An 18‐year‐old woman from a consanguineous family (case 134.1) homozygous for the EPG5 variant c.5943‐9_5943‐5del presented with parkinsonism with anarthria, an extraocular movement disorder, generalized dystonia pronounced in the oropharyngeal muscles, spasticity, an irregular jerky tremor in the lower limbs, and cognitive decline. This evidence concerns the gene EPG5 and Parkinson disease.