Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Preferred Label : Growth retardation, impaired intellectual development, hypotonia, and hepatopathy;

Symbol : GRIDHH;

CISMeF acronym : GRIDHH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isoleucyl-tRNA synthetase gene (IARS, 600709.0001);

Laboratory abnormalities : Mitochondrial complex I deficiency in some tissues; Zinc deficiency; Abnormal liver enzymes (in some patients);

Prefixed ID : #617093;

Details

Origin ID

617093;

UMLS CUI

C4310720;

Genes related to phenotype
- Isoleucyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Decreased liver function [HPO term]
- Duplicated collecting system [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hydronephrosis [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Microcephaly [HPO term]
- Postnatal growth retardation [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Growth delay-intellectual disability-hepatopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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