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Entry Name Description Category Pathway Gene
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]
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