| Metadata | |
|---|---|
| ID | DOID:0050656 |
| Name | pseudo-TORCH syndrome 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20727516 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| 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] BLCPMG [EXACT] microcephaly-intracranial calcification-intellectual disability syndrome [EXACT] PTORCH1 [EXACT] |
| Parent Relationships |
is_a syndrome |