Оковухозубний синдром
ORPHA:99806· ICD-10 K07.8· Oculootodental syndrome
Визначення(English summary)
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy