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growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

MONDO:0014911

Also known as:GRIDHHgrowth retardation, impaired intellectual development, hypotonia, and hepatopathygrowth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH

Overview

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.

GeneticsAutosomal recessive · IARS1 (chr 9)

ResearchLimited published research (6 articles)

Clinical Presentation

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617093

Orphanet

European rare disease database

Orphanet:541423

GARD

Genetic and Rare Diseases Info Center

GARD:17980

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Features include always present findings: Elevated circulating alkaline phosphatase concentration, Hypoalbuminemia, Failure to thrive, and Hyperammonemia and others; and very common findings: Intellectual disability, Global developmental delay, Decreased serum zinc, and Intrauterine growth retardation and others. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	11	Hepatic steatosis, Decreased liver function, Liver scarring (fibrosis) (hepatic fibrosis)
Brain and nerves	8	Seizure, Intellectual disability, Absent speech
Lab test results	5	Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate aminotransferase concentration
Growth and development	4	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation
Head and neck	4	Round face, Secondary microcephaly, Primary microcephaly
Skin	2	Hyperextensible skin, Soft, doughy skin
Muscles	1	Low muscle tone (hypotonia)
Bones and joints	1	Joint hypermobility
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Hormones	1	Diabetes mellitus
Metabolism	1	Abnormality of vitamin D metabolism
Blood and immune system	1	Recurrent infections

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growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

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Clinical Presentation

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Questions for Your Care Team

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growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications