|OBO ID: DOID:0050656|
|Term Name:||pseudo-TORCH syndrome 1||Search Ontology:|
|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 OCLN on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/20727516|
|Ontology:||Human Disease (DOID:0050656)|
|is a type of:||
OTHER pseudo-TORCH syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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