Search Ontology:
Human Disease

pseudo-TORCH syndrome 1

Term ID
DOID:0050656
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 the OCLN gene on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/20727516
References
Ontology
Human Disease   ( DOID:0050656 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models