| Disease ID | Source | Name | Description |
| 618652 | OMIM | Neurooculocardiogenitourinary syndrome (NOCGUS) | An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur. The disease is caused by variants affecting the gene represented in this entry. |