autosomal recessive intellectual developmental disorder 83

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or co

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Moderate intellectual disability
• Mild intellectual disability
• Relative macrocephaly
• Intellectual disability
• Sleep onset insomnia
• Maintenance insomnia
• Conductive hearing impairment
• Clinodactyly of the 5th finger
• Receptive language delay

Also known as: MRT83