| Metadata | |
|---|---|
| ID | DOID:0060423 |
| Name | chromosome 6q11-q14 deletion syndrome |
| Definition | A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. https://pubmed.ncbi.nlm.nih.gov/19213033/ |
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