X-linked mental retardation, syndromic, Cabezas type
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Genetics
- associated defects in CUL4B
Clinical manifestations
- severe intellectual deficit
- short stature
- craniofacial dysmorphism
- small testes
- muscle wasting in lower legs
- kyphosis
- joint hyperextensibility
- pes cavus
- small feet
- abnormalities of the toes.
- additional features include
- speech delay & impairment
- tremor
- seizures
- gait ataxia
- attention deficit hyperactivity disorder