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General Information
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| Term |
hypotonia, ataxia, and delayed development syndrome |
ID (Ontology) |
DOID:0081176 (Human Disease) |
| Definition |
A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. |
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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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| Alleles | Genes | Human Disease Models |
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hypotonia, ataxia, and delayed development syndrome | 2 | 2 | 1 | for disease ribbon | hypotonia, ataxia, and delayed development syndrome | -- | 1 | -- | model of | hypotonia, ataxia, and delayed development syndrome | 2 | 1 | -- |
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Relationships