| Disease ID | Source | Name | Description |
| 614261 | OMIM | Microcephaly-capillary malformation syndrome (MICCAP) | A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects. The disease is caused by variants affecting the gene represented in this entry. |