Preferred Label : XXXY and XXXXY Syndrome;
NCIt definition : Rare syndromes caused by chromosomal defects and characterized by the presence of
multiple X chromosomes and one Y chromosome. Signs and symptoms include short stature,
mental retardation, hypogonadism, undescended testes, gynecomastia, and hypotonia.;
Origin ID : C85236;
UMLS CUI : C2827598;
Semantic type(s)
- disease_has_finding
