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

: ube2a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

MIM:

MIM:300860 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

MIM:300860 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

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)