Conditions / Genetic
pontocerebellar hypoplasia type 12
info · Genetic
A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2.
Signs and symptoms
- Sloping forehead
- Cerebellar hypoplasia
- Primary microcephaly
- Hypoplasia of the brainstem
- Cerebral hypoplasia
- Polyhydramnios
- Lateral ventricle dilatation
- Cerebral atrophy
- Talipes equinovarus
- Overlapping fingers
Also known as: COASY-related pontocerebellar hypoplasia; PCH12