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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