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Entry Name Description Category Pathway Gene
H01872 Microcephaly-capillary malformation syndrome ... and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome. Congenital malformation STAMBP [HSA:10617] [KO:K11866]
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