Overview
Cockayne syndrome type 3 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal myelination
Very frequent (80-99%)HP:0012447
Basal ganglion calcification
Very frequent (80-99%)HP:0002135
Cerebellar dentate nucleus calcification
Very frequent (80-99%)HP:0002461
Increase in astrocyte number
Very frequent (80-99%)HP:0002446
Subcortical white matter calcifications
Very frequent (80-99%)HP:0007346
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Absent tendon reflexes
Frequent (30-79%)HP:0001284
Adult onset sensorineural hearing impairment
Frequent (30-79%)HP:0008615
Brain degeneration
Frequent (30-79%)HP:0012444
Cerebral white matter atrophy
Frequent (30-79%)HP:0012762
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Demyelinating peripheral neuropathy
Frequent (30-79%)HP:0007108
Functional motor deficit
Frequent (30-79%)HP:0004302
Gait disturbance
Frequent (30-79%)HP:0001288
Increased reflexes
Frequent (30-79%)HP:0001347
Lack of bladder control due to nervous system injury
Frequent (30-79%)HP:0000011
Mental retardation, mild
Frequent (30-79%)HP:0001256
Muscle degeneration
Frequent (30-79%)HP:0003202
Neuropathy
Frequent (30-79%)HP:0009830
Peripheral axonal neuropathy
Frequent (30-79%)HP:0003477
Premature coronary artery atherosclerosis
Frequent (30-79%)HP:0005181
Terminal tremor
Frequent (30-79%)HP:0002080
Unsteady walk
Frequent (30-79%)HP:0002317
Vascular calcification
Frequent (30-79%)HP:0004934
Abnormal liver function tests
Occasional (5-29%)HP:0002910
Cataract
Occasional (5-29%)HP:0000518
Cognitive deficits
Occasional (5-29%)HP:0100543
Dental cavities
Occasional (5-29%)HP:0000670
Dry hair
Occasional (5-29%)HP:0011359
Enamel dysplasia
Occasional (5-29%)HP:0006297
Related Conditions
Quick Facts
- SNOMED CT
- 890432001
- UMLS CUI
- C0751037
- Fully Specified Name
- Cockayne syndrome type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.