RS587784365 PNKP
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What This Variant Does
"CLNSIG=5
Associated Conditions
Microcephaly
seizures
and developmental delay
Ataxia - oculomotor apraxia type 4
Developmental and epileptic encephalopathy
12
Intellectual disability
Abnormality of the nervous system
Inborn genetic diseases
Seizure
Microcephaly
seizures
and developmental delay
Ataxia - oculomotor apraxia type 4
Developmental and epileptic encephalopathy
Other Variants in PNKP