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Disease Ontology Browser
pseudo-TORCH syndrome 1 (DOID:0050656)
Alliance: disease page
Synonyms: band-like calcification with simplified gyration and polymicrogyria; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; bilateral band-like calcification with polymicrogyria; BLC-PMG; BLCPMG; microcephaly-intracranial calcification-intellectual disability syndrome; PTORCH1
Alt IDs: OMIM:251290, ORDO:1229
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 OCLN on chromosome 5q13.2.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2021
MGI 6.16
The Jackson Laboratory