SE-ATLAS

2-hydroxyglutaric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency ALDH18A1-related De Barsy syndrome ALG1-CDG ALG11-CDG ALG12-CDG ALG13-CDG ALG2-CDG ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG ATP13A2-related juvenile neuronal ceroid lipofuscinosis ATTRV30M amyloidosis Abetalipoproteinemia Aceruloplasminemia Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acyl-CoA dehydrogenase deficiency Adrenomyeloneuropathy Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Adult-onset autosomal recessive sideroblastic anemia Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset dystonia-parkinsonism Alpers-Huttenlocher syndrome Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Alpha-mannosidosis Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile form Amish infantile epilepsy syndrome Amyloidosis Aromatic L-amino acid decarboxylase deficiency Aspartylglucosaminuria Ataxia with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy, classic form Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive dopa-responsive dystonia Autosomal recessive optic atrophy, OPA7 type Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Autosomal recessive spastic paraplegia type 55 B4GALT1-CDG Barth syndrome Beta-propeller protein-associated neurodegeneration Beta-ureidopropionase deficiency Biotin-thiamine-responsive basal ganglia disease Björnstad syndrome CADDS CHIME syndrome CLN1 disease CLN10 disease CLN11 disease CLN13 disease CLN2 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN9 disease COASY protein-associated neurodegeneration COG1-CDG COG4-CDG COG5-CDG COG7-CDG COG8-CDG Canavan disease Cardiomyopathy-hypotonia-lactic acidosis syndrome 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 Cerebrotendinous xanthomatosis Childhood-onset spasticity with hyperglycinemia Choreoacanthocytosis Chronic diarrhea with villous atrophy Classic glucose transporter type 1 deficiency syndrome Classic pantothenate kinase-associated neurodegeneration Classic phenylketonuria Coenzyme Q10 deficiency Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 9 Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Congenital disorder of glycosylation with epilepsy as a major feature Congenital disorder of glycosylation with neurological involvement Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Fukuyama type Congenital myasthenic syndromes with glycosylation defect Congenital neuronal ceroid lipofuscinosis Creatine deficiency syndrome D,L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria DDOST-CDG DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect DPAGT1-CDG DPM1-CDG DPM3-CDG De Barsy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Dihydropteridine reductase deficiency Disorder of carnitine cycle and carnitine transport Disorder of energy metabolism Disorder of fatty acid oxidation and ketogenesis Disorder of fatty acid oxidation and ketone body metabolism Disorder of ketolysis Dopa-responsive dystonia Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Early myoclonic encephalopathy Encephalopathy due to prosaposin deficiency Encephalopathy due to sulfite oxidase deficiency Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Epileptic encephalopathy with global cerebral demyelination Ethylmalonic encephalopathy Exercise intolerance with lactic acidosis FASTKD2-related infantile mitochondrial encephalomyopathy FKRP-related limb-girdle muscular dystrophy R9 Farber disease Fatal infantile cytochrome C oxidase deficiency Fatal infantile encephalopathy-pulmonary hypertension syndrome Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatty acid hydroxylase-associated neurodegeneration Folinic acid-responsive seizures Free sialic acid storage disease Free sialic acid storage disease, infantile form Friedreich ataxia Fucosidosis Fukutin-related limb-girdle muscular dystrophy R13 Fumaric aciduria GM1 gangliosidosis GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM2 gangliosidosis GM2 gangliosidosis, AB variant GM3 synthase deficiency GMPPB-related limb-girdle muscular dystrophy R19 GNE myopathy GRACILE syndrome GTP cyclohydrolase I deficiency Galactosialidosis Gamma-aminobutyric acid transaminase deficiency Gaucher disease type 2 Gaucher disease type 3 Glutaryl-CoA dehydrogenase deficiency Glycine encephalopathy Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Guanidinoacetate methyltransferase deficiency HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type Hartnup disease Hemolytic anemia due to red cell pyruvate kinase deficiency Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hereditary spastic paraplegia Homocystinuria due to cystathionine beta-synthase deficiency Homocystinuria without methylmalonic aciduria Huntington disease Hurler syndrome Hurler-Scheie syndrome Hydroxykynureninuria Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperprolinemia type 1 Hyperprolinemia type 2 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hypotonia with lactic acidemia and hyperammonemia Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency ISPD-related limb-girdle muscular dystrophy R20 Infantile Krabbe disease Infantile Refsum disease Infantile cerebellar-retinal degeneration Infantile glycine encephalopathy Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile neurovisceral acid sphingomyelinase deficiency Intermediate severe Salla disease Isolated ATP synthase deficiency Isolated complex I deficiency Isolated complex III deficiency Isolated cytochrome C oxidase deficiency Isolated oxidative phosphorylation complex disorder Isolated succinate-CoQ reductase deficiency Isolated sulfite oxidase deficiency Juvenile neuronal ceroid lipofuscinosis Krabbe disease Kufor-Rakeb syndrome L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency Late infantile neuronal ceroid lipofuscinosis Late-infantile/juvenile Krabbe disease Lesch-Nyhan syndrome Leukocyte adhesion deficiency type II Leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Lipoic acid biosynthesis defect Lipoic acid synthetase deficiency Lipoyl transferase 1 deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency MAN1B1-CDG MEGDEL syndrome MGAT2-CDG MOGS-CDG MPDU1-CDG Malonic aciduria McLeod neuroacanthocytosis syndrome Medium chain acyl-CoA dehydrogenase deficiency Menkes disease Metabolic disease due to other fatty acid oxidation disorder Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Methionine adenosyltransferase I/III deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Mild Canavan disease Mild hyperphenylalaninemia Mild phenylketonuria Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA maintenance syndrome Mitochondrial DNA-related dystonia Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial disease Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial membrane protein-associated neurodegeneration Mitochondrial membrane transport disorder Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondrial protein import disorder Mitochondrial substrate carrier disorder Mitochondrial trifunctional protein deficiency Mohr-Tranebjaerg syndrome Monoamine oxidase A deficiency Motor neuron disease Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 3 Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome type 1 Multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Muscle-eye-brain disease Muscular channelopathy Musculocontractural Ehlers-Danlos syndrome NARP syndrome Neonatal adrenoleukodystrophy Neonatal glycine encephalopathy Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation Neuroferritinopathy Neurological conditions associated with aminoacylase 1 deficiency Neurometabolic disease Neuromuscular disease Neuromuscular junction disease Neuronal ceroid lipofuscinosis 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 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature OBSELETE:Tay-Sachs disease, B1 variant OBSOLETE: CLN3 disease Oxoglutaric aciduria PLA2G6-associated neurodegeneration PMM2-CDG POMGNT1-related limb-girdle muscular dystrophy R15 POMT1-related limb-girdle muscular dystrophy R11 POMT2-related limb-girdle muscular dystrophy R14 PYCR1-related De Barsy syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Pantothenate kinase-associated neurodegeneration Pearson syndrome Periodic paralysis with later-onset distal motor neuropathy Peroxisome biogenesis disorder Perrault syndrome Peters plus syndrome Phenylketonuria Pontocerebellar hypoplasia type 6 Progressive epilepsy-intellectual disability syndrome, Finnish type Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive myoclonic epilepsy type 3 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Pterin-4 alpha-carbinolamine dehydratase deficiency Pyridoxal phosphate-responsive seizures Pyridoxine-dependent epilepsy Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase deficiency Pyruvate dehydrogenase phosphatase deficiency Pyruvate metabolism disorder RFT1-CDG Rare ataxia Rare mitochondrial non-syndromic sensorineural deafness Rare sucking/swallowing disorder Refsum disease Renal tubulopathy-encephalopathy-liver failure syndrome Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 SLC35A1-CDG SLC35A2-CDG SRD5A3-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Salla disease Salt-and-pepper syndrome 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 Sanfilippo syndrome type D Scheie syndrome Severe Canavan disease Severe X-linked mitochondrial encephalomyopathy Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Short chain acyl-CoA dehydrogenase deficiency Sialidosis type 1 Sjögren-Larsson syndrome Skeletal muscle disease Spastic paraplegia type 7 Spinocerebellar ataxia type 28 Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency 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 TMEM165-CDG TMEM70-related mitochondrial encephalo-cardio-myopathy Tangier disease Tay-Sachs disease Tay-Sachs disease, adult form Tay-Sachs disease, infantile form Tay-Sachs disease, juvenile form Temtamy preaxial brachydactyly syndrome Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Transient neonatal multiple acyl-CoA dehydrogenase deficiency Tricarboxylic acid cycle disorder Triose phosphate-isomerase deficiency Unspecified mitochondrial disorder Urocanic aciduria Very long chain acyl-CoA dehydrogenase deficiency Walker-Warburg syndrome Woodhouse-Sakati syndrome Wrinkly skin syndrome X-linked adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy X-linked congenital disorder of glycosylation with intellectual disability as a major feature X-linked creatine transporter deficiency XYLT1-CDG Zellweger syndrome Zellweger-like syndrome without peroxisomal anomalies