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GTR Home > Conditions/Phenotypes > Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Synonyms
GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

GRIDHH is an autosomal recessive multisystem disorder characterized by poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016). [from OMIM]

Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785, IARS1
    Summary: isoleucyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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