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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/618234
http://purl.bioontology.org/ontology/OMIM/618234
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Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 |
Synonyms |
MC1DN11
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel | MC1DN11
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prefLabel | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
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Gene Symbol |
MC1DN11
NDUFAF1
CIA30
CGI65
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notation | 618234
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Scope Statement | Patient A was alive at 20 years of age [MISCELLANEOUS]
Symptoms may worsen with concurrent infection [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Two unrelated patients have been reported (last curated January 2019) [MISCELLANEOUS]
Caused by mutation in the NADH-ubiquinone oxidoreductase complex assembly factor 1 gene (NDUFAF1, 606934.0001) [MOLECULAR BASIS]
Patient B died in early infancy [MISCELLANEOUS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 15q13.3
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tui | T047
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cui | C4748769
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