DISEASES

Disease-gene associations mined from literature

Human genes for neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language [DOID:0070050]

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 MEF2C on chromosome 5q14.3.

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