acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
ORPHA: 466794
Overview
autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, sourced from HPO and Orphanet clinical annotations.
Dysmetric saccadesSaccadic smooth pursuit interruptionsMild intellectual disabilityGlobal developmental delayHyporeflexiaHepatic fibrosisHepatosplenomegalyFeverGait ataxiaProgressive cerebellar ataxiaIntention tremorFrequent fallsParesthesiaSomatic sensory dysfunctionAcute hepatic failureCerebellar vermis atrophyDistal lower limb muscle weaknessGeneralized limb muscle atrophyPeripheral neuropathyStutteringOptic atrophySpasticityHyperreflexiaTalipes equinovarus
Classification & Codes
Orphanet Code
ORPHA:466794acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
| Orphanet | ORPHA:466794 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO