Human (118 sources):
Abdominal pain,
Abnormal autonomic nervous system physiology,
Abnormal cardiovascular system morphology,
Abnormal eyebrow morphology,
Abnormal intestine morphology,
Abnormal macular morphology,
Abnormal morphology of female internal genitalia,
Abnormal morphology of the vestibule of the inner ear,
Abnormal pyramidal sign,
Abnormality of retinal pigmentation,
Abnormality of the kidney,
Abnormality of the nose,
Abnormality of the orbital region,
Abnormality of the pulmonary artery,
Abnormality of the voice,
Abnormality of vision,
Absent brainstem auditory responses,
Aganglionic megacolon,
Alacrima,
Anosmia,
Anterior hypopituitarism,
Aplasia of the semicircular canal,
Areflexia,
Arrhythmia,
Arthrogryposis multiplex congenita,
Ataxia,
Axial hypotonia,
Bimanual synkinesia,
Blue irides,
Breast hypoplasia,
Cafe-au-lait spot,
Cerebral dysmyelination,
Cerebral hypomyelination,
Cleft palate,
Color vision defect,
Constipation,
Cryptorchidism,
Decreased fertility,
Decreased lacrimation,
Decreased nerve conduction velocity,
Decreased testicular size,
Delayed puberty,
Delayed skeletal maturation,
Demyelinating peripheral neuropathy,
Dilated vestibule of the inner ear,
Distal amyotrophy,
Distal muscle weakness,
Distal sensory impairment,
Dysarthria,
Dysmyelinating leukodystrophy,
Dyspareunia,
Erectile dysfunction,
Gait disturbance,
Global developmental delay,
Gynecomastia,
Hearing impairment,
Hepatomegaly,
Heterochromia iridis,
Hypogonadism,
Hypogonadotropic hypogonadism,
Hypohidrosis,
Hypopigmentation of hair,
Hypopigmentation of the fundus,
Hypopigmented skin patches,
Hypoplasia of penis,
Hypoplasia of the iris,
Hypoplasia of the semicircular canal,
Hyporeflexia,
Hyposmia,
Hypothalamic gonadotropin-releasing hormone deficiency,
Hypotonia,
Ichthyosis,
Ileus,
Intellectual disability,
Intestinal obstruction,
Lacrimal gland hypoplasia,
Long-segment aganglionic megacolon,
Microcolon,
Micropenis,
Muscle weakness,
Myelin outfoldings,
Neonatal hypotonia,
Nystagmus,
Obesity,
Ocular albinism,
Olfactory lobe agenesis,
Paraplegia,
Pectus excavatum,
Peripheral demyelination,
Peripheral hypomyelination,
Peripheral neuropathy,
Pes cavus,
Pes planus,
Premature graying of hair,
Primary amenorrhea,
Prominent nasal bridge,
Ptosis,
Recurrent fractures,
Reduced bone mineral density,
Renal agenesis,
Seizure,
Sensorineural hearing impairment,
Skeletal dysplasia,
Spastic paraparesis,
Spastic tetraplegia,
Spasticity,
Splenomegaly,
Synophrys,
Telecanthus,
Tooth agenesis,
Tremor,
Underdeveloped nasal alae,
Vascular dilatation,
Visual impairment,
White eyebrow,
White eyelashes,
White forelock,
Wide nasal bridge
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