| Disease ID | Source | Name | Description |
| 618737 | OMIM | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) | An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures. The disease may be caused by variants affecting the gene represented in this entry. |