| Disease ID | Source | Name | Description |
| 617397 | OMIM | Pseudo-TORCH syndrome 2 (PTORCH2) | An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disease is caused by variants affecting the gene represented in this entry. |