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

• GARD:12426
• MIM:251290
• ORDO:1229

Ontology

Human Disease   ( DOID:0050656 )