French Canadian Leigh syndrome
LSFC

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Prevalence (%) of clinical parameters based on data from 2 references describing 65 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 21266382 2014-07-28
Hypotonia nervous 100 % 21266382 2014-07-28
Brain stem pathology nervous 100 % 8392291 2014-07-28
Basal ganglia pathology nervous 100 % 8392291 2014-07-28
Steatosis digestive 93 % 8392291 2014-07-28
Midfacial hypoplasia skeletal 90 % 21266382 2014-07-28
Bossed forehead skeletal 88 % 21266382 2014-07-28
Broad nasal bridge skeletal 87 % 21266382 2014-07-28
Lactate accumulation circulatory 76 % 21266382 2014-07-28
Arched eyebrows integumentary 58 % 21266382 2014-07-28
Hypertelorism skeletal 56 % 21266382 2014-07-28
Hirsutism integumentary 54 % 21266382 2014-07-28
Tremor nervous 54 % 21266382 2014-07-28
Failure to thrive multi 52 % 21266382 2014-07-28
Ataxia nervous 48 % 21266382 2014-07-28
Strabismus nervous 35 % 21266382 2014-07-28
Synophrys integumentary 26 % 21266382 2014-07-28
Seizures nervous 18 % 21266382 2014-07-28
Basal ganglia pathology nervous 16 % 21266382 2014-07-28
Brain stem pathology nervous 16 % 21266382 2014-07-28
Stroke nervous 8 % 21266382 2014-07-28



List of references:


LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
François-Guillaume Debray, Charles Morin, Annie Janvier, Josée Villeneuve, Bruno Maranda, Rachel Laframboise, Jacques Lacroix, Jean-Claude Decarie, Yves Robitaille, Marie Lambert, Brian H Robinson, Grant A Mitchell,



Journal of medical genetics - Mar 2011



Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.
C Morin, G Mitchell, J Larochelle, M Lambert, H Ogier, B H Robinson, M De Braekeleer,



American journal of human genetics - Aug 1993