ORPHA:163668
Spondyloepiphyseal dysplasia, MacDermot type
Also called Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome, Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:163668 is classified under "Bone diseases" in the Orphanet nomenclature.