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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301020
http://purl.bioontology.org/ontology/OMIM/301020
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 |
| Synonyms |
MC1DN12
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MC1DN12
|
|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
|
| Gene Symbol |
NDUFA1
MWFE
MC1DN12
|
| Scope Statement | Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A gene (NDUFA1, 300078.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Onset in the first year of life [MISCELLANEOUS]
Death in early childhood may occur [MISCELLANEOUS]
Two unrelated families have been reported (last curated January 2019) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301020
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4746984
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |