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acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy.
Mondo Term and Equivalent IDs
MONDO:0014744:  acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Orphanet:466794: 
UMLS:C4225236: