Conditions / Syndrome
lethal congenital contracture syndrome 4
info · Syndrome
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
Signs and symptoms
- Skeletal muscle atrophy
- Flexion contracture
- Distal arthrogryposis
- Multiple joint contractures
- Respiratory insufficiency