| Disease ID | Source | Name | Description |
| 265050 | OMIM | 3MC syndrome 2 (3MC2) | A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. The disease is caused by variants affecting the gene represented in this entry. |