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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:0001761 | Pes cavus |
| HP:0000639 | Nystagmus |
| HP:0002650 | Scoliosis |
| HP:0000338 | Hypomimic face |
| HP:0002119 | Ventriculomegaly |
| HP:0001263 | Global developmental delay |
| HP:0000218 | High palate |
| HP:0001488 | Bilateral ptosis |
| HP:0002521 | Hypsarrhythmia |
| HP:0000494 | Downslanted palpebral fissures |
