Disease ID | Source | Name | Description |
618512 | OMIM | O'Donnell-Luria-Rodan syndrome (ODLURO) | A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities. The disease is caused by variants affecting the gene represented in this entry. |