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mental retardation syndromic X-linked JARID1C-related (MRXSJ)
Genetics:
- associated with defects in KDM5C
Clinical manifestations:
- mental retardation
- impairments in adaptative behavior manifested during development
- variable features
a) slowly progressive spastic paraplegia
b) seizures
c) facial dysmorphism
General
X-linked mental retardation syndromic
Database Correlations
OMIM 300534
References
OMIM :accession 300534