Database of Pathogenic Variants
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Disease Detail
Disease Name
Megalencephaly-capillary malformation-polymicrogyria syndrome
OMIM:602501
Orphanet:60040
MedGen:C1865285
Associated Genes and Variants
PIK3CA
NM_006218.2:c.3139C>T
PIK3R2
NM_005027.3:c.1117G>A