Term Name: lethal congenital contracture syndrome 8
Synonyms:
Definition: A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13.
Ontology: Human Disease [DOID:0061264]   ( DOID:0061264 )

Relationships
is a type of: lethal congenital contracture syndrome