SE-ATLAS

Mucopolysaccharidosis type 2, attenuated form Vitamin B12-unresponsive methylmalonic acidemia Isovaleric acidemia Neonatal adrenoleukodystrophy Glycogen storage disease due to aldolase A deficiency X-linked cerebral adrenoleukodystrophy Mucopolysaccharidosis type 4A Carnitine palmitoyltransferase II deficiency Short chain acyl-CoA dehydrogenase deficiency Carnitine-acylcarnitine translocase deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Acyl-CoA dehydrogenase 9 deficiency Transaldolase deficiency 3-methylglutaconic aciduria type 7 Methylmalonic aciduria due to transcobalamin receptor defect Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Vitamin B12-unresponsive methylmalonic acidemia type mut0 3-methylcrotonyl-CoA carboxylase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria 3-hydroxy-3-methylglutaric aciduria Vitamin B12-responsive methylmalonic acidemia Propionic acidemia Medium chain acyl-CoA dehydrogenase deficiency X-linked adrenoleukodystrophy Barth syndrome Adrenomyeloneuropathy Beta-ketothiolase deficiency Multiple carboxylase deficiency Carnitine palmitoyl transferase 1A deficiency Systemic primary carnitine deficiency Metaphyseal chondrodysplasia, Schmid type Ollier disease Bifunctional enzyme deficiency Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Hereditary fructose intolerance Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency McCune-Albright syndrome Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 7 Polyglucosan body myopathy type 1 Autosomal recessive malignant osteopetrosis Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Anadysplasie, metaphysäre Osteomesopyknose Fruktosurie, essentielle Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel Dilatative Kardiomyopathie mit Ataxie Pyruvat-Dehydrogenase E1-beta-Mangel Osteopetrosis, intermediäre Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel Osteopetrose mit renaler tubulärer Azidose Akroscyphodysplasie, metaphysäre Endostale Hyperostose, Typ Worth Fruktose-Stoffwechselstörung Verzweigte Aminosäuren-Stoffwechselstörung Fanconi-Bickel-Syndrom Galaktosämie, klassische Biotinidase-Mangel Pentosurie 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel Pyruvat-Dehydrogenase E2-Mangel Pyruvat-Dehydrogenase-Phosphatase-Mangel Sanfilippo-Krankheit Typ C Sanfilippo-Krankheit Typ B Hyperoxalurie, primäre, Typ 2 Sanfilippo-Krankheit Typ D Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile kombinierte hepatische und myopathische Form Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile neuromuskuläre Form Hyaluronidasemangel Diarrhoe, chronische, durch Glucoamylase-Mangel 3-Methylglutaconazidurie Typ 3 3-Methylglutaconazidurie Typ 1 Glykogenose durch muskulären beta-Enolase-Mangel Pyle-Krankheit Pyruvat-Carboxylase-Mangel Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Mukopolysaccharidose Typ 4B Polyglucosan-Körper-Myopatie Typ 2 Glykogenose durch LAMP-2-Mangel Ahornsirup-Krankheit, intermediäre Glykogenose durch Phosphoglycerat-Mutase-Mangel Acyl-CoA-Dehydrogenase-Mangel, multipler Renale Glukosurie, familiäre Maffucci-Syndrom Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Osteopetrose-Hypogammaglobulinämie-Syndrom Metachondromatose Chondrodysplasie, metaphysäre, Typ Spahr Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel Knochendysplasie, fibröse polyostotische Scheie-Syndrom Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Methylmalonazidämie mit Homocystinurie Knochendysplasie, fibröse Chondrodysplasie, metaphysäre, Typ Jansen Osteochondrome, multiple Galaktosämie Glykogenose Typ 3 Glykogenose Typ 5 Glykogenose durch Phosphorylase-Kinase-Mangel Glykogenose Typ 7 Glycerol-Kinase-Mangel, isolierter Hyperoxalurie, primäre Ahornsirup-Krankheit Mukopolysaccharidose Typ 6 Glykogenose durch muskulären Phosphorylasekinase-Mangel Pyruvat-Dehydrogenase-Mangel Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel 3-Hydroxy-Isobuttersäure-Krankheit D-Glycerat-Kinase-Mangel Galaktose-Stoffwechselstörung Camurati-Engelmann-Syndrom 2-Methylbutyryl-CoA-Dehydrogenase-Mangel Isobutyryl-CoA-Dehydrogenasemangel Fettsäureoxidationsstörungen und Ketogenesedefekt Glukoneogenese-Störung Glukosetransport-Störung Glykogenose Typ 2, infantile Form Ketokörper-Stoffwechselstörung Pentosephosphat-Stoffwechselstörung Peroxisomale beta-Oxidationsstörung Glykogenose Mukopolysaccharidose Galaktokinase-Mangel Galaktose-Epimerase-Mangel Glykogenose Typ 4, progressive hepatische Form Pyruvat-Dehydrogenase E1-alpha-Mangel Glykogenose Typ 1b Glykogenose Typ 4, nonprogressive hepatische Form Glykogenose Typ 1a Sanfilippo-Krankheit Typ A Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB Methylmalonazidämie, Vitamin B12-sensible, Typ cblA Methylmalonazidämie, Vitamin B12-resistente, Typ mut- 3-Methylglutaconazidurie Typ 4 Dysplasie, kraniodiaphysäre Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Knochenzyste, solitäre Polyglukosankörper-Krankheit, adulte Ahornsirup-Krankheit, intermittierende Ahornsirup-Krankheit, Thiamin-responsive Cole-Carpenter-Syndrom Hyperostose, isolierte sternokostoklavikuläre X-chromosomale Hyperostose der Schädelkalotte Saccharase-Isomaltase-Mangel, kongenitaler Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase-Mangel Pyruvat-Dehydrogenase E3-Mangel Glykogenose durch Leberphosphorylasekinasemangel Melorheostose Osteopetrose Osteopetrose, autosomal-dominante, Typ 1 Phosphoenolpyruvat-Carboxykinase-Mangel Glukose-Galaktose-Malabsorption Transcobalamin I-Mangel Sklerosteose Monostotische fibröse Dysplasie Dysplasie, metaphysäre, Typ Braun-Tinschert Genochondromatosis type 1 Hurler syndrome Hurler-Scheie syndrome Hyperostosis corticalis generalisata Primary hyperoxaluria type 1 Primary hyperoxaluria type 3 Medial condensing osteitis of the clavicle Mucopolysaccharidosis type 2, severe form Mazabraud syndrome Hyperostosis cranialis interna Glycogen storage disease due to muscle and heart glycogen synthase deficiency Morgagni-Stewart-Morel syndrome Cartilage-hair hypoplasia Dysplasia of head of femur, Meyer type Galactose mutarotase deficiency Atelosteogenesis type I Classic glucose transporter type 1 deficiency syndrome Multiple epiphyseal dysplasia, Lowry type Metaphyseal chondrodysplasia, Kaitila type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Complex lethal osteochondrodysplasia Omodysplasia Stüve-Wiedemann syndrome Autosomal recessive omodysplasia Autosomal dominant omodysplasia Multiple synostoses syndrome Mesomelic dysplasia, Savarirayan type Pseudodiastrophic dysplasia Gnathodiaphyseal dysplasia Osteosclerotic metaphyseal dysplasia Acromesomelic dysplasia, Hunter-Thompson type 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 Trehalase deficiency Craniometaphyseal dysplasia Blomstrand lethal chondrodysplasia Kyphomelic dysplasia Mesomelic dysplasia, Kantaputra type Acrocapitofemoral dysplasia Isolated osteopoikilosis Odontochondrodysplasia Ribose-5-P isomerase deficiency Peroxisomal acyl-CoA oxidase deficiency Pyknoachondrogenesis Atelosteogenesis type III Singleton-Merten dysplasia Genochondromatosis type 2 Mitochondrial trifunctional protein deficiency Pycnodysostosis Schwartz-Jampel syndrome Aneurysmal bone cyst Desbuquois syndrome Dysosteosclerosis Dysostosis, Stanescu type Bruck syndrome Upington disease Hereditary folate malabsorption