ORPHA:2850
Alopecia-intellectual disability syndrome
Also called Perniola-Krajewska-Carnevale syndrome
- 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:2850 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Hearing impairment
- Intellectual disability
- Hypotonia
- Alopecia
- Sparse scalp hair