arthrogryposis multiplex congenita-6

Term ID

DOID:0070336

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. https://pubmed.ncbi.nlm.nih.gov/33376055/

References

• OMIM:619334

Ontology

Human Disease   ( DOID:0070336 )