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General Information
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| Term |
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay |
ID (Ontology) |
DOID:0070339 (Human Disease) |
| Definition |
A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. |
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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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cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | 2 | 1 | 1 | for disease ribbon | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | -- | 1 | -- | model of | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | 2 | 1 | -- |
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Relationships