Version: 8.0.0
Date: Tue Jan 28 2025
arthrogryposis multiplex congenita-6
DOID:0070336
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

arthrogryposis multiplex congenita-6

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.
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None
Cross References
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