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Browse result for Yoon-Bellen neurodevelopmental syndrome

※ introduction

    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.

Reference
DiseaseOntology: Yoon-Bellen neurodevelopmental syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14372Q9ULD055753
OGDHL
2-oxoglutarate dehydrogenase-like, mitochondrial
Homo sapiens