RS1266242324 TSEN54
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Associated Conditions
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Methylmalonic aciduria and homocystinuria type cblD
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Methylmalonic aciduria and homocystinuria type cblD
Other Variants in TSEN54