Cochleosaccular degeneration-cataract syndrome

Orpha code: 3233OMIM code: 120040

Definition

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
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl