neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Term ID

DOID:0070050

Synonyms

• autosomal dominant mental retardation 20
• mental retardation, autosomal dominant 20
• MRD20

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. https://www.ncbi.nlm.nih.gov/pubmed/20513142

References

• MIM:613443

Ontology

Human Disease   ( DOID:0070050 )