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Sakati-Nyhan syndrome
Summary
- Synonym
-
- ACPS with leg hypoplasia
- Sakati syndrome
- Sakati-Nyhan-Tisdale syndrome
- acrocephalopolysyndactyly Type III
- acrocephalopolysyndactyly type 3
- Definition
- An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
- Super Class
- acrocephalosyndactylia
External Links
- Disease Ontology
- DOID:0060359
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
