Bowen-Conradi syndrome (DOID:0050684)
Alliance: disease page
Synonyms: Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome; BWCNS
Alt IDs: OMIM:211180, MESH:C537081, ORDO:1270, UMLS_CUI:C1859405
Definition: A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.