SE-ATLAS

2-hydroxyglutaric aciduria 3-methylcrotonyl-CoA carboxylase deficiency 3-phosphoserine phosphatase deficiency, infantile/juvenile form 6-pyruvoyl-tetrahydropterin synthase deficiency Acid sphingomyelinase deficiency Alpha-N-acetylgalactosaminidase deficiency Alpha-mannosidosis Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile form Argininemia Argininosuccinic aciduria Aspartylglucosaminuria Atypical Gaucher disease due to saposin C deficiency Atypical glycine encephalopathy Beta-ketothiolase deficiency Beta-mannosidosis Biotinidase deficiency Carbamoyl-phosphate synthetase 1 deficiency Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase II deficiency, myopathic form Carnitine palmitoyl transferase II deficiency, neonatal form Carnitine palmitoyl transferase II deficiency, severe infantile form Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Cholesteryl ester storage disease Chronic neurovisceral acid sphingomyelinase deficiency Chronic visceral acid sphingomyelinase deficiency Citrin deficiency Citrullinemia Citrullinemia type II Classic galactosemia Classic glucose transporter type 1 deficiency syndrome Classic maple syrup urine disease Classic phenylketonuria Combined malonic and methylmalonic acidemia Creatine deficiency syndrome Cystinuria D,L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Dihydropteridine reductase deficiency Disorder of urea cycle metabolism and ammonia detoxification Dopa-responsive dystonia due to sepiapterin reductase deficiency Encephalopathy due to sulfite oxidase deficiency Fabry disease Farber disease Fetal Gaucher disease Fructose-1,6-bisphosphatase deficiency Fucosidosis GM1 gangliosidosis GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM2 gangliosidosis GM2 gangliosidosis, AB variant GTP cyclohydrolase I deficiency Galactokinase deficiency Galactose epimerase deficiency Galactosialidosis Gangliosidosis Gaucher disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Glutaric acidemia type 3 Glutaryl-CoA dehydrogenase deficiency Glycerol kinase deficiency Glycine encephalopathy Glycogen storage disease Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Guanidinoacetate methyltransferase deficiency Hereditary fructose intolerance Holocarboxylase synthetase deficiency Homocystinuria due to cystathionine beta-synthase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Hurler syndrome Hurler-Scheie syndrome Hyaluronidase deficiency Hyperammonemia due to N-acetylglutamate synthase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Infantile glycine encephalopathy Infantile neurovisceral acid sphingomyelinase deficiency Intermediate maple syrup urine disease Intermittent maple syrup urine disease Isolated sulfite oxidase deficiency Isovaleric acidemia L-2-hydroxyglutaric aciduria Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Maple syrup urine disease Medium chain acyl-CoA dehydrogenase deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia without homocystinuria Methylmalonic aciduria due to transcobalamin receptor defect Mild hyperphenylalaninemia Mild phenylketonuria Mitochondrial trifunctional protein deficiency Mucolipidosis Mucolipidosis type II Mucolipidosis type III Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple sulfatase deficiency Neonatal glycine encephalopathy Neonatal intrahepatic cholestasis due to citrin deficiency Neurometabolic disorder due to serine deficiency Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Ornithine transcarbamylase deficiency Phenylketonuria Phosphoserine aminotransferase deficiency, infantile/juvenile form Propionic acidemia Pterin-4 alpha-carbinolamine dehydratase deficiency Pyridoxal phosphate-responsive seizures Pyridoxine-dependent epilepsy Salla disease Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile form Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Scheie syndrome Serine biosynthesis pathway deficiency, infantile/juvenile form Short chain acyl-CoA dehydrogenase deficiency Sialidosis Sialidosis type 1 Sialidosis type 2 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Systemic primary carnitine deficiency Tay-Sachs disease Tay-Sachs disease, adult form Tay-Sachs disease, infantile form Tay-Sachs disease, juvenile form Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Thiamine-responsive maple syrup urine disease Transient neonatal multiple acyl-CoA dehydrogenase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Very long chain acyl-CoA dehydrogenase deficiency Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut0 Wolman disease X-linked creatine transporter deficiency