Term Name: chromosome 6q11-q14 deletion syndrome
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 )

Relationships
is a type of: chromosomal deletion syndrome