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Summary Literature (1)
DOID:0070050 - mental retardation, autosomal dominant 20


Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MEF2C on chromosome 5q14.3.

Synonyms: MRD20, autosomal dominant mental retardation 20

Xenbase Genes : mef2c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013266 - intellectual disability, autosomal dominant 20

OMIM:
OMIM:613443 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant non-syndromic intellectual disability (is_a)