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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618234
http://purl.bioontology.org/ontology/OMIM/618234
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 |
| Synonyms |
MC1DN11
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MC1DN11
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
|
| Gene Symbol |
MC1DN11
NDUFAF1
CIA30
CGI65
|
| 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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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618234
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748769
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |