| Disease ID | Source | Name | Description |
| 615771 | OMIM | Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) | A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. The disease is caused by variants affecting the gene represented in this entry. |
| 156610 | OMIM | Skin creases, congenital symmetric circumferential, 1 (CSCSC1) | An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |