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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618087
http://purl.bioontology.org/ontology/OMIM/618087
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS |
| Synonyms |
SCA42ND
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCA42ND
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
|
| Gene Symbol |
SCA42ND
SCA42
CACNA1G
|
| Scope Statement | Four unrelated girls have been reported (last curated August 2018) [MISCELLANEOUS]
Onset soon after birth or in early infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the calcium channel, voltage-dependent, T type, alpha-1G subunit gene (CACNA1G, 604065.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618087
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748120
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |