Term Name: pseudo-TORCH syndrome 1
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.
Ontology: Human Disease [DOID:0050656]   ( DOID:0050656 )

Relationships
is a type of: autosomal recessive disease syndrome