acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Findings
No curated finding names acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
Definition from the Mondo Disease Ontology (MONDO:0014744), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
35 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.
- Cerebellar vermis atrophyHPOHP:0006855
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- 3 of 3 reported patients
- Gait ataxiaHPOHP:0002066
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hepatic bridging fibrosisHPOHP:0012852
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 3 of 3 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 3 reported patients
Show the remaining 23
- HyporeflexiaHPOHP:0001265
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Acute hepatic failureHPOHP:0006554
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Dysmetric saccadesHPOHP:0000641
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
- Generalized limb muscle atrophyHPOHP:0009055
- Frequent (30% to 79% of cases)
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.
- SCYL1HGNC:14372
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2016
- Moderate · Ambry Genetics · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Also called
- autosomal recessive spinocerebellar ataxia type 21SCAR21spinocerebellar ataxia, autosomal recessive 21spinocerebellar ataxia, autosomal recessive type 21