infantile liver failure syndrome 3
MONDO:0032844Mondo
Findings
No curated finding names infantile liver failure syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the epiphysis of the femoral headHPOHP:0010574
- 3 of 3 reported patients
- Beaking of vertebral bodiesHPOHP:0004568
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Hypoplastic vertebral bodiesHPOHP:0008479
- 3 of 3 reported patients
- Prolonged prothrombin timeHPOHP:0008151
- 3 of 3 reported patients
- Abnormal acetabulum morphologyHPOHP:0003170
- 2 of 3 reported patients
- Hepatic steatosisHPOHP:0001397
- 2 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- Hepatic bridging fibrosisHPOHP:0012852
- 1 of 3 reported patients
- PlatyspondylyHPOHP:0000926
- 1 of 3 reported patients
- Talipes equinovarusHPOHP:0001762
- 1 of 3 reported patients · Congenital onset
- Acute hepatic failureHPOHP:0006554
- Infantile onset
Show the remaining 6
- CholestasisHPOHP:0001396
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Hepatic encephalopathyHPOHP:0002480
- HyperammonemiaHPOHP:0001987
- JaundiceHPOHP:0000952
- Short statureHPOHP:0004322
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.
- RINT1HGNC:21876
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of