label: X-linked myotubular myopathy-abnormal genitalia syndrome
label_lc: x-linked myotubular myopathy-abnormal genitalia syndrome
description: "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."