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. The gene discussed is PNPLA6; the disease is peripheral neuropathy.