| Dataset | GAD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_0050777) |
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2 genes associated with the disease joubert syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
