primary autosomal recessive microcephaly 17

info · Genetic

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.

Signs and symptoms

Delayed fine motor development
Thick vermilion border
Intellectual disability
Delayed speech and language development
Global developmental delay
Delayed gross motor development
Delayed early-childhood social milestone development
Primary microcephaly
Macrotia
Simplified gyral pattern

Also known as: MCPH17