RS794727970 STXBP1

Health Risk Chr 9:127666206
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What This Variant Does
"CLNSIG=4
Associated Conditions
Developmental and epileptic encephalopathy
4
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
Infantile epilepsy syndrome
Early-infantile DEE
Developmental and epileptic encephalopathy
4
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
Infantile epilepsy syndrome
Early-infantile DEE
Other Variants in STXBP1
rs121918317 rs121918318 rs121918319 rs121918320 rs121918321 rs587776641 rs398123695 rs587777310 rs201809337 rs147607230
Ask Dr. Hemsworth about this variant