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PDZD7

PDZ domain containing 7

HCNC Approved Symbol
PDZD7 (HGNC:26257)
Genomic Coordinates
10:101,007,679 - 101,031,129 (10q24.31)
Synonyms
FLJ23209, bA108L7.8, PDZK7, DFNB57
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the PDZD7 gene.

Frequently observed phenotypes

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

Hearing loss
 9 (69.2%)
Hearing impairment
 3 (23.1%)
Delayed intellectual development
 
1 (7.7%)
Delayed language development
 
1 (7.7%)
Loss of consciousness
 
1 (7.7%)
PDZD7 - Gene browser | 3billion