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ID DOID:0070336
Name 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.
https://pubmed.ncbi.nlm.nih.gov/33376055/
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MIM:619334

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is_a arthrogryposis multiplex congenita

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