RS746930990 ITPA
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What This Variant Does
"CLNSIG=5
Associated Conditions
Developmental and epileptic encephalopathy
35
Inosine triphosphatase deficiency
ITPA-related disorder
Infantile epileptic dyskinetic encephalopathy
Developmental and epileptic encephalopathy
35
Inosine triphosphatase deficiency
ITPA-related disorder
Infantile epileptic dyskinetic encephalopathy
Other Variants in ITPA