chromosome 16p12.1 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Abnormal facial shape
• Atypical behavior
• Hypotonia
• Growth delay
• Seizure
• Microcephaly
• Hypoplastic left ventricle