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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617054
http://purl.bioontology.org/ontology/OMIM/617054
|
|---|---|
| Preferred Name | STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET |
| Synonyms |
SNDC
LENK-PLOSKI SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SNDC
LENK-PLOSKI SYNDROME
|
|---|---|
| prefLabel | STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
|
| Gene Symbol |
TAX1BP2
SNDC
VAC14
TRX
|
| Scope Statement | Two unrelated boys have been reported (last curated July 2016) [MISCELLANEOUS]
Onset in early childhood [MISCELLANEOUS]
Abrupt onset [MISCELLANEOUS]
Caused by mutation in the VAC14 component of PIKFYVE complex gene (VAC14, 604632.0001) [MOLECULAR BASIS]
Symptoms exacerbated during infection or after anesthesia [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617054
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310743
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |