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Metadata
ID	DOID:0070468
Name	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. https://pubmed.ncbi.nlm.nih.gov/28017472/, https://pubmed.ncbi.nlm.nih.gov/34800363/
Xrefs	MIM:619701
SKOS	exactMatch MIM:619701
Synonyms	YOBELN [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance