autosomal recessive intellectual developmental disorder 1

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.

Signs and symptoms

• Severe intellectual disability
• Hyperactive deep tendon reflexes
• Strabismus
• Babinski sign
• Nystagmus
• Increased circulating lactate concentration