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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620089
http://purl.bioontology.org/ontology/OMIM/620089
|
|---|---|
| Preferred Name | NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION |
| Synonyms |
CONDMIM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CONDMIM
|
|---|---|
| prefLabel | NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
|
| Gene Symbol |
LETM1
CONDMIM
|
| Scope Statement | Caused by mutation in the leucine zipper/EF-hand-containing transmembrane protein 1 gene (LETM1, 604407.0001) [MOLECULAR BASIS]
Progressive disorder, may be rapid or slow [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Onset in infancy or first years of life [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p16.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620089
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774240
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |