autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures

An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_mate

An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.

Signs and symptoms

• Inability to walk
• Dystonia
• Hypotonia
• Severe intellectual disability
• Delayed ability to sit
• EEG abnormality
• Absent speech
• Global developmental delay
• Autistic behavior
• Self-injurious behavior

Also known as: NDHMSR