Metadata | |
---|---|
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/ |
Xrefs | |
Parent Relationships |