| Disease ID | Source | Name | Description |
| 601536 | OMIM | Athabaskan brainstem dysgenesis syndrome (ABDS) | Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. The disease is caused by variants affecting the gene represented in this entry. |
| 601536 | OMIM | Athabaskan brainstem dysgenesis syndrome (ABDS) | Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. The disease is caused by variants affecting the gene represented in this entry. |