Term Name: | arthrogryposis multiplex congenita-6 |
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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 ) |