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CNNM4

cyclin and CBS domain divalent metal cation transport mediator 4

HCNC Approved Symbol
CNNM4 (HGNC:105)
Genomic Coordinates
2:96,760,902 - 96,811,874 (2q11.2)
Synonyms
KIAA1592, ACDP4
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the CNNM4 gene.

Frequently observed phenotypes

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

Retinitis pigmentosa
 2 (40.0%)
Abnormal electroretinogram
 1 (20.0%)
Photophobia
 1 (20.0%)
Progressive night blindness
 1 (20.0%)
Rod-cone dystrophy
 1 (20.0%)
CNNM4 - Gene browser | 3billion