About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/24/2023
MGI 6.22
The Jackson Laboratory