Conditions / Nervous system
arthrogryposis multiplex congenita-4
info · Nervous system
An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23.
Signs and symptoms
- Seizure
- Narrow mouth
- Agenesis of corpus callosum
- Prominent forehead
- Bulbous nose
- Feeding difficulties in infancy
- Hand clenching
- Polyhydramnios
- Thin vermilion border
- Global developmental delay
Also known as: Zain syndrome