Synonyms: RDEOA RCBTB1-related retinopathy retinal dystrophy with or without extraocular anomalies
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:617175 (MONDO:equivalentTo)
- GARD:18241 (OMIM:617175)
- UMLS:C4310680 (MONDO:ncbi_mim2gene_medline)
Subsets
gard_rare, rare, nord_rare, clingen
comment
RCBTB1-related retinopathy describes a range of retinal phenotypes caused by bi-allelic variants in the RCBTB1 gene. While extra-ocular phenotypes in addition to retinopathy have been reported in some patients, no clear pattern has been observed.