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X-linked mental retardation, syndromic, Lubs type
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
a) severe to profound mental retardation with onset at birth
b) axial & facial hypotonia
c) progressive spasticity predominantly at the lower limbs
d) seizures
e) recurrent infections
Database Correlations
OMIM 300260
References
OMIM :accession 300260