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megalencephaly-capillary malformation-polymicrogyria syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is 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.
Uniprot Description A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria.
Mondo Term and Equivalent IDs
MONDO:0011240:  megalencephaly-capillary malformation-polymicrogyria syndrome
GARD:0006950: 
MESH:C536142: 
Orphanet:60040: 
SCTID:703370002: 
UMLS:C1865285: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found