Х-зчеплений синдром дисфункції колбочок при короткозорості
ORPHA:90001· ICD-10 H53.8· X-linked cone dysfunction syndrome with myopia
Визначення(English summary)
X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Childhood