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DOID:0060823 - syndromic X-linked intellectual disability 94
Disease Ontology 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.
Synonyms: MRX94, MRXS29, mental retardation, X-linked 94, syndromic X-linked intellectual disability due to GRIA3 anomalies, syndromic X-linked mental retardation 29, syndromic X-linked mental retardation Wu type,
Echinobase Genes :
MIM:300699 - mental retardation, x-linked, syndromic, wu type; mrxsw |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee