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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621226
http://purl.bioontology.org/ontology/OMIM/621226
|
|---|---|
| Preferred Name | SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT |
| Synonyms |
SPAX11
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPAX11
|
|---|---|
| prefLabel | SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT
|
| Gene Symbol |
TUBA1
FTDALS9
TUBA4A
CMYO26
SPAX11
OZEMA23
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| Scope Statement | Late-adult onset has been reported [MISCELLANEOUS]
Variably severity [MISCELLANEOUS]
Some patients have a de novo mutation [MISCELLANEOUS]
Variable age at onset, usually in the first 2 decades [MISCELLANEOUS]
Progressive disorder (mild to moderate) [MISCELLANEOUS]
Caused by mutation in the tubulin, alpha-4A gene (TUBA4A, 191110.0011) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621226
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012733
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |