ORPHA:1659
Dermatoleukodystrophy
Also called Cutis laxa-leukodystrophy
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:1659 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Hyperkeratosis
- Thickened skin
- Intellectual disability
- Abnormal nervous system morphology
- Reduced tendon reflexes
- Hyperreflexia