| Disease ID | Source | Name | Description |
| 618886 | OMIM | Pseudo-TORCH syndrome 3 (PTORCH3) | An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common. The disease is caused by variants affecting the gene represented in this entry. |
| 616636 | OMIM | Immunodeficiency 44 (IMD44) | An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. The disease is caused by variants affecting the gene represented in this entry. |