primary autosomal recessive microcephaly 12

info · Genetic

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.

Signs and symptoms

Sloping forehead
Mild intellectual disability
Primary microcephaly
Simplified gyral pattern
Seizure

Also known as: MCPH12