| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. (Human Phenotype Ontology, HP_0006955) |
| External Link | http://www.ncbi.nlm.nih.gov/medgen/?term=C1859341 |
| Similar Terms | |
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1 genes associated with the Olivopontocerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| TSEN54 | TSEN54 tRNA splicing endonuclease subunit |