OBO ID: DOID:0050656
Term Name: pseudo-TORCH syndrome 1 Search Ontology:
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 OCLN on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/20727516
References:
Ontology: Human Disease   (DOID:0050656)
OTHER pseudo-TORCH syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OCLN Pseudo-TORCH syndrome 1 251290
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None