syndromic X-linked intellectual disability Turner type

Summary

DOID:0060811 - syndromic X-linked intellectual disability Turner type

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22.

Synonyms: Brooks-Wisniewski-Brown syndrome, mental retardation and macrocephaly syndrome, mental retardation, X-linked syndromic, Turner type, MRXST, X-linked intellectual disability, Brooks type

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

: huwe1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

MONDO:0010407 - intellectual disability, X-linked syndromic, Turner type

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

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

Parent(s): syndromic X-linked intellectual disability (is_a)