Lichtenstein-Knorr syndrome
Lichtenstein-Knorr syndrome
Definition
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 autosomal recessive spinocerebellar ataxia type 19, Lichtenstein-Knorr syndrome, LIKNS, progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, SCAR19, SLC9A1-related spinocerebellar ataxia syndrome, spinocerebellar ataxia, autosomal recessive 19 — per MONDO