| Disease ID | Source | Name | Description |
| 617011 | OMIM | Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) | An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |