Term Name: | Yoon-Bellen neurodevelopmental syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070468] ( DOID:0070468 ) |