has material basis in germline mutation in SCYL1 syndromic disease acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6743 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_21 MONDO:0014744 DOID:0111155 GARD:0017833 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) UMLS:C5569084 SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Orphanet:466794 spinocerebellar ataxia, autosomal recessive 21 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. autosomal recessive spinocerebellar ataxia type 21 OMIM:616719 spinocerebellar ataxia, autosomal recessive type 21 MEDGEN:1800507 autosomal recessive syndromic cerebellar ataxia acute disease