Variants in the MCM3AP gene cause “Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.” Ataxia, dysarthria, muscle weakness, hyporeflexia, drop foot, loss of ambulation, loss of sensation in the feet, obesity, and motor axonal polyneuropathy on EMG were detected in the patient. This evidence concerns the gene MCM3AP and obesity due to melanocortin 4 receptor deficiency.