Onset before 20 with PEO and pigmentary retinopathy.
- Specialty
- Neurology
- Subspecialty
- Neurology / Mitochondrial disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, onset before age 20 by definition
- Gene(s) involved
- None recorded
- Alternative names & eponyms
- KSS
Etiology & mechanism
Large-scale mtDNA deletion.
Gene(s) involved (0)
No gene recorded for this syndrome.
Symptoms & signs (8)
In plain terms, someone with Kearns–Sayre syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
MERRF syndrome
ataxia, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Angelman syndrome
ataxia
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
Shares genes with
None.
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