Term Name: | Bowen-Conradi syndrome |
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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. |
Ontology: | Human Disease [DOID:0050684] ( DOID:0050684 ) |