Conditions / Genetic
primary autosomal recessive microcephaly 10
info · Genetic
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13.
Signs and symptoms
- Severe global developmental delay
- Primary microcephaly
- Hypertonia
- Cerebral atrophy
- Sloping forehead
- Choanal atresia
- Delayed CNS myelination
- Cerebellar atrophy
- Agenesis of corpus callosum
- Gliosis
Also known as: MCPH10