Human (49 sources):
Abnormal isoelectric focusing of serum transferrin,
Abnormality of the frontal hairline,
Atrophy/Degeneration affecting the brainstem,
Autistic behavior,
Brain atrophy,
Brisk reflexes,
Camptodactyly of finger,
Cerebellar atrophy,
Cerebral visual impairment,
Cerebral white matter atrophy,
Cryptorchidism,
Delayed myelination,
Delayed speech and language development,
Diffuse cerebral atrophy,
Dilation of lateral ventricles,
Elevated circulating hepatic transaminase concentration,
Finger clinodactyly,
Gastrostomy tube feeding in infancy,
Genu valgum,
Hepatomegaly,
Hepatosplenomegaly,
High palate,
Hypotonia,
Infantile muscular hypotonia,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, severe,
Intrauterine growth retardation,
Joint contracture of the hand,
Low-set ears,
Microcephaly,
Micropenis,
Motor delay,
Neurogenic bladder,
Oligohydramnios,
Posteriorly rotated ears,
Premature skin wrinkling,
Prominent nose,
Retrognathia,
Seizure,
Sensorineural hearing impairment,
Short neck,
Short stature,
Strabismus,
Truncal ataxia,
Type I transferrin isoform profile,
Urinary incontinence,
Wide nasal bridge
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