OBO ID: DOID:0050656 |
Term Name: | pseudo-TORCH syndrome 1 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0050656 ) |
OTHER pseudo-TORCH syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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