| Disease ID | Source | Name | Description |
| 618205 | OMIM | Snijders Blok-Campeau syndrome (SNIBCPS) | An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The disease is caused by variants affecting the gene represented in this entry. |