The 2q37 copy number variation syndrome can result in the loss of up to 78 protein-coding genes. Patients with 2q37 CNV syndrome have intellectual disability, facial dysmorphism and skeletal and digit
It is estimated that about 1 in every 33 infants in the United States is born with a birth defect. Among these, the subset of birth defect syndromes associated with facial weakness and lack of facial