RS766586470 TSEN54
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Associated Conditions
Inborn genetic diseases
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 4
Inborn genetic diseases
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 4
Other Variants in TSEN54