Oculootodental syndrome

Orpha code: 99806OMIM code: 166750

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
OOD
OOD
Kod ORPHA
99806
Kod OMIM
166750
Kod ICD10
K07.8
Kod ICD11
-

No additional description.

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