pseudo-TORCH syndrome 1

Summary

DOID:0050656 - pseudo-TORCH syndrome 1

Disease Ontology 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.

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ocln

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009626 - pseudo-TORCH syndrome

MONDO:0009626 - pseudo-TORCH syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)