Conditions / Genetic
primary autosomal recessive microcephaly 13
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
Signs and symptoms
- Microcephaly
- Sloping forehead
- Short foot
- Short stature
- Global developmental delay
- Small for gestational age
- Primary microcephaly
- Intrauterine growth retardation
- Small hand
- Cerebellar hypoplasia
Also known as: MCPH13