disease arises from structure disease arises from alteration in structure Xq28 (Human) syndromic disease X-linked myotubular myopathy-abnormal genitalia syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/6753 https://www.malacards.org/card/myotubular_myopathy_with_abnormal_genital_development https://www.malacards.org/card/x_linked_myotubular_myopathy_abnormal_genitalia_syndrome UMLS:C1846169 OMIM:300219 Orphanet:456328 MESH:C564561 MONDO:0010271 myotubular myopathy with abnormal genital development GARD:0017792 X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Xq28 contiguous gene deletion syndrome MEDGEN:335354 X-linked myotubular myopathy partial deletion of the long arm of chromosome X 46,XY disorder of sex development