Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0050684 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models