Term Name: | chromosome 16q22 deletion syndrome |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060401] ( DOID:0060401 ) |