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distal arthrogryposis type 5
Summary
- Synonym
-
- DA5
- DAIIB
- arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- distal arthrogryposis type IIB
- distal arthrogryposis with ophthalmoplegia
- oculomelic amyoplasia
- Definition
- A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
- Super Class
- autosomal dominant disease distal arthrogryposis
External Links
- Disease Ontology
- DOID:0111608
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
