RS587784366 PNKP

Health Risk Chr 19:49861766
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What This Variant Does
"CLNSIG=5
Associated Conditions
Microcephaly
seizures
and developmental delay
Ataxia
early-onset
with oculomotor apraxia and hypoalbuminemia
Developmental and epileptic encephalopathy
12
PNKP-related disorder
Microcephaly
seizures
and developmental delay
Ataxia
early-onset
with oculomotor apraxia and hypoalbuminemia
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant