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i5007146(T;T)

From SNPedia
DBP deficiency
is agenotype
ofI5007146
mentionedby
Magnitude7
ReputeBad
Geno Mag Summary
(A;A) 0 normal
(A;T) 4 Carrier of DBP deficiency
(T;T) 7 DBP deficiency

characterized by low muscle tone and seizures, most individuals born with this disorder do not live past the age of two years.