Visualize Submit Comment

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	MIM:619334
Parent Relationships	is_a arthrogryposis multiplex congenita
Subclass Logical Relationships	existence starts during some Congenital onset