hypogonadotropic hypogonadism 12 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 12 with or without anosmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.
Definition from the Mondo Disease Ontology (MONDO:0013914), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent pubic hairHPOHP:0002555
- MicropenisHPOHP:0000054
- Male
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNRH1HGNC:4419
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hypogonadotropic hypogonadism 12 with or without anosmia
- Also called
- eunuchoidism, familial hypogonadotropic