Human (54 sources):
Abnormal facial shape,
Abnormal pyramidal sign,
Abnormality of peripheral nerve conduction,
Abnormality of the cervical spine,
Abnormality of the dentition,
Acute rhabdomyolysis,
Ataxia,
Axonal degeneration,
Babinski sign,
Camptodactyly of finger,
Cataract,
Cerebral atrophy,
Cerebral cortical atrophy,
Chorea,
Cognitive impairment,
Decreased motor nerve conduction velocity,
Decreased serum estradiol,
Decreased testicular size,
Developmental cataract,
Dysmetria,
Genu recurvatum,
Global developmental delay,
Hypergonadotropic hypogonadism,
Hypoglycemia,
Hypogonadotropic hypogonadism,
Intellectual disability,
Intellectual disability, mild,
Intention tremor,
Intrauterine growth retardation,
Kyphoscoliosis,
Kyphosis,
Long eyelashes,
Malar prominence,
Microcornea,
Micrognathia,
Microphthalmia,
Motor axonal neuropathy,
Motor delay,
Motor polyneuropathy,
Nystagmus,
Osteoporosis,
Paresthesia,
Peripheral axonal degeneration,
Peripheral demyelination,
Peripheral hypomyelination,
Pes cavus,
Primary amenorrhea,
Scoliosis,
Sensory neuropathy,
Short stature,
Split hand,
Strabismus,
Talipes equinovarus,
Ventriculomegaly
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