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DO Term : Yoon-Bellen neurodevelopmental syndrome [DOID:0070468] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:619701,
  • 619701,
  • YOBELN
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents