| Disease ID | Source | Name | Description |
| 300000 | OMIM | Opitz GBBB syndrome 1 (GBBB1) | A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. The disease is caused by variants affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules. |