Term Name: arthrogryposis multiplex congenita-6
Synonyms:
Definition: An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
Ontology: Human Disease [DOID:0070336]   ( DOID:0070336 )

Relationships
is a type of: arthrogryposis multiplex congenita