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

More general terms

• X-linked mental retardation syndromic

Database

• OMIM: https://mirror.omim.org/entry/300486