Conditions / Nervous system
arthrogryposis multiplex congenita-1
info · Nervous system
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13.
Signs and symptoms
- Narrow forehead
- Poor head control
- Bilateral tonic-clonic seizure
- Strabismus
- Focal impaired awareness seizure
- Hip contracture
- Scapular winging
- Hypotonia
- Dental crowding
- High palate