chromosome Xp11.22 duplication syndrome

Summary

DOID:0112037 - chromosome Xp11.22 duplication syndrome

Disease Ontology Definition:A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.

Synonyms: MRX17, MRX31, X-linked mental retardation 17, X-linked mental retardation 31, Xp11.22 microduplication 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

: hsd17b10

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)