Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871 2001
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. 28485664 2017