ORPHA:90322
Cockayne syndrome type 2
Also called Cockayne syndrome type II
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:90322 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Intellectual disability
- Intrauterine growth retardation
- Abnormal facial shape
- Patchy demyelination of subcortical white matter
- Subcortical white matter calcifications
- Neurodevelopmental delay