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RDH12

retinol dehydrogenase 12

HCNC Approved Symbol
RDH12 (HGNC:19977)
Genomic Coordinates
14:67,701,886 - 67,734,451 (14q24.1)
Synonyms
FLJ30273, SDR7C2, LCA13, RP53
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

28Patients

In total, 28 patients were diagnosed with a variant in the RDH12 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Retinal dystrophy
 10 (35.7%)
Retinitis pigmentosa
 10 (35.7%)
Retinal disease
 
4 (14.3%)
Cone-rod dystrophy
 
3 (10.7%)
Photophobia
 
3 (10.7%)
RDH12 - Gene browser | 3billion