Term Name: lethal congenital contracture syndrome 1
Synonyms: LCCS1, multiple contracture syndrome, Finnish type
Definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.
Ontology: Human Disease [DOID:0060559]   ( DOID:0060559 )

Relationships
is a type of: lethal congenital contracture syndrome