| Metadata | |
|---|---|
| ID | DOID:0050684 |
| Name | Bowen-Conradi syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19463982, https://www.omim.org/entry/211180 |
| Xrefs |
SNOMEDCT_US_2023_03_01:711153001 |
| Subsets |
DO_rare_slim |
| Synonyms |
Bowen Hutterite syndrome [EXACT] Bowen-Conradi Hutterite syndrome [EXACT] BWCNS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |