Conditions / Genetic
primary autosomal recessive microcephaly 7
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
Signs and symptoms
- Sloping forehead
- Absent speech
- Global developmental delay
- Primary microcephaly
- Prominent nose
- Intellectual disability
- Simplified gyral pattern
- Severe intellectual disability
- Seizure
- Solitary median maxillary central incisor
Also known as: MCPH7