has material basis in germline mutation in disease has major feature SNX14 syndromic intellectual disability congenital nervous system disorder autosomal recessive spinocerebellar ataxia 20 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_20 SNX14 autosomal recessive cerebellar ataxia DOID:0080066 autosomal recessive spinocerebellar ataxia type 20 intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome OMIM:616354 autosomal recessive cerebellar ataxia caused by mutation in SNX14 GARD:0017636 UMLS:C5190595 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. Orphanet:397709 MEDGEN:1684324 spinocerebellar ataxia, autosomal recessive type 20 intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome spinocerebellar ataxia, autosomal recessive 20 SCAR20 MONDO:0014601 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal recessive cerebellar ataxia central nervous system malformation