Athabaskan brainstem dysgenesis syndrome
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.
| Name | Development Level | Target Family |
|---|
| Name | Description |
|---|
TCRDv4.6.9
UniProt Disease
UniProt Disease