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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615471
http://purl.bioontology.org/ontology/OMIM/615471
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |
| Synonyms |
MTDPS13
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MTDPS13
|
|---|---|
| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
|
| Gene Symbol |
FBXL4
FBL4
MTDPS13
|
| Scope Statement | Caused by mutation in the F-box and leucine-rich repeat protein 4 gene (FBXL4, 605654.0001) [MOLECULAR BASIS]
Onset at birth or early infancy [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
May result in early death [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q16.1-q16.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615471
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809592
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |