RS550423482 PNPO

Health Risk Chr 17:47946670
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What This Variant Does
"CLNSIG=5
Associated Conditions
Pyridoxal phosphate-responsive seizures
Pyridoxal phosphate-responsive seizures
Seizure
Fetal growth restriction
Growth delay
Neuronopathy
distal hereditary motor
type 5A
Pyridoxal phosphate-responsive seizures
Pyridoxal phosphate-responsive seizures
Seizure
Fetal growth restriction
Growth delay
Neuronopathy
distal hereditary motor
Other Variants in PNPO
rs104894629 rs774710082 rs104894631 rs267606958 rs546737191 rs144362146 rs796052870 rs370243877 rs796052872 rs148597698
Ask Dr. Hemsworth about this variant