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pseudo-TORCH syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0018828:  pseudo-TORCH syndrome 2
Orphanet:481665: 
UMLS:C4479376: