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 the OCLN gene on chromosome 5q13.2.