renal tubulopathy-encephalopathy-liver failure syndrome
MONDO:0016811Mondo
Findings
No curated finding names renal tubulopathy-encephalopathy-liver failure syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.
Definition from the Mondo Disease Ontology (MONDO:0016811), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCS1LHGNC:1020
- Supportive · Orphanet · Autosomal recessive · 2021