Ehlers-Danlosův syndrom, forma kyfoskoliotická s hluchotou
ORPHA:300179· ICD-10 Q79.6· Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:300179· ICD-10 Q79.6· Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency