Subsarcolemmal accumulations of abnormally shaped mitochondria
Symptom Information:
Symptom ID: | HPO:0003548 | ||
Synonyms: |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Muscle abnormality related to mitochondrial dysfunction(HPO:0003800) Subsarcolemmal accumulations of abnormally shaped mitochondria(HPO:0003548) MedDRA: |
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Database Frequency: | 9 / 7739 | ||
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All diseases associated with this symptom:
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | (Orphanet:43115) |
Leigh syndrome with leukodystrophy | (Orphanet:255241) |
Leigh syndrome with nephrotic syndrome | (Orphanet:255249) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 | (OMIM:609283) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |