cone-rod dystrophy 16
MONDO:0013786Mondo
Findings
No curated finding names cone-rod dystrophy 16 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 C8orf37 gene.
Definition from the Mondo Disease Ontology (MONDO:0013786), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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
- 4 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 3 of 6 reported patients
- Postaxial polydactylyHPOHP:0100259
- 2 of 6 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 6 reported patients
- Beaten bronze macular sheenHPOHP:0025147
- Cone/cone-rod dystrophyHPOHP:0000548
- Macular atrophyHPOHP:0007401
- Nyctalopia
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.
- CFAP418HGNC:27232
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: cone-rod dystrophy 16
- Also called
- C8orf37 cone-rod dystrophycone-rod dystrophy caused by mutation in C8orf37cone-rod dystrophy type 16CORD16retinal dystrophy with early macular involvement