Database of Pathogenic Variants
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Disease Detail
Disease Name
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
OMIM:603387
MedGen:C1863924
Associated Genes and Variants
AKT3
NM_181690.2:c.487A>T
PIK3R2
NM_005027.3:c.1117G>A
NM_005027.3:c.1126A>G