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distal arthrogryposis type 5D
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease distal arthrogryposis
External Links
- Disease Ontology
- DOID:0111594
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95672 | Endothelin-converting enzyme-like 1 |
