mild Canavan disease
MONDO:0017831Mondo
Findings
No curated finding names mild Canavan disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
Definition from the Mondo Disease Ontology (MONDO:0017831), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Frequent (30% to 79% of cases)
- Mild global developmental delayHPOHP:0011342
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- Mild microcephalyHPOHP:0040196
- Occasional (5% to 29% of cases)
Show the remaining 4
- Poor head controlHPOHP:0002421
- Occasional (5% to 29% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Occasional (5% to 29% of cases)
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.
- ASPAHGNC:756
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: mild Canavan disease
- Also called
- juvenile Canavan disease