| Disease ID | Source | Name | Description |
| 618798 | OMIM | Beck-Fahrner syndrome (BEFAHRS) | A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. The disease is caused by variants affecting the gene represented in this entry. |