glycosylphosphatidylinositol biosynthesis defect 16

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.

Signs and symptoms

• Poor speech
• Delayed ability to walk
• Seizure
• Global developmental delay
• Intellectual disability
• Elevated circulating alkaline phosphatase concentration

Also known as: Intellectual developmental disorder, autosomal recessive 62