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Up to: Syndromic disease · 46,XY disorder of sex development · X-linked myotubular myopathy · Partial deletion of the long arm of chromosome X
X-linked myotubular myopathy-abnormal genitalia syndrome
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.
This condition has no sub-types.