neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
MONDO:0030028Mondo
Findings
No curated finding names neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Optic atrophyHPOHP:0000648
- 4 of 4 reported patients
- Urinary incontinenceHPOHP:0000020
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 4 of 5 reported patients
- DysphagiaHPOHP:0002015
- 4 of 5 reported patients
- Mental deteriorationHPOHP:0001268
- 4 of 5 reported patients
- Progressive cerebellar ataxiaHPOHP:0002073
- 4 of 5 reported patients
- Slow saccadic eye movementsHPOHP:0000514
- 4 of 5 reported patients
- Bowel incontinenceHPOHP:0002607
- 2 of 3 reported patients
- Babinski signHPOHP:0003487
- 3 of 5 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 5 reported patients
- StrabismusHPOHP:0000486
- 3 of 5 reported patients
- ClonusHPOHP:0002169
- 2 of 5 reported patients
Show the remaining 7
- Delayed speech and language developmentHPOHP:0000750
- 2 of 5 reported patients
- DystoniaHPOHP:0001332
- 2 of 5 reported patients
- Globus pallidus hypointensity on susceptibility-weighted imagingHPOHP:0033049
- 2 of 5 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 2 of 5 reported patients · Neonatal onset
- Substantia nigra hypointensity on susceptibility-weighted imagingHPOHP:0033048
- 2 of 5 reported patients
- EEG abnormalityHPOHP:0002353
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.
- SLC44A1HGNC:18798
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
- Also called
- CONATOC