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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001385 | Hip dysplasia |
| HP:0000365 | Hearing impairment |
| HP:0002133 | Status epilepticus |
| HP:0012469 | Infantile spasms |
| HP:0001508 | Failure to thrive |
| HP:0000505 | Visual impairment |
| HP:0002540 | Inability to walk |
| HP:0000252 | Microcephaly |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0003621 | Juvenile onset |
