syndromic X-linked intellectual disability Nascimento type

Summary

DOID:0060820 - syndromic X-linked intellectual disability Nascimento type

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.

Synonyms: X-linked intellectual disability-nail dystrophy-seizures syndrome, mental retardation, X-linked syndromic, Nascimento-type,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: LOC762707

OMIM:

MIM:300860 - mental retardation, x-linked, syndromic, nascimento type; mrxsn

MIM:300860 - mental retardation, x-linked, syndromic, nascimento type; mrxsn

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

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

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