]> 2026-08-06T15:19:38+00:00 Autosomal recessive disorders 14 en 2008-05-11T03:20:03Z 2454597.6389236 Autosomal recessive disorders Thalassemia 0 en Thalassemia Aceruloplasminemia 0 en Aceruloplasminemia Werner syndrome 0 en Werner syndrome Oguchi disease 0 en Oguchi disease Ablepharon macrostomia syndrome 0 en Ablepharon macrostomia syndrome Acheiropodia 0 en Acheiropodia Adenylosuccinate lyase deficiency 0 en Adenylosuccinate lyase deficiency Alpha-mannosidosis 0 en Alpha-Mannosidosis Shwachman-Diamond syndrome 0 en Shwachman-Diamond syndrome Cenani Lenz syndactylism 0 en Cenani-Lenz syndactylism Abderhalden-Kaufmann-Lignac syndrome 0 en Abderhalden-Kaufmann-Lignac syndrome Carpenter syndrome 0 en Carpenter syndrome Diastrophic dysplasia 0 en Diastrophic dysplasia Glutathione synthetase deficiency 0 en Glutathione synthetase deficiency Guanidinoacetate methyltransferase deficiency 0 en Guanidinoacetate methyltransferase deficiency Hyperlysinemia 0 en Hyperlysinemia Hypermethioninemia 0 en Hypermethioninemia Hyperprolinemia 0 en Hyperprolinemia Infantile neuroaxonal dystrophy 0 en Infantile neuroaxonal dystrophy Isobutyryl-coenzyme A dehydrogenase deficiency 0 en Isobutyryl-coenzyme A dehydrogenase deficiency Malonyl-CoA decarboxylase deficiency 0 en Malonyl-CoA decarboxylase deficiency Meckel syndrome 0 en Meckel syndrome Nephronophthisis 0 en Nephronophthisis Omenn syndrome 0 en Omenn syndrome Ornithine translocase deficiency 0 en Ornithine translocase deficiency Otospondylomegaepiphyseal dysplasia 0 en Otospondylomegaepiphyseal dysplasia Pendred syndrome 0 en Pendred syndrome Prolidase deficiency 0 en Prolidase deficiency Recessive multiple epiphyseal dysplasia 0 en Recessive multiple epiphyseal dysplasia Salla disease 0 en Salla disease Sarcosinemia 0 en Sarcosinemia Short-chain acyl-coenzyme A dehydrogenase deficiency 0 en Short-chain acyl-coenzyme A dehydrogenase deficiency Succinic semialdehyde dehydrogenase deficiency 0 en Succinic semialdehyde dehydrogenase deficiency Tangier disease 0 en Tangier disease Usher syndrome 0 en Usher syndrome Very long-chain acyl-coenzyme A dehydrogenase deficiency 0 en Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Weissenbacher-Zweymüller syndrome 0 en Weissenbacher-Zweymüller syndrome Xeroderma pigmentosum 0 en Xeroderma pigmentosum ZAP70 deficiency 0 en ZAP70 deficiency Zunich-Kaye syndrome 0 en Zunich-Kaye syndrome Zazam Sheriff Phillips syndrome 0 en Zazam Sheriff Phillips syndrome Sabinas brittle hair syndrome 0 en Sabinas brittle hair syndrome Fucosidosis 0 en Fucosidosis ICF syndrome 0 en ICF syndrome Meleda Disease 0 en Meleda Disease Mevalonic aciduria 0 en Mevalonic aciduria Werdnig-Hoffman disease 0 en Werdnig-Hoffman disease Yunis-Varon syndrome 0 en Yunis-Varon syndrome Familial isolated vitamin E deficiency 0 en Familial isolated vitamin E deficiency Idiopathic infantile arterial calcification 0 en Idiopathic infantile arterial calcification Idiopathic infantile arterial 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Smith–Lemli–Opitz syndrome 0 en Smith-Lemli-Opitz syndrome Dicarboxylic aminoaciduria 0 en Dicarboxylic aminoaciduria Glycogenosis type V 0 en Glycogenosis type V 2-methylbutyryl-coenzyme a dehydrogenase deficiency 0 en 2-methylbutyryl-coenzyme a dehydrogenase deficiency Hypertryptophanemia 0 en Hypertryptophanemia Distal spinal muscular atrophy type 1 0 en Distal spinal muscular atrophy type 1 Mitochondrial neurogastrointestinal encephalopathy syndrome 0 en Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Pontocerebellar hypoplasia 0 en Pontocerebellar hypoplasia Wiedemann–Rautenstrauch syndrome 0 en Wiedemann-Rautenstrauch syndrome Microvillus inclusion disease 0 en Microvillus inclusion disease Roberts syndrome 0 en Roberts Syndrome Lethal congenital contracture syndrome 0 en Lethal congenital contracture syndrome CANDLE syndrome 0 en CANDLE syndrome Johanson-Blizzard syndrome 0 en Johanson-Blizzard Syndrome Cystic fibrosis case study one 0 en Cystic fibrosis case study one Hemophagocytic lymphohistiocytosis cost-effectiveness of therapy 0 en Hemophagocytic lymphohistiocytosis cost-effectiveness of therapy Gunther disease 0 en Gunther disease Urocanic aciduria 0 en Urocanic aciduria Carnosinemia 0 en Carnosinemia 2-Hydroxyglutaric aciduria 0 en 2-Hydroxyglutaric aciduria Hypervalinemia 0 en Hypervalinemia Cystic fibrosis cost-effectiveness of therapy 0 en Cystic fibrosis cost-effectiveness of therapy Woodhouse-Sakati syndrome 0 en Woodhouse-Sakati syndrome Hemophagocytic lymphohistiocytosis case study one 0 en Hemophagocytic lymphohistiocytosis case study one Hemophagocytic lymphohistiocytosis future or investigational therapies 0 en Hemophagocytic lymphohistiocytosis future or investigational therapies Wilson's disease (patient information) 0 en Wilson's disease (patient information) Papillon-Lefevre syndrome 0 en Papillon-Lefevre syndrome Achalasia-addisonian syndrome 0 en Achalasia-addisonian syndrome Rothmund-Thomson syndrome 0 en Rothmund-Thomson syndrome Unverricht Lundborg Disease 0 en Unverricht Lundborg Disease Oculodentodigital syndrome 0 en Oculodentodigital syndrome Keutel syndrome 0 en Keutel syndrome ALOX12B 0 en ALOX12B Bietti's crystalline dystrophy 0 en Bietti's crystalline dystrophy Antley-Bixler syndrome 0 en Antley-Bixler syndrome EEM syndrome 0 en EEM syndrome Microvillous inclusion disease 0 en Microvillous inclusion disease Aicardi-Goutieres syndrome 0 en Aicardi-Goutieres syndrome Restrictive dermopathy 0 en Restrictive dermopathy Fibrochondrogenesis 0 en Fibrochondrogenesis Acrocallosal syndrome 0 en Acrocallosal syndrome Beta-mannosidosis 0 en Beta-mannosidosis Galactose epimerase deficiency 0 en Galactose epimerase deficiency Wolcott-Rallison syndrome 0 en Wolcott-Rallison syndrome Urbach–Wiethe disease 0 en Urbach–Wiethe Disease Micro syndrome 0 en Micro syndrome Infantile free sialic acid storage disease 0 en Infantile free sialic acid storage disease Tay-Sachs disease (patient information) 0 en Tay-Sachs disease (patient information) Shwachman-Diamond syndrome (patient information) 0 en Shwachman-Diamond syndrome (patient information) Niemann-Pick disease (patient information) 0 en Niemann-Pick disease (patient information) Homocystinuria (patient information) 0 en Homocystinuria (patient information) Geroderma osteodysplastica 0 en Geroderma osteodysplastica Shwachman-Diamond syndrome overview 0 en Shwachman-Diamond syndrome overview Shwachman-Diamond syndrome historical perspective 0 en Shwachman-Diamond syndrome historical perspective Shwachman-Diamond syndrome pathophysiology 0 en Shwachman-Diamond syndrome pathophysiology Shwachman-Diamond syndrome physical examination 0 en Shwachman-Diamond syndrome physical examination Shwachman-Diamond syndrome history and symptoms 0 en Shwachman-Diamond syndrome history and symptoms Shwachman-Diamond syndrome laboratory findings 0 en Shwachman-Diamond syndrome laboratory findings Shwachman-Diamond syndrome differential diagnosis 0 en 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Shwachman-Diamond syndrome other imaging findings 0 en Shwachman-Diamond syndrome other imaging findings Shwachman-Diamond syndrome other diagnostic studies 0 en Shwachman-Diamond syndrome other diagnostic studies Shwachman-Diamond syndrome cost-effectiveness of therapy 0 en Shwachman-Diamond syndrome cost-effectiveness of therapy Shwachman-Diamond syndrome future or investigational therapies 0 en Shwachman-Diamond syndrome future or investigational therapies Shwachman-Diamond syndrome case study one 0 en Shwachman-Diamond syndrome case study one Abderhalden-Kaufmann-Lignac syndrome historical perspective 0 en Abderhalden-Kaufmann-Lignac syndrome historical perspective Abderhalden-Kaufmann-Lignac syndrome overview 0 en Abderhalden-Kaufmann-Lignac syndrome overview Abderhalden-Kaufmann-Lignac syndrome history and symptoms 0 en Abderhalden-Kaufmann-Lignac syndrome history and symptoms 2-Hydroxyglutaric aciduria 0 en 2-Hydroxyglutaric aciduria 2-methylbutyryl-coenzyme a dehydrogenase deficiency 0 en 2-methylbutyryl-coenzyme a dehydrogenase deficiency ALOX12B 0 en ALOX12B Abderhalden-Kaufmann-Lignac syndrome 0 en Abderhalden-Kaufmann-Lignac syndrome Abderhalden-Kaufmann-Lignac syndrome historical perspective 0 en Abderhalden-Kaufmann-Lignac syndrome historical perspective Abderhalden-Kaufmann-Lignac syndrome history and symptoms 0 en Abderhalden-Kaufmann-Lignac syndrome history and symptoms Abderhalden-Kaufmann-Lignac syndrome overview 0 en Abderhalden-Kaufmann-Lignac syndrome overview Ablepharon macrostomia syndrome 0 en Ablepharon macrostomia syndrome Aceruloplasminemia 0 en Aceruloplasminemia Achalasia-addisonian syndrome 0 en Achalasia-addisonian syndrome Acheiropodia 0 en Acheiropodia Acrocallosal syndrome 0 en Acrocallosal syndrome Adenylosuccinate lyase deficiency 0 en Adenylosuccinate lyase deficiency Aicardi-Goutieres syndrome 0 en Aicardi-Goutieres syndrome Alpha-mannosidosis 0 en Alpha-Mannosidosis Antley-Bixler syndrome 0 en Antley-Bixler syndrome Beta-mannosidosis 0 en Beta-mannosidosis Bietti's crystalline dystrophy 0 en Bietti's crystalline dystrophy CANDLE syndrome 0 en CANDLE syndrome Carnosinemia 0 en Carnosinemia Carpenter syndrome 0 en Carpenter syndrome Cenani Lenz syndactylism 0 en Cenani-Lenz syndactylism Cystic fibrosis case study one 0 en Cystic fibrosis case study one Cystic fibrosis cost-effectiveness of therapy 0 en Cystic fibrosis cost-effectiveness of therapy Diastrophic dysplasia 0 en Diastrophic dysplasia Dicarboxylic aminoaciduria 0 en Dicarboxylic aminoaciduria Distal spinal muscular atrophy type 1 0 en Distal spinal muscular atrophy type 1 EEM syndrome 0 en EEM syndrome Familial isolated vitamin E deficiency 0 en Familial isolated vitamin E deficiency Fibrochondrogenesis 0 en Fibrochondrogenesis Fucosidosis 0 en Fucosidosis Galactose epimerase deficiency 0 en Galactose epimerase deficiency Geroderma osteodysplastica 0 en Geroderma osteodysplastica Glutathione synthetase deficiency 0 en Glutathione synthetase deficiency Glycogenosis type V 0 en Glycogenosis type V Guanidinoacetate methyltransferase deficiency 0 en Guanidinoacetate methyltransferase deficiency Gunther disease 0 en Gunther disease Hemophagocytic lymphohistiocytosis case study one 0 en Hemophagocytic lymphohistiocytosis case study one Hemophagocytic lymphohistiocytosis cost-effectiveness of therapy 0 en Hemophagocytic lymphohistiocytosis cost-effectiveness of therapy Hemophagocytic lymphohistiocytosis future or investigational therapies 0 en Hemophagocytic lymphohistiocytosis future or investigational therapies Homocystinuria (patient information) 0 en Homocystinuria (patient information) Hyperlysinemia 0 en Hyperlysinemia Hypermethioninemia 0 en Hypermethioninemia Hyperprolinemia 0 en Hyperprolinemia Hypertryptophanemia 0 en Hypertryptophanemia Hypervalinemia 0 en Hypervalinemia ICF syndrome 0 en ICF syndrome Idiopathic infantile arterial calcification 0 en Idiopathic infantile arterial calcification Idiopathic 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sialic acid storage disease Infantile neuroaxonal dystrophy 0 en Infantile neuroaxonal dystrophy Isobutyryl-coenzyme A dehydrogenase deficiency 0 en Isobutyryl-coenzyme A dehydrogenase deficiency Johanson-Blizzard syndrome 0 en Johanson-Blizzard Syndrome Keutel syndrome 0 en Keutel syndrome Lethal congenital contracture syndrome 0 en Lethal congenital contracture syndrome Malonyl-CoA decarboxylase deficiency 0 en Malonyl-CoA decarboxylase deficiency Meckel syndrome 0 en Meckel syndrome Meleda Disease 0 en Meleda Disease Mevalonic aciduria 0 en Mevalonic aciduria Micro syndrome 0 en Micro syndrome Microvillous inclusion disease 0 en Microvillous inclusion disease Microvillus inclusion disease 0 en Microvillus inclusion disease Mitochondrial neurogastrointestinal encephalopathy syndrome 0 en Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Nephronophthisis 0 en Nephronophthisis Niemann-Pick disease (patient information) 0 en Niemann-Pick disease (patient information) Oculodentodigital syndrome 0 en Oculodentodigital syndrome Oguchi disease 0 en Oguchi disease Omenn syndrome 0 en Omenn syndrome Ornithine translocase deficiency 0 en Ornithine translocase deficiency Otospondylomegaepiphyseal dysplasia 0 en Otospondylomegaepiphyseal dysplasia Papillon-Lefevre syndrome 0 en Papillon-Lefevre syndrome Pendred syndrome 0 en Pendred syndrome Pontocerebellar hypoplasia 0 en Pontocerebellar hypoplasia Prolidase deficiency 0 en Prolidase deficiency Recessive multiple epiphyseal dysplasia 0 en Recessive multiple epiphyseal dysplasia Restrictive dermopathy 0 en Restrictive dermopathy Roberts syndrome 0 en Roberts Syndrome Rothmund-Thomson syndrome 0 en Rothmund-Thomson syndrome Sabinas brittle hair syndrome 0 en Sabinas brittle hair syndrome Salla disease 0 en Salla disease Sarcosinemia 0 en Sarcosinemia Short-chain acyl-coenzyme A dehydrogenase deficiency 0 en Short-chain acyl-coenzyme A dehydrogenase deficiency Shwachman-Diamond syndrome 0 en Shwachman-Diamond 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