Term Name: Yoon-Bellen neurodevelopmental syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome