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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
pseudo-TORCH syndrome 1
Summary
- Synonym
-
- BLC-PMG
- BLCPMG
- Baraitser-Brett-Piesowicz syndrome
- Baraitser-Reardon syndrome
- PTORCH1
- band-like calcification with simplified gyration and polymicrogyria
- bilateral band-like calcification with polymicrogyria
- microcephaly-intracranial calcification-intellectual disability syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050656
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
