autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures

An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominan

An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.

Signs and symptoms

• Inability to walk
• Severe intellectual disability
• Intellectual disability
• Ventriculomegaly
• Hypoplasia of the corpus callosum
• Long face
• Deeply set eye
• Chorea
• Hyperkinetic movements
• Dystonia

Also known as: MRD8; NDHMSD; autosomal dominant intellectual developmental disorder 8; autosomal dominant mental retardation 8; autosomal dominant non-syndromic intellectual disability 8