RS587782993 PURA

Health Risk Chr 5:140114737
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=5
Associated Conditions
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Delayed speech and language development
Seizure
Intellectual disability
Neonatal hypotonia
Global developmental delay
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Delayed speech and language development
Seizure
Intellectual disability
Neonatal hypotonia
Global developmental delay
Other Variants in PURA
rs587782991 rs587782992 rs587782994 rs587782995 rs587782996 rs587782997 rs587782998 rs587782999 rs587783000 rs587783001
Ask Dr. Hemsworth about this variant