Conditions / Genetic
primary autosomal recessive microcephaly 4
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15.
Signs and symptoms
- Sloping forehead
- Thick eyebrow
- Delayed speech and language development
- Short stature
- Global developmental delay
- Primary microcephaly
- Low hanging columella
- Synophrys
- Intellectual disability
- Cerebellar vermis hypoplasia
Also known as: MCPH4