FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pseudo-TORCH syndrome 1 ID (Ontology) DOID:0050656 (Human Disease)
Definition A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
Also Known As "band-like calcification with simplified gyration and polymicrogyria" ; "Baraitser-Brett-Piesowicz syndrome" ; "Baraitser-Reardon syndrome" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 pseudo-TORCH syndrome 1
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "band-like calcification with simplified gyration and polymicrogyria" EXACT
    "Baraitser-Brett-Piesowicz syndrome" EXACT
    "Baraitser-Reardon syndrome" EXACT
    "bilateral band-like calcification with polymicrogyria" EXACT
    "BLC-PMG" EXACT OMO:0003012
    "BLCPMG" EXACT OMO:0003012
    "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT
    "PTORCH1" EXACT OMO:0003012
Secondary IDs
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GARD:12426
MIM:251290
ORDO:1229