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microcephaly-capillary malformation syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects.
Mondo Term and Equivalent IDs
MONDO:0013659:  microcephaly-capillary malformation syndrome
Orphanet:294016: 
SCTID:703369003: 
UMLS:C3280296: