Cochleosaccular degeneration-cataract syndrome

Orpha code: 3233OMIM code: 120040

Definicja

Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
3233
Kod OMIM
120040
Kod ICD10
H83.8
Kod ICD11
LD2H.Y

No additional description.

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