autosomal dominant intellectual developmental disorder 38

Summary

DOID:0070068 - autosomal dominant intellectual developmental disorder 38

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.

Synonyms: autosomal dominant mental retardation 38, autosomal dominant non-syndromic intellectual disability 38, MRD38, PRELDS, psychomotor retardation, epilepsy, and language disability syndrome

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

: eef1a2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014617 - intellectual disability, autosomal dominant 38

MONDO:0014617 - intellectual disability, autosomal dominant 38

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

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

Parent(s): autosomal dominant intellectual developmental disorder (is_a)