RS796053366 STXBP1

Health Risk Chr 9:127673250
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What This Variant Does
"CLNSIG=5
Associated Conditions
Epileptic encephalopathy
Developmental and epileptic encephalopathy
4
Intellectual disability
Infantile epilepsy syndrome
Cerebellar ataxia
Tremor
Moderate global developmental delay
Early-infantile DEE
Epileptic encephalopathy
Developmental and epileptic encephalopathy
4
Intellectual disability
Infantile epilepsy syndrome
Cerebellar ataxia
Other Variants in STXBP1
rs121918317 rs121918318 rs121918319 rs121918320 rs121918321 rs587776641 rs398123695 rs587777310 rs201809337 rs147607230
Ask Dr. Hemsworth about this variant