Conditions / Genetic
primary autosomal recessive microcephaly 3
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.
Signs and symptoms
- Sloping forehead
- Moderate intellectual disability
- Short stature
- Global developmental delay
- Primary microcephaly
- Prominent nose
- Partial agenesis of the corpus callosum
- Growth delay
- Proptosis
- Mixed hearing impairment
Also known as: MCPH3