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- Be8cfe5b43d6522229c2e4f993c289342 hasDbXref "Orphanet:456328" @default.
- Be8cfe5b43d6522229c2e4f993c289342 type Axiom @default.
- Be8cfe5b43d6522229c2e4f993c289342 annotatedProperty IAO_0000115 @default.
- Be8cfe5b43d6522229c2e4f993c289342 annotatedSource MONDO_0010271 @default.
- Be8cfe5b43d6522229c2e4f993c289342 annotatedTarget "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." @default.