hypogonadotropic hypogonadism 7 with or without anosmia
Findings
No curated finding names hypogonadotropic hypogonadism 7 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 or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
Definition from the Mondo Disease Ontology (MONDO:0007794), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
8 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.
- Decreased testicular sizeHPOHP:0008734
- 1 of 1 reported patient
- Hypogonadotropic hypogonadismHPOHP:0000044
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- Primary amenorrheaHPOHP:0000786
- 1 of 1 reported patient
- Sparse axillary hairHPOHP:0002215
- 1 of 1 reported patient
- Sparse pubic hairHPOHP:0002225
- 1 of 1 reported patient
- Abnormality of the sense of smellHPOHP:0004408
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.
- GNRHRHGNC:4421
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: hypogonadotropic hypogonadism 7 with or without anosmia
- Also called
- hypogonadotropic hypogonadism 7 without anosmia