Summary Literature (0)

DOID:0070050 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3.

Synonyms: autosomal dominant mental retardation 20, mental retardation, autosomal dominant 20, MRD20

Xenbase Genes : mef2c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013266 - intellectual disability, autosomal dominant 20

MIM:

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

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

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