cone-rod dystrophy 13
MONDO:0011987Mondo
Findings
No curated finding names cone-rod dystrophy 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011987), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Adult onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- Abnormal electroretinogramHPOHP:0000512
- 15 of 15 reported patients
- Abnormal fundus pigmentationHPOHP:0031605
- 5 of 5 reported patients
- Color vision defectHPOHP:0000551
- Childhood onset
- 5 of 5 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 5 of 5 reported patients
- HypermetropiaHPOHP:0000540
- 4 of 4 reported patients
- Macular degenerationHPOHP:0000608
- 15 of 15 reported patients
- MyopiaHPO
Show the remaining 13
- Moderately reduced visual acuityHPOHP:0030515
- 8 of 14 reported patients
- Macular atrophyHPOHP:0007401
- 6 of 11 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 7 of 13 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 7 of 14 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 6 of 13 reported patients
- Optic disc pallorHPOHP:0000543
- 4 of 13 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.
- RPGRIP1HGNC:13436
- Definitive · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: cone-rod dystrophy 13
- Also called
- cone-rod dystrophy caused by mutation in RPGRIP1cone-rod dystrophy type 13CORD13RPGRIP1 cone-rod dystrophy