RS1589296004 SPTAN1

Health Risk Chr 9:128605095
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Associated Conditions
Developmental and epileptic encephalopathy
5
Spastic paraplegia 91
autosomal dominant
with or without cerebellar ataxia
Developmental delay with or without epilepsy
Neuronopathy
distal hereditary motor
autosomal dominant 11
Early-infantile DEE
Developmental and epileptic encephalopathy
5
Spastic paraplegia 91
autosomal dominant
with or without cerebellar ataxia
Other Variants in SPTAN1
rs398122865 rs377437879 rs138101005 rs41275900 rs147132904 rs72758823 rs187613754 rs202180736 rs587784431 rs370304886
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