Summary Literature (0)

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,

Xenbase Genes : gria3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010402 - syndromic X-linked intellectual disability 94

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee