RS774995635 PNKP

Health Risk Chr 19:49861265
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Associated Conditions
Developmental and epileptic encephalopathy
12
Charcot-Marie-Tooth disease type 2B2
Abnormal cerebral morphology
Inborn genetic diseases
Microcephaly
seizures
and developmental delay
Developmental and epileptic encephalopathy
12
Charcot-Marie-Tooth disease type 2B2
Abnormal cerebral morphology
Inborn genetic diseases
Microcephaly
seizures
Other Variants in PNKP
rs267606956 rs587784365 rs267606957 rs374745816 rs200611702 rs376854895 rs116192442 rs148491228 rs201503405 rs144284975
Ask Dr. Hemsworth about this variant