Term Name: lethal congenital contracture syndrome 3
Synonyms: Israeli Bedouin type B multiple contracture syndrome
Definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
Ontology: Human Disease [DOID:0060653]   ( DOID:0060653 )

Relationships
is a type of: lethal congenital contracture syndrome