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pseudo-TORCH syndrome 1

Go to external page http://purl.obolibrary.org/obo/DOID_0050656

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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

pseudo-TORCH syndrome 1

Synonyms
  • 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
database cross reference
has obo namespace

disease_ontology

id

DOID:0050656