syndromic X-linked intellectual disability 94

Summary

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: 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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gria3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010402 - epidermis suprabasal layer

MONDO:0010402 - epidermis suprabasal layer

MIM:

MIM:300699 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE; MRXSW

MIM:300699 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE; MRXSW

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

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

Parent(s): syndromic X-linked intellectual disability (is_a)