RS201089582 TSEN54

Health Risk Chr 17:75516772
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Associated Conditions
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 5
Inborn genetic diseases
TSEN54-related disorder
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 5
Inborn genetic diseases
TSEN54-related disorder
Other Variants in TSEN54
rs113994152 rs113994153 rs113994154 rs886037629 rs398124622 rs587784478 rs587784479 rs200434678 rs587784475 rs587784476
Ask Dr. Hemsworth about this variant