X-linked mental retardation, syndromic, Lubs type
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Genetics
- X-linked
- chromosomal duplication involving MECP2
- increased dosage of MECP2 appears to be responsible for the mental retardation phenotype
Clinical manifestations
- main features present in affected males
- severe to profound mental retardation with onset at birth
- axial & facial hypotonia
- progressive spasticity predominantly at the lower limbs
- seizures
- recurrent infections