primary autosomal recessive microcephaly 14

info · Genetic

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.

Signs and symptoms

Poor speech
Cerebellar vermis hypoplasia
Aggressive behavior
Global developmental delay
Primary microcephaly
Severe intellectual disability
Seizure

Also known as: MCPH14