distal arthrogryposis type 5D

Term ID

DOID:0111594

Synonyms

• DA5D
• distal arthrogryposis type 5 without ophthalmoparesis
• distal arthrogryposis type 5 without ophthalmoplegia

Definition

A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. https://www.ncbi.nlm.nih.gov/pubmed/23261301

References

• OMIM:615065
• ORDO:329457
• SNOMEDCT_US_2021_09_01:773396009

Ontology

Human Disease   ( DOID:0111594 )