| Disease ID | Source | Name | Description |
| 618825 | OMIM | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) | An autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients. The disease is caused by variants affecting the gene represented in this entry. |
| 617061 | OMIM | Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) | A disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. The disease may be caused by variants affecting the gene represented in this entry. |