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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050656
GARD:0000815
GARD:0012426
OMIMPS:251290
Orphanet:1229
SCTID:722390006
UMLS:C3489725
MONDO:0009626
High level summary of knowledge for a disease, including descriptions and datasource references.