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Human Disease
Yoon-Bellen neurodevelopmental syndrome
- Term ID
- DOID:0070468
- Synonyms
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- YOBELN
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070468 )
- is a type of
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