| Disease ID | Source | Name | Description |
| 618316 | OMIM | Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF) | An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. The disease is caused by variants affecting the gene represented in this entry. |