non-syndromic X-linked intellectual disability 30

Summary

DOID:0112051 - non-syndromic X-linked intellectual disability 30

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.

Synonyms: MRX30, MRX47, X-linked mental retardation 30, X-linked mental retardation 30/47, X-linked mental retardation 47

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

: pak3

MIM:

MIM:300558 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; XLID30

MIM:300558 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; XLID30

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

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

Parent(s): non-syndromic X-linked intellectual disability (is_a), X-linked recessive disease (is_a)