retinal dystrophy and obesity
MONDO:0014522Mondo
Findings
No curated finding names retinal dystrophy and obesity 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
11 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.
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Peripapillary atrophyHPOHP:0500087
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Retinal detachmentHPOHP:0000541
- 1 of 1 reported patient
- Retinal dotsHPOHP:0032027
- 1 of 1 reported patient
- Retinal dystrophyHPOHP:0000556
- 1 of 1 reported patient
- Retinal pigment epithelial atrophyHPOHP:0007722
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient
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.
- TUBHGNC:12406
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2017
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of