Conditions / Genetic
primary autosomal recessive microcephaly 22
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25.
Signs and symptoms
- Microcephaly
- Short stature
- Seizure
- Moderate global developmental delay
- Small for gestational age
- Limb hypertonia