Autosomal recessive disease

congenital lactase deficiency pyruvate kinase deficiency purine nucleoside phosphorylase deficiency RIDDLE syndrome enhanced S-cone syndrome branched-chain keto acid dehydrogenase kinase deficiency H syndrome Pierson syndrome neurodegeneration with brain iron accumulation 4 hereditary spastic paraplegia 15 platelet-type bleeding disorder 19 3-M syndrome hereditary spastic paraplegia 7 brittle cornea syndrome congenital disorder of glycosylation type Ia Troyer syndrome Ullrich congenital muscular dystrophy cold-induced sweating syndrome Laurence-Moon syndrome congenital hereditary endothelial dystrophy of cornea gelatinous drop-like corneal dystrophy microvillus inclusion disease Senior-Loken syndrome Galloway-Mowat syndrome hereditary spastic paraplegia 23 asphyxiating thoracic dysplasia Arakawa's syndrome I BIDS syndrome immunodeficiency 26 Bjornstad syndrome sucrose intolerance CD25 deficiency Carvajal syndrome congenital secretory chloride diarrhea 1 congenital diarrhea 5 with tufting enteropathy short-rib thoracic dysplasia 9 with or without polydactyly EEM syndrome CODAS syndrome Frank–Ter Haar syndrome GRACILE syndrome infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly obesity due to congenital leptin deficiency gray platelet syndrome Seckel syndrome Antley-Bixler syndrome CD40 deficiency Jackson–Weiss syndrome Roberts syndrome TAR syndrome congenital disorder of glycosylation Iq