Conditions / Genetic
primary autosomal recessive microcephaly 6
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
Signs and symptoms
- Microcephaly
- Moderate intellectual disability
- Strabismus
- Seizure
- Global developmental delay
- Microtia
- Hypertelorism
- Bifid nasal tip
- Small cerebral cortex
- Absent speech
Also known as: MCPH6