Lichtenstein-Knorr syndrome
Findings
No curated finding names Lichtenstein-Knorr syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014572), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Areflexia of lower limbsHPOHP:0002522
- 3 of 3 reported patients
- Areflexia of upper limbsHPOHP:0012046
- 3 of 3 reported patients
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- DysdiadochokinesisHPOHP:0002075
- 3 of 3 reported patients
- DysmetriaHPOHP:0001310
- 3 of 3 reported patients
- Gait ataxiaHPOHP:0002066
Show the remaining 1
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC9A1HGNC:11071
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
6 names
Resolves to: Lichtenstein-Knorr syndrome
- Also called
- autosomal recessive spinocerebellar ataxia type 19LIKNSprogressive autosomal recessive ataxia-sensorineural hearing loss syndromeSCAR19SLC9A1-related spinocerebellar ataxia syndromespinocerebellar ataxia, autosomal recessive 19