X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

Summary

DOID:0080311 - X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene.

Synonyms:

Echinobase 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

MIM:

MIM:300486 - mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance

MIM:300486 - mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance

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)