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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
Reference
DiseaseOntology: Yoon-Bellen neurodevelopmental syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14372 | Q9ULD0 | 55753 | OGDHL | 2-oxoglutarate dehydrogenase-like, mitochondrial | Homo sapiens |
