Version: 8.0.0
Date: Tue Jan 28 2025
Yoon-Bellen neurodevelopmental syndrome
DOID:0070468
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Yoon-Bellen neurodevelopmental syndrome

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.
Synonyms
  • YOBELN
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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