SE-ATLAS

Mucopolysaccharidose type 2, forme atténuée Acidémie méthylmalonique résistante à la vitamine B12 Acidémie isovalérique Adrénoleucodystrophie néonatale Glycogénose par déficit en aldolase A musculaire Adrénoleucodystrophie liée à l'X, forme cérébrale Mucopolysaccharidose type 4A Déficit en carnitine palmitoyltransférase II Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte 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 Metaphyseal anadysplasia Osteomesopyknosis Essential fructosuria Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Dilated cardiomyopathy with ataxia Pyruvate dehydrogenase E1-beta deficiency Intermediate osteopetrosis Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Osteopetrosis with renal tubular acidosis Metaphyseal acroscyphodysplasia Endosteal hyperostosis, Worth type Disorder of fructose metabolism Disorder of branched-chain amino acid metabolism Fanconi-Bickel syndrome Classic galactosemia Biotinidase deficiency Pentosuria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase phosphatase deficiency Sanfilippo syndrome type C Sanfilippo syndrome type B Primary hyperoxaluria type 2 Sanfilippo syndrome type D Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Hyaluronidase deficiency Chronic diarrhea due to glucoamylase deficiency 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 1 Glycogen storage disease due to muscle beta-enolase deficiency Pyle disease Pyruvate carboxylase deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Mucopolysaccharidosis type 4B Polyglucosan body myopathy type 2 Glycogen storage disease due to LAMP-2 deficiency Intermediate maple syrup urine disease Glycogen storage disease due to phosphoglycerate mutase deficiency Multiple acyl-CoA dehydrogenase deficiency Familial renal glucosuria Maffucci syndrome Very long chain acyl-CoA dehydrogenase deficiency Osteopetrosis-hypogammaglobulinemia syndrome Metachondromatosis Metaphyseal chondrodysplasia, Spahr type Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Polyostotic fibrous dysplasia Scheie syndrome Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Methylmalonic acidemia with homocystinuria Fibrous dysplasia of bone Metaphyseal chondrodysplasia, Jansen type Multiple osteochondromas Galactosemia Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Isolated glycerol kinase deficiency Primary hyperoxaluria Maple syrup urine disease Mucopolysaccharidosis type 6 Glycogen storage disease due to muscle phosphorylase kinase deficiency Pyruvate dehydrogenase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency 3-hydroxyisobutyric aciduria D-glyceric aciduria Disorder of galactose metabolism Camurati-Engelmann disease 2-methylbutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA dehydrogenase deficiency Disorder of fatty acid oxidation and ketone body metabolism Gluconeogenesis disorder Glucose transport disorder Glycogen storage disease due to acid maltase deficiency, infantile onset Disorder of ketolysis Disorder of pentose phosphate metabolism Peroxisomal beta-oxidation disorder Glycogen storage disease Mucopolysaccharidosis Galactokinase deficiency Galactose epimerase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Pyruvate dehydrogenase E1-alpha deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Sanfilippo syndrome type A Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-unresponsive methylmalonic acidemia type mut- 3-methylglutaconic aciduria type 4 Craniodiaphyseal dysplasia Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Solitary bone cyst Adult polyglucosan body disease Intermittent maple syrup urine disease Thiamine-responsive maple syrup urine disease Cole-Carpenter syndrome Isolated sternocostoclavicular hyperostosis X-linked calvarial hyperostosis Congenital sucrase-isomaltase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency Pyruvate dehydrogenase E3 deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Melorheostosis Osteopetrosis and related disorders Autosomal dominant osteopetrosis type 1 Phosphoenolpyruvate carboxykinase deficiency Glucose-galactose malabsorption Transcobalamin I deficiency Sclerosteosis Monostotic fibrous dysplasia Metaphyseal dysplasia, Braun-Tinschert type 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