has material basis in germline mutation in disease has feature PIK3CA megalencephaly-capillary malformation-polymicrogyria syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5210 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/megalencephaly_capillary_malformation_polymicrogyria_syndrome MEDGEN:355421 NANDO:2200823 MESH:C536142 MCAP ICD9:759.89 Megalencephaly-Capillary Malformation megalencephaly-capillary malformation syndrome M-CMTC M-CM megalocephaly cutis marmorata telangiectatica congenita MCM megalencephaly-cutis marmorata telangiectatica congenita syndrome UMLS:C1865285 macrocephaly cutis marmorata telangiectatica congenita OMIM:602501 macrocephaly-cutis marmorata telangiectatica congenita syndrome Orphanet:60040 A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. macrocephaly-capillary malformation syndrome megalencephaly cutis marmorata telangiectatica congenita megalencephaly-capillary malformation-polymicrogyria syndrome, somatic MCMTC GARD:0006950 NORD:1423 megalencephaly-capillary malformation-polymicrogyria syndrome SCTID:703370002 MONDO:0011240 capillary malformation obsolete obsolete rare capillary malformation with associated anomalies skin vascular disease overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes hereditary neurological disease PIK3CA-related overgrowth spectrum