retinitis pigmentosa 84
MONDO:0032604Mondo
Findings
No curated finding names retinitis pigmentosa 84 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
- Childhood onset
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Macular atrophyHPOHP:0007401
- 1 of 1 reported patient
- Macular pseudocolobomaHPOHP:0001116
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients · Childhood onset
- Rod-cone dystrophyHPOHP:0000510
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- Visual acuity no light perceptionHPOHP:0030553
- 4 of 4 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.
- DHX38HGNC:17211
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of