X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
Definition
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.
Also known as Xq28 contiguous gene deletion syndrome — per MONDO