delayed speech and language development
HP:0000759	Abnormal peripheral nervous system morphology
HP:0000762	Decreased nerve conduction velocity
HP:0000768	Pectus carinatum
HP:0000795	Abnormality of the urethra
HP:0000802	Impotence
HP:0000817	Poor eye contact
HP:0000821	Hypothyroidism
HP:0000822	Hypertension
HP:0000823	Delayed puberty
HP:0000833	Glucose intolerance
HP:0000836	Hyperthyroidism
HP:0000846	Adrenal insufficiency
HP:0000873	Diabetes insipidus
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000952	Jaundice
HP:0000958	Dry skin
HP:0000960	Sacral dimple
HP:0000961	Cyanosis
HP:0000964	Eczema
HP:0000965	Cutis marmorata
HP:0000967	Petechiae
HP:0000975	Hyperhidrosis
HP:0000977	Soft skin
HP:0000980	Pallor
HP:0000988	Skin rash
HP:0000998	Hypertrichosis
HP:0001004	Lymphedema
HP:0001007	Hirsutism
HP:0001027	Soft, doughy skin
HP:0001028	Hemangioma
HP:0001034	Hypermelanotic macule
HP:0001047	Atopic dermatitis
HP:0001054	Numerous nevi
HP:0001061	Acne
HP:0001093	Optic nerve dysplasia
HP:0001134	Anterior polar cataract
HP:0001166	Arachnodactyly
HP:0001182	Tapered finger
HP:0001187	Hyperextensibility of the finger joints
HP:0001220	Interphalangeal joint contracture of finger
HP:0001227	Abnormality of the thenar eminence
HP:0001239	Wrist flexion contracture
HP:0001249	Intellectual disability
HP:0001250	Seizures
HP:0001251	Ataxia
HP:0001252	Muscular hypotonia
HP:0001256	Intellectual disability, mild
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001266	Choreoathetosis
HP:0001269	Hemiparesis
HP:0001271	Polyneuropathy
HP:0001272	Cerebellar atrophy
HP:0001273	Abnormality of the corpus callosum
HP:0001284	Areflexia
HP:0001287	Meningitis
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001308	Tongue fasciculations
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001328	Specific learning disability
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001348	Brisk reflexes
HP:0001357	Plagiocephaly
HP:0001363	Craniosynostosis
HP:0001371	Flexion contracture
HP:0001376	Limitation of joint mobility
HP:0001382	Joint hypermobility
HP:0001385	Hip dysplasia
HP:0001388	Joint laxity
HP:0001397	Hepatic steatosis
HP:0001433	Hepatosplenomegaly
HP:0001488	Bilateral ptosis
HP:0001489	Posterior vitreous detachment
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001513	Obesity
HP:0001518	Small for gestational age
HP:0001528	Hemihypertrophy
HP:0001530	Mild postnatal growth retardation
HP:0001531	Failure to thrive in infancy
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001562	Oligohydramnios
HP:0001583	Rotary nystagmus
HP:0001595	Abnormality of the hair
HP:0001598	Concave nail
HP:0001601	Laryngomalacia
HP:0001605	Vocal cord paralysis
HP:0001609	Hoarse voice
HP:0001611	Nasal speech
HP:0001618	Dysphonia
HP:0001622	Premature birth
HP:0001623	Breech presentation
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001633	Abnormality of the mitral valve
HP:0001634	Mitral valve prolapse
HP:0001638	Cardiomyopathy
HP:0001643	Patent ductus arteriosus
HP:0001644	Dilated cardiomyopathy
HP:0001646	Abnormality of the aortic valve
HP:0001649	Tachycardia
HP:0001650	Aortic valve stenosis
HP:0001653	Mitral regurgitation
HP:0001657	Prolonged QT interval
HP:0001659	Aortic regurgitation
HP:0001662	Bradycardia
HP:0001702	Abnormality of the tricuspid valve
HP:0001711	Abnormal morphology of the left ventricle
HP:0001712	Left ventricular hypertrophy
HP:0001716	Wolff-Parkinson-White syndrome
HP:0001743	Abnormality of the spleen
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0001770	Toe syndactyly
HP:0001773	Short foot
HP:0001787	Abnormal delivery
HP:0001822	Hallux valgus
HP:0001824	Weight loss
HP:0001831	Short toe
HP:0001840	Metatarsus adductus
HP:0001848	Calcaneovalgus deformity
HP:0001873	Thrombocytopenia
HP:0001875	Neutropenia
HP:0001880	Eosinophilia
HP:0001891	Iron deficiency anemia
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0001946	Ketosis
HP:0001947	Renal tubular acidosis
HP:0001954	Episodic fever
HP:0001955	Unexplained fevers
HP:0001956	Truncal obesity
HP:0001959	Polydipsia
HP:0001965	Abnormality of the scalp
HP:0001998	Neonatal hypoglycemia
HP:0001999	Abnormal facial shape
HP:0002007	Frontal bossing
HP:0002011	Morphological abnormality of the central nervous system
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002045	Hypothermia
HP:0002046	Heat intolerance
HP:0002058	Myopathic facies
HP:0002059	Cerebral atrophy
HP:0002061	Lower limb spasticity
HP:0002064	Spastic gait
HP:0002066	Gait ataxia
HP:0002072	Chorea
HP:0002076	Migraine
HP:0002079	Hypoplasia of the corpus callosum
HP:0002088	Abnormality of lung morphology
HP:0002090	Pneumonia
HP:0002092	Pulmonary arterial hypertension
HP:0002093	Respiratory insufficiency
HP:0002099	Asthma
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002121	Absence seizures
HP:0002123	Generalized myoclonic seizures
HP:0002126	Polymicrogyria
HP:0002127	Abnormal upper motor neuron morphology
HP:0002133	Status epilepticus
HP:0002136	Broad-based gait
HP:0002141	Gait imbalance
HP:0002144	Tethered cord
HP:0002162	Low posterior hairline
HP:0002172	Postural instability
HP:0002187	Intellectual disability, profound
HP:0002188	Delayed CNS myelination
HP:0002191	Progressive spasticity
HP:0002194	Delayed gross motor development
HP:0002196	Myelopathy
HP:0002197	Generalized seizures
HP:0002204	Pulmonary embolism
HP:0002205	Recurrent respiratory infections
HP:0002208	Coarse hair
HP:0002209	Sparse scalp hair
HP:0002230	Generalized hirsutism
HP:0002254	Intermittent diarrhea
HP:0002273	Tetraparesis
HP:0002282	Heterotopia
HP:0002283	Global brain atrophy
HP:0002300	Mutism
HP:0002304	Akinesia
HP:0002307	Drooling
HP:0002315	Headache
HP:0002321	Vertigo
HP:0002334	Abnormality of the cerebellar vermis
HP:0002342	Intellectual disability, moderate
HP:0002355	Difficulty walking
HP:0002359	Frequent falls
HP:0002360	Sleep disturbance
HP:0002362	Shuffling gait
HP:0002366	Abnormal lower motor neuron morphology
HP:0002376	Developmental regression
HP:0002380	Fasciculations
HP:0002381	Aphasia
HP:0002383	Encephalitis
HP:0002384	Focal seizures with impairment of consciousness or awareness
HP:0002389	Cavum septum pellucidum
HP:0002392	EEG with polyspike wave complexes
HP:0002395	Lower limb hyperreflexia
HP:0002396	Cogwheel rigidity
HP:0002398	Degeneration of anterior horn cells
HP:0002403	Positive Romberg sign
HP:0002415	Leukodystrophy
HP:0002421	Poor head control
HP:0002423	Long-tract signs
HP:0002450	Abnormal motor neuron morphology
HP:0002451	Limb dystonia
HP:0002459	Dysautonomia
HP:0002460	Distal muscle weakness
HP:0002495	Impaired vibratory sensation
HP:0002500	Abnormality of the cerebral white matter
HP:0002506	Diffuse cerebral atrophy
HP:0002509	Limb hypertonia
HP:0002514	Cerebral calcification
HP:0002521	Hypsarrhythmia
HP:0002522	Areflexia of lower limbs
HP:0002538	Abnormality of the cerebral cortex
HP:0002540	Inability to walk
HP:0002566	Intestinal malrotation
HP:0002572	Episodic vomiting
HP:0002579	Gastrointestinal dysmotility
HP:0002580	Volvulus
HP:0002599	Head titubation
HP:0002607	Bowel incontinence
HP:0002616	Aortic root dilatation
HP:0002617	Dilatation
HP:0002650	Scoliosis
HP:0002673	Coxa valga
HP:0002714	Downturned corners of mouth
HP:0002719	Recurrent infections
HP:0002738	Hypoplastic frontal sinuses
HP:0002757	Recurrent fractures
HP:0002761	Generalized joint laxity
HP:0002781	Upper airway obstruction
HP:0002783	Recurrent lower respiratory tract infections
HP:0002790	Neonatal breathing dysregulation
HP:0002808	Kyphosis
HP:0002829	Arthralgia
HP:0002835	Aspiration
HP:0002870	Obstructive sleep apnea
HP:0002888	Ependymoma
HP:0002901	Hypocalcemia
HP:0002902	Hyponatremia
HP:0002909	Generalized aminoaciduria
HP:0002917	Hypomagnesemia
HP:0002924	obsolete Decreased circulating aldosterone level
HP:0002936	Distal sensory impairment
HP:0002938	Lumbar hyperlordosis
HP:0002944	Thoracolumbar scoliosis
HP:0003026	Short long bone
HP:0003077	Hyperlipidemia
HP:0003081	Increased urinary potassium
HP:0003119	Abnormality of lipid metabolism
HP:0003134	Abnormality of peripheral nerve conduction
HP:0003186	Inverted nipples
HP:0003193	Allergic rhinitis
HP:0003198	Myopathy
HP:0003202	Skeletal muscle atrophy
HP:0003228	Hypernatremia
HP:0003236	Elevated serum creatine phosphokinase
HP:0003237	Increased IgG level
HP:0003323	Progressive muscle weakness
HP:0003325	Limb-girdle muscle weakness
HP:0003376	Steppage gait
HP:0003382	Hypertrophic nerve changes
HP:0003390	Sensory axonal neuropathy
HP:0003394	Muscle cramps
HP:0003401	Paresthesia
HP:0003423	Thoracolumbar kyphoscoliosis
HP:0003429	CNS hypomyelination
HP:0003445	EMG: neuropathic changes
HP:0003447	Axonal loss
HP:0003449	Cold-induced muscle cramps
HP:0003457	EMG abnormality
HP:0003458	EMG: myopathic abnormalities
HP:0003474	Sensory impairment
HP:0003484	Upper limb muscle weakness
HP:0003487	Babinski sign
HP:0003493	Antinuclear antibody positivity
HP:0003496	Increased IgM level
HP:0003517	Birth length greater than 97th percentile
HP:0003546	Exercise intolerance
HP:0003547	Shoulder girdle muscle weakness
HP:0003551	Difficulty climbing stairs
HP:0003552	Muscle stiffness
HP:0003561	Birth length less than 3rd percentile
HP:0003645	Prolonged partial thromboplastin time
HP:0003691	Scapular winging
HP:0003700	Generalized amyotrophy
HP:0003722	Neck flexor weakness
HP:0003737	Mitochondrial myopathy
HP:0003763	Bruxism
HP:0003764	Nevus
HP:0003799	Marked delay in bone age
HP:0004209	Clinodactyly of the 5th finger
HP:0004279	Short palm
HP:0004303	Abnormality of muscle fibers
HP:0004322	Short stature
HP:0004324	Increased body weight
HP:0004325	Decreased body weight
HP:0004379	Abnormality of alkaline phosphatase activity
HP:0004466	Prolonged brainstem auditory evoked potentials
HP:0004482	Relative macrocephaly
HP:0004488	Macrocephaly at birth
HP:0004660	Hypoplasia of facial musculature
HP:0004876	Spontaneous neonatal pneumothorax
HP:0004936	Venous thrombosis
HP:0005072	Hyperextensibility at wrists
HP:0005109	Abnormality of the Achilles tendon
HP:0005214	Intestinal obstruction
HP:0005263	Gastritis
HP:0005280	Depressed nasal bridge
HP:0005469	Flat occiput
HP:0005484	Postnatal microcephaly
HP:0005556	Abnormality of the metopic suture
HP:0005750	Contractures of the joints of the lower limbs
HP:0005946	Ventilator dependence with inability to wean
HP:0005968	Temperature instability
HP:0005988	Congenital muscular torticollis
HP:0006101	Finger syndactyly
HP:0006114	Multiple palmar creases
HP:0006311	Generalized microdontia
HP:0006313	Widely spaced primary teeth
HP:0006462	Generalized bone demineralization
HP:0006482	Abnormality of dental morphology
HP:0006530	Interstitial pulmonary abnormality
HP:0006532	Recurrent pneumonia
HP:0006543	Cardiorespiratory arrest
HP:0006568	Increased hepatic glycogen content
HP:0006801	Hyperactive deep tendon reflexes
HP:0006808	Cerebral hypomyelination
HP:0006829	Severe muscular hypotonia
HP:0006849	Hypodysplasia of the corpus callosum
HP:0006855	Cerebellar vermis atrophy
HP:0006858	Impaired distal proprioception
HP:0006863	Severe expressive language delay
HP:0006895	Lower limb hypertonia
HP:0006926	Metachromatic leukodystrophy variant
HP:0006938	Impaired vibration sensation at ankles
HP:0006956	Dilation of lateral ventricles
HP:0006958	Abnormal auditory evoked potentials
HP:0006960	Choroid plexus calcification
HP:0006964	Cerebral cortical neurodegeneration
HP:0006983	Slowly progressive spastic quadriparesis
HP:0006989	Dysplastic corpus callosum
HP:0006994	Diffuse leukoencephalopathy
HP:0007002	Motor axonal neuropathy
HP:0007018	Attention deficit hyperactivity disorder
HP:0007021	Pain insensitivity
HP:0007058	Generalized cerebral atrophy/hypoplasia
HP:0007069	Profound static encephalopathy
HP:0007074	Thick corpus callosum
HP:0007083	Hyperactive patellar reflex
HP:0007141	Sensorimotor neuropathy
HP:0007165	Periventricular gray matter heterotopia
HP:0007266	Cerebral dysmyelination
HP:0007267	Chronic axonal neuropathy
HP:0007340	Lower limb muscle weakness
HP:0007354	Amyotrophic lateral sclerosis
HP:0007359	Focal seizures
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0007361	Abnormality of the pons
HP:0007377	Abnormality of somatosensory evoked potentials
HP:0007485	Absence of subcutaneous fat
HP:0007502	Follicular hyperkeratosis
HP:0007503	Generalized ichthyosis
HP:0007514	Edema of the dorsum of hands
HP:0007572	Hyperpigmented streaks
HP:0007588	Reticular hyperpigmentation
HP:0007678	Lacrimal duct stenosis
HP:0007703	Abnormality of retinal pigmentation
HP:0007715	Weak extraocular muscles
HP:0007768	Central retinal vessel vascular tortuosity
HP:0007874	Almond-shaped palpebral fissure
HP:0007930	Prominent epicanthal folds
HP:0007979	Gaze-evoked horizontal nystagmus
HP:0008000	Decreased corneal reflex
HP:0008033	Congenital exotropia
HP:0008070	Sparse hair
HP:0008113	Multiple plantar creases
HP:0008249	Thyroid hyperplasia
HP:0008366	Contractures involving the joints of the feet
HP:0008383	Slow-growing nails
HP:0008523	Posterior helix pit
HP:0008529	Absence of acoustic reflex
HP:0008780	Congenital bilateral hip dislocation
HP:0008855	Moderate postnatal growth retardation
HP:0008872	Feeding difficulties in infancy
HP:0008936	Muscular hypotonia of the trunk
HP:0008944	Distal lower limb amyotrophy
HP:0009020	Exercise-induced muscle fatigue
HP:0009027	Foot dorsiflexor weakness
HP:0009046	Difficulty running
HP:0009050	Quadriceps muscle atrophy
HP:0009051	Increased muscle glycogen content
HP:0009113	Diaphragmatic weakness
HP:0009123	Mixed hypo- and hyperpigmentation of the skin
HP:0009129	Upper limb amyotrophy
HP:0009763	Limb pain
HP:0009800	Maternal diabetes
HP:0009811	Abnormality of the elbow
HP:0009816	Lower limb undergrowth
HP:0009824	Upper limb undergrowth
HP:0009830	Peripheral neuropathy
HP:0009889	Localized hirsutism
HP:0009890	High anterior hairline
HP:0009899	Prominent crus of helix
HP:0009937	Facial hirsutism
HP:0010034	Short 1st metacarpal
HP:0010044	Short 4th metacarpal
HP:0010047	Short 5th metacarpal
HP:0010055	Broad hallux
HP:0010192	Triangular shaped distal phalanges of the toes
HP:0010301	Spinal dysraphism
HP:0010471	Oligosacchariduria
HP:0010485	Hyperextensibility at elbow
HP:0010535	Sleep apnea
HP:0010536	Central sleep apnea
HP:0010539	Thin calvarium
HP:0010543	Opsoclonus
HP:0010627	Anterior pituitary hypoplasia
HP:0010677	Enuresis nocturna
HP:0010678	Enuresis diurna
HP:0010721	Abnormal hair whorl
HP:0010804	Tented upper lip vermilion
HP:0010833	Spontaneous pain sensation
HP:0010837	Decreased serum ceruloplasmin
HP:0010845	EEG with generalized slow activity
HP:0010862	Delayed fine motor development
HP:0010864	Intellectual disability, severe
HP:0010873	Cervical spinal cord atrophy
HP:0011082	Conical primary incisor
HP:0011096	Peripheral demyelination
HP:0011120	Concave nasal ridge
HP:0011124	Abnormality of epidermal morphology
HP:0011147	Typical absence seizures
HP:0011189	Bilateral multifocal epileptiform discharges
HP:0011197	EEG with focal spike waves
HP:0011198	EEG with generalized epileptiform discharges
HP:0011201	EEG with changes in voltage
HP:0011203	EEG with abnormally slow frequencies
HP:0011220	Prominent forehead
HP:0011330	Metopic synostosis
HP:0011344	Severe global developmental delay
HP:0011351	Moderate receptive language delay
HP:0011352	Severe receptive language delay
HP:0011357	Abnormality of hair density
HP:0011398	Central hypotonia
HP:0011410	Caesarian section
HP:0011428	Short fetal femur length
HP:0011437	Maternal autoimmune disease
HP:0011441	Abnormality of the medulla oblongata
HP:0011446	Abnormality of higher mental function
HP:0011448	Ankle clonus
HP:0011451	Congenital microcephaly
HP:0011452	Functional abnormality of the middle ear
HP:0011471	Gastrostomy tube feeding in infancy
HP:0011515	Abnormal stereopsis
HP:0011675	Arrhythmia
HP:0011703	Sinus tachycardia
HP:0011755	Ectopic posterior pituitary
HP:0011787	Central hypothyroidism
HP:0011800	Midface retrusion
HP:0011868	Sciatica
HP:0011924	Decreased activity of mitochondrial complex III
HP:0011951	Aspiration pneumonia
HP:0011952	Acute aspiration pneumonia
HP:0011968	Feeding difficulties
HP:0012079	Abnormality of central motor conduction
HP:0012098	Edema of the dorsum of feet
HP:0012110	Hypoplasia of the pons
HP:0012166	Skin-picking
HP:0012173	Orthostatic tachycardia
HP:0012188	Hyperemesis gravidarum
HP:0012229	CSF pleocytosis
HP:0012323	Sleep myoclonus
HP:0012333	Abnormal sudomotor regulation
HP:0012338	Abnormal energy expenditure
HP:0012343	Decreased serum ferritin
HP:0012358	Abnormal protein O-linked glycosylation
HP:0012371	Hyperplasia of midface
HP:0012378	Fatigue
HP:0012391	Hyporeflexia of upper limbs
HP:0012393	Allergy
HP:0012395	Seasonal allergy
HP:0012411	Premature pubarche
HP:0012412	Premature adrenarche
HP:0012416	Hypercapnia
HP:0012418	Hypoxemia
HP:0012420	Meconium stained amniotic fluid
HP:0012423	Colonic inertia
HP:0012432	Chronic fatigue
HP:0012434	Delayed social development
HP:0012446	Low CSF 5-methyltetrahydrofolate
HP:0012450	Chronic constipation
HP:0012452	Restless legs
HP:0012469	Infantile spasms
HP:0012473	Tongue atrophy
HP:0012520	Perivascular spaces
HP:0012531	Pain
HP:0012532	Chronic pain
HP:0012535	Abnormal synaptic transmission
HP:0012537	Food intolerance
HP:0012547	Abnormal involuntary eye movements
HP:0012608	Hypermagnesiuria
HP:0012650	Perisylvian polymicrogyria
HP:0012677	Iron accumulation in globus pallidus
HP:0012695	Decreased thalamic volume
HP:0012704	Widened subarachnoid space
HP:0012706	Elevated brain choline level by MRS
HP:0012707	Elevated brain lactate level by MRS
HP:0012708	Reduced brain N-acetyl aspartate level by MRS
HP:0012734	Ketotic hypoglycemia
HP:0012736	Profound global developmental delay
HP:0012745	Short palpebral fissure
HP:0012747	Abnormal brainstem MRI signal intensity
HP:0012753	T2 hypointense basal ganglia
HP:0012759	Neurodevelopmental abnormality
HP:0012762	Cerebral white matter atrophy
HP:0012764	Orthopnea
HP:0012805	Iris transillumination defect
HP:0012841	Retinal vascular tortuosity
HP:0012881	Abnormality of the labia majora
HP:0030043	Hip subluxation
HP:0030048	Colpocephaly
HP:0030057	Autoimmune antibody positivity
HP:0030148	Heart murmur
HP:0030166	Night sweats
HP:0030190	Oral motor hypotonia
HP:0030257	Freckled genitalia
HP:0040025	Clinodactyly of the 4th finger
HP:0040075	Hypopituitarism
HP:0040079	Irregular dentition
HP:0040083	Toe walking
HP:0100277	Periauricular skin pits
HP:0100304	Muscle fiber intranuclear inclusion bodies
HP:0100309	Subdural hemorrhage
HP:0100492	Joint contractures involving the joints of the feet
HP:0100512	Vitamin D deficiency
HP:0100543	Cognitive impairment
HP:0100553	Hemihypertrophy of lower limb
HP:0100559	Lower limb asymmetry
HP:0100576	Amaurosis fugax
HP:0100703	Tongue thrusting
HP:0100704	Cortical visual impairment
HP:0100716	Self-injurious behavior
HP:0100738	Abnormal eating behavior
HP:0100750	Atelectasis
HP:0100767	Abnormality of the placenta
HP:0100806	Sepsis
HP:0100814	Blue nevus
HP:0100828	Increase in T cell count
HP:0100874	Thick hair
HP:0100960	Asymmetric ventricles
HP:0200055	Small hand
HP:0200097	Oral mucosal blisters
HP:0200134	Epileptic encephalopathy
HP:0200136	Oral-pharyngeal dysphagia