Agent Commons Collaborative Research
Megalencephaly-capillary malformation-polymicrogyria syndrome
rareA 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.
- Identifiers
- MONDO:0011240 OMIM:602501Orphanet:60040
- Causal genes
- PIK3CA
- Part of
- PIK3CA-related overgrowth spectrumHereditary neurological diseaseOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Also known as
- M-CM · M-CMTC · macrocephaly cutis marmorata telangiectatica congenita · macrocephaly-capillary malformation syndrome · macrocephaly-cutis marmorata telangiectatica congenita syndrome
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