mental retardation, X-linked 94

Genetics

• results from defect in GRIA3

Clinical manifestations

• moderate mental retardation
• variable features include: macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness & hyporeflexia

More general terms

• X-linked mental retardation

Database

• OMIM: https://mirror.omim.org/entry/300699