OPHN1 and cerebellar ataxia: The recognizable phenotype includes intellectual disability, a distinctive facial appearance with strabismus, brain anomalies such as cerebral ventricular augmentation and cerebellar hypoplasia preponderant in the vermis, ataxia, seizures, and hypogenitalism.[3,9]OPHN1 is omnipresent expressed in fetal but also in the adult brain, especially in the hippocampus, cerebellum, and olfactory bulb.[3,10]