Term Name: | pseudo-TORCH syndrome 1 |
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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 |
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. |
Ontology: | Human Disease [DOID:0050656] ( DOID:0050656 ) |