hypogonadotropic hypogonadism 6 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 6 with or without anosmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.
Definition from the Mondo Disease Ontology (MONDO:0012988), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- MicropenisHPOHP:0000054
- 2 of 3 reported patients
- Hypogonadotropic hypogonadismHPOHP:0000044
- 5 of 8 reported patients
- Primary amenorrheaHPOHP:0000786
- 2 of 5 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 2 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 8 reported patients
- HyposmiaHPOHP:0004409
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.
- FGF8HGNC:3686
- Strong · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 6 with or without anosmia
- Also called
- FGF8 hypogonadotropic hypogonadismhypogonadotropic hypogonadism caused by mutation in FGF8