Condition: Primary hypogonadism
rs1565572949
in
LOC105369759;DHH
gene and
Primary hypogonadism
PMID 30298535
2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
rs864309645
in
SOHLH1
gene and
Primary hypogonadism
PMID 25774885
2015 Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.