non-syndromic X-linked intellectual disability 103

Summary

DOID:0112020 - non-syndromic X-linked intellectual disability 103

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.

Synonyms: MRX103, X-linked mental retardation 103

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

: klhl15

MIM:

MIM:300982 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103; XLID103

MIM:300982 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103; XLID103

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)