Term Name: Bowen-Conradi syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome