Metafyzární chondrodysplázie s retinitis pigmentosa
ORPHA:166035· ICD-10 Q87.8· Brachydactyly-short stature-retinitis pigmentosa syndrome
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Childhood, Infancy
ORPHA:166035· ICD-10 Q87.8· Brachydactyly-short stature-retinitis pigmentosa syndrome