Thalassemia, Sickle-cell anemia, Cystic fibrosis, Tay–Sachs disease, Hereditary hemochromatosis, Amyloidosis, Finnish type Lethal arthrogryposis with anterior horn cell disease Aspartylglucosaminuria Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia Cartilage–hair hypoplasia Ceroid lipofuscinosis, neuronal, 1 Ceroid lipofuscinosis, neuronal, 3 Ceroid lipofuscinosis, neuronal, 5 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (Synonyms: Northern epilepsy; Epilepsy, progressive, with mental retardation) Choroideremia Cohen syndrome Cornea plana 2 Diarrhea 1, secretory chloride, congenital Diastrophic dysplasia Epilepsy, progressive myoclonic 1A (Unverricht–Lundborg) Glycine encephalopathy (Nonketotic hyperglycinemia) GRACILE syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7) Lactase deficiency, congenital Lethal congenital contracture syndrome 1 Lysinuric protein intolerance Meckel syndrome Megaloblastic anemia-1, Finnish and Norwegian type Mulibrey nanism Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Nephrotic syndrome, type 1 (Finnish congenital nephrosis) Ovarian dysgenesis 1 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu–Hakola disease) Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy RAPADILINO syndrome Retinoschisis 1, X-linked, juvenile Sialuria, Finnish type (Salla disease) Tibial muscular dystrophy, tardive Usher syndrome, type 3A