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General Information
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| Term |
autosomal recessive spinocerebellar ataxia 14 |
ID (Ontology) |
DOID:0080058 (Human Disease) |
| Definition |
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. |
| Also Known As |
"SCAR14" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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autosomal recessive spinocerebellar ataxia 14 | 2 | 1 | for disease ribbon | autosomal recessive spinocerebellar ataxia 14 | 1 | -- | model of | autosomal recessive spinocerebellar ataxia 14 | 1 | -- |
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Relationships