Autosomal recessive disease

leukocyte-adhesion deficiency syndrome Werner syndrome DOOR syndrome Native American myopathy Nijmegen breakage syndrome Norman–Roberts syndrome congenital muscular dystrophy Fraser syndrome pantothenate kinase-associated neurodegeneration Bloom syndrome hereditary folate malabsorption Walker–Warburg syndrome Johanson-Blizzard syndrome cortisone reductase deficiency 1 Sotos syndrome congenital muscular dystrophy type 1C cystic fibrosis Gordon-Holmes syndrome Fuhrmann syndrome sickle-cell disease thalassemia Bowen-Conradi syndrome achalasia microcephaly syndrome Matthew-Wood syndrome Perrault syndrome infantile cerebellar-retinal degeneration multiple intestinal atresia factor X deficiency Alpers' disease glutaric aciduria type 1 salt and pepper syndrome Sjogren-Larsson syndrome Schimke immuno-osseous dysplasia Fowler syndrome cataract-intellectual disability-hypogonadism syndrome Canavan disease familial lipoprotein lipase deficiency Warsaw breakage syndrome Donohue syndrome PGM3 deficiency prune belly syndrome COACH Syndrome Finnish heritage disease Sengers syndrome multiple congenital anomalies-hypotonia-seizures syndrome 1 mosaic variegated aneuploidy syndrome 1 Miller syndrome du Pan syndrome cleft lip-palate-ectodermal dysplasia syndrome rigid spine syndrome