Conditions / Genetic
distal arthrogryposis type 2B1
info · Genetic
A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5.
Signs and symptoms
- Downslanted palpebral fissures
- Ulnar deviation of the wrist
- Absent phalangeal crease
- Long philtrum
- Wide nasal bridge
- Talipes equinovarus
- Scoliosis
- Short stature
- Narrow mouth
- Distal arthrogryposis
Also known as: DA2B1