Term Name: lethal congenital contracture syndrome 5
Synonyms:
Definition: A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13.
Ontology: Human Disease [DOID:0061261]   ( DOID:0061261 )

Relationships
is a type of: lethal congenital contracture syndrome