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X-linked mental retardation, syndromic, OPHN1-related (MRXSO)
Pathology:
- cerebellar hypoplasia
Genetics:
- associated with defects in OPHN1
Clinical manifestations:
- syndromic mental retardation
- patients present mental retardation associated with cerebellar dysfunction & distinctive facial dysmorphism
Notes:
- formerly designated MRX60
Database Correlations
OMIM 300486
References
OMIM :accession 300486