Term Name: | chromosome 6q11-q14 deletion syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060423] ( DOID:0060423 ) |