has material basis in germline mutation in SPTBN2 autosomal recessive spinocerebellar ataxia 14 https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_14 UMLS:C4706415 GARD:0017516 Ataxie spinocérébelleuse à début infantile avec retard psychomoteur SCAR14 SCTID:763351003 spectrin-associated autosomal recessive cerebellar ataxia OMIM:615386 SPARCA1 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). spectrin-associated autosomal recessive cerebellar ataxia type 1 SPTBN2 autosomal recessive cerebellar ataxia Orphanet:352403 MEDGEN:1636182 MONDO:0014159 autosomal recessive cerebellar ataxia caused by mutation in SPTBN2 autosomal recessive spinocerebellar ataxia type 14 cerebellar ataxia, autosomal recessive, spectrin-associated, 1 DOID:0080058 autosomal recessive cerebellar ataxia-cognitive defect syndrome infantile-onset spinocerebellar ataxia-psychomotor delay syndrome spinocerebellar ataxia, autosomal recessive 14 spinocerebellar ataxia, autosomal recessive type 14 SPARCA autosomal recessive cerebellar ataxia