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PRR12

proline rich 12

HCNC Approved Symbol
PRR12 (HGNC:29217)
Genomic Coordinates
19:49,591,182 - 49,626,439 (19q13.33)
Synonyms
KIAA1205
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 PRR12 gene.

Frequently observed phenotypes

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

Microphthalmia
 2 (40.0%)
Hypertension
 2 (40.0%)
Intellectual disability
 2 (40.0%)
Chorioretinal coloboma
 1 (20.0%)
Anophthalmia
 1 (20.0%)
PRR12 - Gene browser | 3billion