For example, developmental and behavioral evaluation were conducted in the patients with variants of AFF2 and IL1RAPL1, respectively; seizures, short stature, abnormalities of skeleton system, eye, ear, brain and gastrointestinal tract screening, and developmental and behavioral evaluation were implemented in the patient with a de novo SNV of POGZ; hormone deficiency, short stature, obesity, hypotonia, seizures and feeding problems screening were evaluated in the patient with a de novo SNV of ADNP. And correspondingly, medication was changed. The gene discussed is IL1RAPL1; the disease is obesity due to melanocortin 4 receptor deficiency.