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distal arthrogryposis type 3
Summary
- Synonym
-
- DA3
- Gordon syndrome
- camptodactyly-cleft palate-clubfoot syndrome
- distal arthrogryposis multiplex congenita type IIA
- Definition
- A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
- Super Class
- autosomal dominant disease distal arthrogryposis
External Links
- Disease Ontology
- DOID:0111607
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
