Term Name: lethal congenital contracture syndrome 7
Synonyms:
Definition: A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21.
Ontology: Human Disease [DOID:0061263]   ( DOID:0061263 )

Relationships
is a type of: lethal congenital contracture syndrome