syndromic X-linked intellectual disability 14

Summary

DOID:0060821 - syndromic X-linked intellectual disability 14

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.

Synonyms: mental retardation, X-linked, syndromic 14

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

: upf3b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010398 - syndromic X-linked intellectual disability 14

MONDO:0010398 - syndromic X-linked intellectual disability 14

MIM:

MIM:300676 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14; MRXS14

MIM:300676 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14; MRXS14

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)