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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
Yoon-Bellen neurodevelopmental syndrome
Summary
- Synonym
-
- YOBELN
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070468
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011170 | Generalized myoclonic-atonic seizure |
