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Entry | Name | Description | Category | Pathway | Gene |
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H02733 | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | ... distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ZPR1 encodes a regulatory protein involved in cell proliferation ... | Congenital malformation | ZPR1 [HSA:8882] [KO:K06874] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |