Nail dysplasia, early greying, abnormal skin pigmentation, oral leukoplakia, GI dysfunction, neuropsychiatric disorders, interstitial lung disease (adult presentation), emphysema (adult presentation), cryptogenic cirrhosis (adult presentation), Hoyeraal-Hreidarsson Syndrome (cerebellar hypoplasia in young children), Revesz syndrome (bilateral exudative retinopathy in young children, typically associated with TINF2). This evidence concerns the gene TINF2 and Hoyeraal-Hreidarsson syndrome.