hypogonadotropic hypogonadism 9 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 9 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 NSMF gene.
Definition from the Mondo Disease Ontology (MONDO:0013911), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- AnosmiaHPOHP:0000458
- 1 of 3 reported patients
- Bifid noseHPOHP:0011803
- 1 of 3 reported patients · Congenital onset
- Duane anomalyHPOHP:0009921
- 1 of 3 reported patients
- ClinodactylyHPOHP:0030084
- Hypogonadotropic hypogonadismHPOHP:0000044
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.
- NSMFHGNC:29843
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: hypogonadotropic hypogonadism 9 with or without anosmia
- Also called
- hypogonadotropic hypogonadism caused by mutation in NSMFNSMF hypogonadotropic hypogonadism