Search Result |
Top |
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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |