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pseudo-TORCH syndrome

Disease Summary
Associated Targets (7)
Tbio

7


Explore Associated Targets
Mondo Description Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Disease Ontology Description An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria.
Mondo Term and Equivalent IDs
MONDO:0009626:  pseudo-TORCH syndrome
GARD:0000815: 
GARD:0012426: 
OMIMPS:251290: 
Orphanet:1229: 
SCTID:722390006: 
UMLS:C3489725: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)