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.
MONDO:0002254
syndromic disease
is_a
MONDO:0010683
X-linked myotubular myopathy
is_a
MONDO:0017007
partial deletion of the long arm of chromosome X
is_a
MONDO:0020040
46 XY differences of sex development
is_a
Xq28 contiguous gene deletion syndrome
exact