The diagnosis relies on clinical presentations, physical examination, extensive evaluation of past medical history and family history, and karyotype testing. A 46,XX compatibility is an expected finding of the karyotype test. Laboratory tests and diagnostic imaging are typically insignificant for diagnosis. The relationship of the parents as well as family history of X-linked, autosomal dominant, and autosomal disorders should be considered to confirm<unk> .
SCARF syndrome
Fabry disease
McKittrick-Wheelock syndrome
CAMFAK syndrome
Smith–Fineman–Myers syndrome
Flynn–Aird syndrome
Marfan syndrome
Danon disease