Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

We report the case of an 11‐year‐old Syrian girl born to consanguineous parents, who presents an ataxic gait from early childhood. On clinical examination, she presented a severe static ‐ kinetic cerebellar syndrome, walking without support is possible for short distances only. Strikingly, three con...

Ausführliche Beschreibung