Conditions / Syndrome
lethal congenital contracture syndrome 3
info · Syndrome
A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Signs and symptoms
- Skeletal muscle atrophy
- Multiple joint contractures
- Arthrogryposis multiplex congenita
- Respiratory insufficiency
Also known as: Israeli Bedouin type B multiple contracture syndrome