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Summary Literature (0)
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

Xenbase Genes : ube2a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010461 - syndromic X-linked intellectual disability Nascimento type

OMIM:
OMIM:300860 - INTELLECTUAL DEVELOPMENTAL DISORDER, 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)