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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |