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Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome (MONDO:0014744)

An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

MONDO:0014744

Internal:15736

Synonyms

SCAR21

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

autosomal recessive spinocerebellar ataxia type 21

spinocerebellar ataxia, autosomal recessive 21

spinocerebellar ataxia, autosomal recessive type 21

autosomal recessive spinocerebellar ataxia 21

spinocerebellar ataxia, autosomal recessive 21, with hepatopathy

Mapped terms

DOID:0111155

GARD:0017833

MEDGEN:1800507

OMIM:616719

Orphanet:466794

UMLS:C5569084

Child terms

Unknown children.

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