Metadata | |
---|---|
ID | DOID:0060401 |
Name | chromosome 16q22 deletion syndrome |
Definition | A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. https://www.ncbi.nlm.nih.gov/pubmed/1605249 |
Xrefs | |
Parent Relationships |