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linear skin defects with multiple congenital anomalies 3
Summary
- Synonym
-
- LSDMCA3
- linear skin defects with cardiomyopathy and other congenital anomalies
- Definition
- A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3.
- Super Class
- MLS syndrome X-linked dominant disease physical disorder
External Links
- Disease Ontology
- DOID:0111876
- Mondo Disease Ontology
- OMIM
