OBO ID: DOID:0050684
Term Name: Bowen-Conradi syndrome Search Ontology:
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)
OTHER Bowen-Conradi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EMG1 Bowen-Conradi syndrome 211180
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None