Yoon-Bellen neurodevelopmental syndrome

Term ID

DOID:0070468

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. (2)

References

• MIM:619701

Ontology

Human Disease   ( DOID:0070468 )