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.

This is just here as a test because I lose it

Term information

database cross reference
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MedDRA:10048804
OMIM:530000
MeSH:D007625
ICD-10:H49.8
UMLS:C0022541

notation

ORPHA:480

Term relations

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