Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Definition:

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).

References:

[1]. N Orenstein, et al. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clin Genet. 2017 Jun;91(6):913-917. [Content Brief]

[2]. Robert Kopajtich, et al. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet. 2016 Aug 4;99(2):414-22. [Content Brief]

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