Yoon-Bellen neurodevelopmental syndrome (DOID:0070468)
Alliance: disease page
Synonyms: YOBELN
Alt IDs: OMIM:619701
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.