has material basis in germline mutation in IARS1 syndromic disease autosomal recessive disease growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6743 https://www.malacards.org/card/growth_retardation_impaired_intellectual_development_hypotonia_and_hepatopathy Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy Orphanet:541423 A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. growth retardation, impaired intellectual development, hypotonia, and hepatopathy growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH UMLS:C4310720 MEDGEN:934687 MONDO:0014911 OMIM:617093 GARD:0017980 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)and from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) GRIDHH