hypotaurinemic retinal degeneration and cardiomyopathy
MONDO:0007777Mondo
Findings
No curated finding names hypotaurinemic retinal degeneration and cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
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
- 2 of 2 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 2 reported patients
- High hypermetropiaHPOHP:0008499
- 2 of 2 reported patients
- HypotaurinemiaHPOHP:0500182
- 4 of 4 reported patients
- Left ventricular systolic dysfunctionHPOHP:0025169
- 2 of 2 reported patients
- Macular atrophyHPOHP:0007401
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Peripheral retinal atrophyHPOHP:0200070
- 2 of 2 reported patients
- Peripheral visual field lossHPOHP:0007994
- 2 of 2 reported patients
- Photoreceptor layer loss on macular OCTHPOHP:0030609
- 4 of 4 reported patients
- Retinal thinning on OCTHPOHP:0030329
- 2 of 2 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 1 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.
- SLC6A6HGNC:11052
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of