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.
MONDO:0015244
autosomal recessive cerebellar ataxia
is_a
LIKNS
exact
Lichtenstein-Knorr syndrome
exact
SCAR19
exact
SLC9A1-related spinocerebellar ataxia syndrome
exact
autosomal recessive spinocerebellar ataxia type 19
exact
progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
exact
spinocerebellar ataxia, autosomal recessive 19
exact