Human (119 sources):
Abnormal auditory evoked potentials,
Abnormal hair morphology,
Abnormal nasal morphology,
Abnormal peripheral myelination,
Abnormal pinna morphology,
Abnormality of immune system physiology,
Abnormality of retinal pigmentation,
Abnormality of skin pigmentation,
Abnormality of visual evoked potentials,
Adducted thumb,
Anhidrosis,
Aplasia/Hypoplasia of the cerebellum,
Arrhythmia,
Arthrogryposis multiplex congenita,
Ataxia,
Atypical scarring of skin,
Basal ganglia calcification,
Bilateral microphthalmos,
Blepharophimosis,
Camptodactyly of finger,
Carious teeth,
Cataract,
Cerebellar calcifications,
Cerebellar hypoplasia,
Cerebral atrophy,
Cerebral calcification,
Cerebral cortical atrophy,
Cryptorchidism,
Cutaneous photosensitivity,
Decreased body weight,
Decreased lacrimation,
Decreased nerve conduction velocity,
Deeply set eye,
Delayed eruption of primary teeth,
Dental malocclusion,
Dermal atrophy,
Dislocated radial head,
Dry hair,
Dry skin,
EEG abnormality,
Everted lower lip vermilion,
Failure to thrive,
Failure to thrive in infancy,
Feeding difficulties in infancy,
Flared metaphysis,
Flexion contracture of toe,
Global developmental delay,
Hepatomegaly,
Hip dislocation,
Hypermetropia,
Hyperreflexia,
Hypertension,
Hypogonadism,
Hypoplasia of teeth,
Hypoplasia of the iris,
Hypoplastic iliac wing,
Hypoplastic pelvis,
Hypotonia,
Increased cellular sensitivity to UV light,
Intellectual disability,
Intrauterine growth retardation,
Ivory epiphyses of the phalanges of the hand,
Joint stiffness,
Kyphoscoliosis,
Kyphosis,
Limitation of joint mobility,
Loss of facial adipose tissue,
Mandibular prognathia,
Microcephaly,
Microcornea,
Micrognathia,
Micropenis,
Microphthalmia,
Muscle weakness,
Normal pressure hydrocephalus,
Nystagmus,
Opacification of the corneal stroma,
Optic atrophy,
Osteoporosis,
Patchy demyelination of subcortical white matter,
Peripheral dysmyelination,
Peripheral neuropathy,
Pigmentary retinopathy,
Polymicrogyria,
Polyneuropathy,
Premature closure of fontanelles,
Prematurely aged appearance,
Progeroid facial appearance,
Prominent metopic ridge,
Prominent nasal bridge,
Proteinuria,
Reduced subcutaneous adipose tissue,
Reduced tendon reflexes,
Renal insufficiency,
Rocker bottom foot,
Seizure,
Sensorineural hearing impairment,
Severe failure to thrive,
Severe global developmental delay,
Severe short stature,
Short neck,
Short philtrum,
Short stature,
Simplified gyral pattern,
Slender long bone,
Slender nose,
Small for gestational age,
Sparse hair,
Spasticity,
Splenomegaly,
Square pelvis bone,
Strabismus,
Subcortical white matter calcifications,
Talipes equinovarus,
Thickened calvaria,
Tremor,
Visual impairment,
Wide nasal bridge,
obsolete Low-set, posteriorly rotated ears
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