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Kallmann syndrome-heart disease syndrome

Disease Summary
Associated Targets ()

Mondo Description Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
Mondo Term and Equivalent IDs
MONDO:0016515:  Kallmann syndrome-heart disease syndrome
Orphanet:2326: 
UMLS:CN201538: