non-syndromic X-linked intellectual disability 1

Summary

DOID:0112038 - non-syndromic X-linked intellectual disability 1

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.

Synonyms: MRX1, MRX18, MRX78, X-linked mental retardation 1, X-linked mental retardation 1/78, X-linked mental retardation 18, X-linked mental retardation 78

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

: iqsec2

MIM:

MIM:309530 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; XLID1

MIM:309530 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; XLID1

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 dominant disease (is_a)