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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614409
http://purl.bioontology.org/ontology/OMIM/614409
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE |
| Synonyms |
SPG46
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPG46
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
|
| Gene Symbol |
SPG46
KIAA1605
GBA2
|
| Scope Statement | Caused by mutation in the beta acid glucosidase 2 gene (GBA2, 609471.0001) [MOLECULAR BASIS]
Some patients present with spasticity, whereas others present with cerebellar ataxia [MISCELLANEOUS]
Onset in childhood (range 2 to 16 years) [MISCELLANEOUS]
Some patients may have normal brain imaging [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614409
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2828721
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |