Baraitser-Winter syndrome 1

Summary

DOID:0081112 - Baraitser-Winter syndrome 1

Disease Ontology Definition:A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.

Synonyms:

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

: actb

MIM:

MIM:243310 - BARAITSER-WINTER SYNDROME 1; BRWS1

MIM:243310 - BARAITSER-WINTER SYNDROME 1; BRWS1

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

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

Parent(s): autosomal dominant disease (is_a), Baraitser-Winter syndrome (is_a)