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

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 abnormalitie

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.

Signs and symptoms

• Motor delay
• Severe intellectual disability
• Reduced eye contact
• Delayed ability to sit
• Absent speech
• Delayed ability to walk
• Inability to walk
• Hypotonia
• Broad forehead
• Seizure

Also known as: MRD20; autosomal dominant mental retardation 20; mental retardation, autosomal dominant 20