Yoon-Bellen Neurodevelopmental Syndrome
Disease ID: disease_node_20313
Connections displayed (default: 10).
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| Dbxref | MIM:619701 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | YOBELN |
| Doid Label | Yoon-Bellen neurodevelopmental syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20313 |
| Doid Id | DOID_0070468 |
| Label | Yoon-Bellen Neurodevelopmental Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)