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syndromic X-linked intellectual disability 94 (DOID:0060823)
Alliance: disease page
Synonyms: mental retardation, X-linked 94; MRX94; MRXS29; syndromic X-linked intellectual disability due to GRIA3 anomalies; syndromic X-linked mental retardation 29; syndromic X-linked mental retardation Wu type
Alt IDs: OMIM:300699, ICD10CM:F72, ORDO:364028
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory