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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
Database Correlations
OMIM 300699
References
UniProt :accession P42263