Conditions / Genetic
primary autosomal recessive microcephaly 5
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
Signs and symptoms
- Epicanthus
- Sloping forehead
- Upslanted palpebral fissure
- Motor delay
- High palate
- Intellectual disability
- Opisthotonus
- Lateral ventricle dilatation
- Microcephaly
- Delayed speech and language development
Also known as: MCPH5