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Entry Name Description Category Pathway Gene
H02437 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) is a prenatal onset syndrome caused by bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS). Congenital malformation IARS1 [HSA:3376] [KO:K01870]
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