infantile liver failure syndrome

Summary
Definition
A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.
Super Class
liver disease syndrome
Disease Ontology
DOID:0080716
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
51594 NBAS NBAS subunit of NRZ tethering complex
60561 RINT1 RAD50 interactor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024