RS587782994 PURA

Health Risk Chr 5:140114470
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What This Variant Does
"CLNSIG=5
Associated Conditions
Global developmental delay
Neonatal hypotonia
Intellectual disability
Delayed speech and language development
Seizure
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Global developmental delay
Neonatal hypotonia
Intellectual disability
Delayed speech and language development
Seizure
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Other Variants in PURA
rs587782991 rs587782992 rs587782993 rs587782995 rs587782996 rs587782997 rs587782998 rs587782999 rs587783000 rs587783001
Ask Dr. Hemsworth about this variant