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SPATA7

spermatogenesis associated 7

HCNC Approved Symbol
SPATA7 (HGNC:20423)
Genomic Coordinates
14:88,385,657 - 88,470,350 (14q31.3)
Synonyms
HSD3, LCA3
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the SPATA7 gene.

Frequently observed phenotypes

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

Decreased visual acuity
 6 (42.9%)
Night blindness
 6 (42.9%)
Retinitis pigmentosa
 4 (28.6%)
Retinal dystrophy
 
2 (14.3%)
Visual impairment
 
2 (14.3%)
SPATA7 - Gene browser | 3billion