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General Information
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| Term |
Yoon-Bellen neurodevelopmental syndrome |
ID (Ontology) |
DOID:0070468 (Human Disease) |
| Definition |
A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. |
| Also Known As |
"YOBELN" |
| 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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 12 | | 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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Yoon-Bellen neurodevelopmental syndrome | 12 | 1 | 1 | ameliorates | Yoon-Bellen neurodevelopmental syndrome | 6 | -- | -- | model of | Yoon-Bellen neurodevelopmental syndrome | 11 | -- | -- |
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Relationships