Conditions / Genetic
primary autosomal recessive microcephaly 16
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
Signs and symptoms
- Hypermelanotic macule
- Sloping forehead
- Spastic tetraplegia
- Hypopigmented macule
- Agenesis of corpus callosum
- Primary microcephaly
- Drooling
- Spasticity
- Cryptorchidism
- Simplified gyral pattern
Also known as: MCPH16