Summary Literature (0)

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 :


OMIM:

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

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

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