Bowen-Conradi syndrome

Term ID

DOID:0050684

Synonyms

• Bowen Hutterite syndrome
• Bowen-Conradi Hutterite syndrome
• BWCNS

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. (2)

References

• GARD:5950
• MESH:C537081
• OMIM:211180
• ORDO:1270
• SNOMEDCT_US_2023_03_01:711153001
• UMLS_CUI:C1859405

Ontology

Human Disease   ( DOID:0050684 )