Conditions / Genetic
primary autosomal recessive microcephaly 1
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
Signs and symptoms
- Primary microcephaly
- Intellectual disability
- Small cerebral cortex
- Increased rate of premature chromosome condensation
- Short stature
- Seizure
Also known as: MCPH1