chromosome 6q11-q14 deletion syndrome

Term ID

DOID:0060423

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. https://pubmed.ncbi.nlm.nih.gov/19213033/

References

• MIM:613544

Ontology

Human Disease   ( DOID:0060423 )