Disease association ontology term - MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Term summary
- ID
- MONDO:0014744
- Name
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
