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Prevalence (%) of clinical parameters based on data from 2 references describing 7 individuals
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Mental retardation |
nervous |
100 % |
16957900 |
2011-10-27 |
|
Failure to thrive |
multi |
100 % |
16957900 |
2011-10-27 |
|
Hypotonia |
nervous |
100 % |
16957900 |
2011-10-27 |
|
Lactate accumulation |
circulatory |
100 % |
20142534 |
2011-10-18 |
|
Seizures |
nervous |
100 % |
20142534 |
2011-10-05 |
|
Hepatopathy |
digestive |
100 % |
16957900 |
2011-10-27 |
|
Developmental delay |
multi |
100 % |
20142534 |
2011-10-11 |
|
Hepatopathy |
digestive |
100 % |
20142534 |
2011-10-12 |
|
Gastrointestinal dysmotility |
digestive |
75 % |
20142534 |
2011-10-10 |
|
Hypotonia |
nervous |
50 % |
20142534 |
2011-10-12 |
|
Cerebral atrophy |
nervous |
33 % |
16957900 |
2011-10-27 |
|
Short stature |
skeletal |
25 % |
20142534 |
2011-10-05 |
|
Cholestasis |
digestive |
25 % |
20142534 |
2011-10-05 |
|
Gastric ulcers |
digestive |
25 % |
20142534 |
2011-10-05 |
|
Optic atrophy |
nervous |
25 % |
20142534 |
2011-10-05 |
|
Ptosis |
nervous |
25 % |
20142534 |
2011-10-12 |
|
Hearing loss |
nervous |
25 % |
20142534 |
2011-10-12 |
|
Mental retardation |
nervous |
25 % |
20142534 |
2011-10-12 |
|
List of references:
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Maaike C de Vries, Richard J Rodenburg, Eva Morava, Edwin P M van Kaauwen, Henk ter Laak, Reinier A Mullaart, Irina N Snoeck, Peter M van Hasselt, Peter Harding, Lambert P W van den Heuvel, Jan A M Smeitink,
European journal of pediatrics - Mar 2007
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Bulent Kurt, Jaak Jaeken, Johan Van Hove, Lieven Lagae, Ann Löfgren, David B Everman, Parul Jayakar, Ali Naini, Klaas J Wierenga, Gert Van Goethem, William C Copeland, Salvatore DiMauro,
Archives of neurology - Feb 2010
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