pseudo-TORCH syndrome
Findings
No curated finding names pseudo-TORCH syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Mendelian disease characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0009626), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophy
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OCLNHGNC:8104
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (3)
Other names
6 names
Resolves to: pseudo-TORCH syndrome
- Also called
- band-like calcification with simplified gyration and polymicrogyriaBaraitser-Brett-Piesowicz syndromeBaraitser-Reardon syndromebilateral band-like calcification with polymicrogyriaBLC-PMGmicrocephaly-intracranial calcification-intellectual disability syndrome