PNPLA6‐related disorders are autosomal recessive, with heterogeneous manifestations, including cerebellar ataxia, upper motor neuron dysfunction, chorioretinal dystrophy, hypogonadotropic hypogonadism with or without anterior hypopituitarism, peripheral neuropathy, hair anomalies, short stature, and cognitive impairment. Here, PNPLA6 is linked to cerebellar ataxia.