Although it was possible to delineate cases with chromosomal aberrations by karyotype and genetic abnormalities by clinical criteria and molecular analysis (e.g., neurofibromatosis type 1 {NF1}, Werdnig-Hoffmann, and mucopolysaccharidosis), due to the resource-limited setting, there was a lack of mutation analysis in several cases [12]. The gene discussed is NF1; the disease is neurofibromatosis type 1.