RCBTB1-related retinopathy
MONDO:0014955Mondo
Findings
No curated finding names RCBTB1-related retinopathy 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
- Adult onset · Juvenile 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.
- Retinal dystrophyHPOHP:0000556
- 6 of 6 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 3 of 5 reported patients · Female
- GoiterHPOHP:0000853
- 3 of 10 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 10 reported patients
- Secondary amenorrheaHPOHP:0000869
- 1 of 5 reported patients · Female
- Pulmonary fibrosisHPOHP:0002206
- 1 of 10 reported patients
- Reduced visual acuityHPOHP:0007663
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.
- RCBTB1HGNC:18243
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: RCBTB1-related retinopathy
- Also called
- RDEOAretinal dystrophy with or without extraocular anomalies