Conditions / Genetic
distal arthrogryposis type 1B
info · Genetic
A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.
Signs and symptoms
- Distal arthrogryposis
- Foot joint contracture
- Talipes equinovarus
- Camptodactyly
- Arthrogryposis multiplex congenita
- Joint contracture of the hand
- Rocker bottom foot
Also known as: DA1B