Conditions / Nervous system
arthrogryposis multiplex congenita-5
info · Nervous system
An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
Signs and symptoms
- Strabismus
- Dystonia
- Cardiac arrest
- Flexion contracture
- Generalized hypotonia
- Acanthocytosis
- 11 pairs of ribs
- Round face
- Hammertoe
- Hand clenching