loading...| Preferred Name | Mitochondrial complex I deficiency | |
| Synonyms |
MT-C1D |
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| Definitions |
(MT-C1D) - A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. |
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| ID |
http://identifiers.org/omim/252010 |
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| altLabel |
MT-C1D |
|
| definition |
(MT-C1D) - A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. |
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| id |
OMIM:252010 |
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| notation |
OMIM:252010 |
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| prefLabel |
Mitochondrial complex I deficiency |
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| subClassOf |