RS398123695 STXBP1
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Associated Conditions
Developmental and epileptic encephalopathy
4
West syndrome
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
STXBP1-related neurodevelopmental disorder
Early-infantile DEE
Developmental and epileptic encephalopathy
4
West syndrome
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
STXBP1-related neurodevelopmental disorder
Early-infantile DEE
Other Variants in STXBP1