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ENMegalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP)
Alias:
Megalencephaly-Capillary Malformation Syndrome
Mcmtc
Mcap
Mcm
Macrocephaly-Capillary Malformation Syndrome
Macrocephaly-Capillary Malformation
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic
Megalencephaly-Cutis Marmorata Telangiectatica Congenita Syndrome
Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome
Megalencephaly-Cutis Marmorata Telangiectatica Congenita
Megalencephaly Cutis Marmorata Telangiectatica Congenita
Macrocephaly-Cutis Marmorata Telangiectatica Congenita
Macrocephaly Cutis Marmorata Telangiectatica Congenita
M-Cm
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Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, also known as megalencephaly-capillary malformation syndrome, is related to megalencephaly and hemimegalencephaly, and has symptoms including seizures An important gene associated with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Signal Transduction and PIP3 activates AKT signaling. Affiliated tissues include skin and brain, and related phenotypes are macrocephaly and arteriovenous malformation
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MALACARDS
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