Version: 8.1.0
Date: Fri Apr 18 2025
chromosome 6q11-q14 deletion syndrome
DOID:0060423
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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