Cockayne syndrome type 3
Findings
No curated finding names Cockayne syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.
Definition from the Mondo Disease Ontology (MONDO:0008998), read 2026-09-29. CC BY 4.0.
Features
74 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 myelinationHPOHP:0012447
- Very frequent (80% to 99% of cases)
- AstrocytosisHPOHP:0002446
- Very frequent (80% to 99% of cases)
- Basal ganglia calcificationHPOHP:0002135
- Very frequent (80% to 99% of cases)
- Cerebellar dentate nucleus calcificationHPOHP:0002461
- Very frequent (80% to 99% of cases)
- Subcortical white matter calcificationsHPOHP:0007346
- Very frequent (80% to 99% of cases)
- Abnormality of peripheral nerve conductionHPOHP:0003134
- Frequent (30% to 79% of cases)
Show the remaining 62
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Neurogenic bladderHPOHP:0000011
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Cockayne syndrome type 3
- Also called
- Cockayne syndrome type III