Cockayne syndrome
MONDO:0016006Mondo
Findings
No curated finding names Cockayne syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0016006), read 2026-09-29. CC BY 4.0.
Features
118 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 retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- Very frequent (80% to 99% of cases)
- Cerebral dysmyelinationHPOHP:0007266
- Very frequent (80% to 99% of cases)
- Growth delayHPO · MondoHP:0001510
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Progressive microcephalyHPOHP:0000253
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
Show the remaining 106
- Abnormal eye morphologyHPOHP:0012372
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Basal ganglia calcificationHPOHP:0002135
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cerebellar dentate nucleus calcificationHPOHP:0002461
- Frequent (30% to 79% of cases)