Database of Pathogenic Variants
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Disease Detail
Disease Name
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
OMIM:615937
MedGen:CN207693
Associated Genes and Variants
AKT3
NM_005465.4:c.118G>A
NM_005465.4:c.686A>G
NM_005465.7:c.486T>G
NM_005465.7:c.487A>T