RS587776934 PIK3R2
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What This Variant Does
"CLNSIG=255
Associated Conditions
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Inborn genetic diseases
Megalencephaly-capillary malformation-polymicrogyria syndrome
Intellectual disability
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Seizure
PIK3R2-related disorder
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Inborn genetic diseases
Megalencephaly-capillary malformation-polymicrogyria syndrome
Intellectual disability
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Seizure
PIK3R2-related disorder
Other Variants in PIK3R2