Term Name: | linear skin defects with multiple congenital anomalies 3 |
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Synonyms: | linear skin defects with cardiomyopathy and other congenital anomalies, LSDMCA3 |
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. |
Ontology: | Human Disease [DOID:0111876] ( DOID:0111876 ) |