Conditions / Genetic
primary autosomal recessive microcephaly 20
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31.
Signs and symptoms
- Severe intellectual disability
- Microcephaly
- Strabismus
- Poor speech
- Sloping forehead
- Generalized hypotonia
- Blindness
- Intellectual disability
- Small cerebral cortex
- Simplified gyral pattern