RS982113263 PNKP

Health Risk Chr 19:49863987
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Associated Conditions
Developmental and epileptic encephalopathy
12
Ataxia - oculomotor apraxia type 4
Charcot-Marie-Tooth disease type 2B2
Microcephaly
seizures
and developmental delay
PNKP-related disorder
Developmental and epileptic encephalopathy
12
Ataxia - oculomotor apraxia type 4
Charcot-Marie-Tooth disease type 2B2
Microcephaly
seizures
and developmental delay
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant