Kearns-Sayre syndrome

Orpha code: 480OMIM code: 530000

Definicja

A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Disease data
Klasyfikacja

Disease

Kod ORPHA
480
Kod OMIM
530000
Kod ICD10
H49.8
Kod ICD11
9C82.0

No additional description.

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