Lichtenstein-Knorr syndrome

An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss.

Also known as: LIKNS, Lichtenstein-Knorr syndrome, SCAR19, SLC9A1-related spinocerebellar ataxia syndrome, autosomal recessive spinocerebellar ataxia type 19, progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, spinocerebellar ataxia, autosomal recessive 19

18 clinical trials for this condition and its sub-types, 0 tagged with Lichtenstein-Knorr syndrome itself.