retinitis pigmentosa 92
MONDO:0030619Mondo
Findings
No curated finding names retinitis pigmentosa 92 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
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.
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients
- Paracentral scotomaHPOHP:0030528
- 1 of 1 reported patient
- Pigmentary retinopathyHPOHP:0000580
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
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.
- HKDC1HGNC:23302
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: retinitis pigmentosa 92
- Also called
- RP92