SE-ATLAS

Mitochondriales Dysfunktions-Syndrom, multiples Kombinierter Defekt der oxidativen Phosphorylierung Typ 4 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel GM1-Gangliosidose Typ 2 Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel Abetalipoproteinämie Hypotonie mit Laktatazidose und Hyperammonämie Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Enzephalopathie durch Sulfitoxidase-Mangel Neuromuskuläre Übertragungsstörung Sialinsäure-Speicherkrankheit Acyl-CoA-Dehydrogenase-Mangel, multipler neonataler transienter Pearson-Syndrom Ceroid-Lipofuszinose, neuronale, adulte Mitochondriales DNA-Maintenance-Syndrom CLN10-Krankheit Menkes-Syndrom 3-Hydroxy-3-Methylglutarazidurie Carnitin-Palmitoyl-Transferase II-Mangel Carnitin-Mangel, primärer systemischer Fumarazidurie CLN4A-Krankheit Sanfilippo-Krankheit Typ B Schwerhörigkeit, mitochondriale nichtsyndromale sensorineurale, mit erhöhter Empfindlichkeit gegen Aminoglykoside Tay-Sachs-Krankheit Peters plus-Syndrom Glycin-Enzephalopathie, atypische Sulfitoxidase-Mangel, isolierter Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom Typ 2 Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel Oxoglutarazidurie Mukolipidose Typ IV Diarrhoe, chronische mit Zottenatrophie Alpha-N-Acetylgalactosaminidase-Mangel Typ 1 D,L-2-Hydroxy-Glutarazidurie Epilepsie, progressive - Intelligenzminderung, Finnischer Typ Beta-propeller-Protein-assoziierte Neurodegeneration Kongenitale Ichthyose-Intelligenzminderung-spastische Tetraplegie-Syndrom Mittelketten-Acyl-CoA-Dehydrogenase-Mangel GM2-Gangliosidose, AB-Variante Ataxie, spinozerebelläre, Typ 28 Alpers-Huttenlocher-Syndrom Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16 CLN6-Krankheit Scheie-Syndrom Hypertrophe Kardiomyopathie mit Nierenanomalien durch mitochondriale DNA-Mutation Mitochondriopathie Hurler-Scheie-Syndrom ISPD-assoziierte Gliedergürtelmuskeldystrophie R20 Hyperphenylalaninämie/Phenylketonurie, Tetrahydrobiopterin-responsive Chondrodysplasia punctata, rhizomele, Typ 1 Triosephosphat-Isomerase-Mangel Neuromuskuläre Krankheit Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie SLC35A1-CDG CLN7-Krankheit Tangier-Krankheit Enzephalomyopathie, mitochondriale, schwere, X-chromosomale Neurometabolische Krankheit Chondrodysplasia punctata, rhizomele, Typ 3 GNE-Myopathie Monoaminoxidase-A-Mangel Saug-/Schluckstörung Lipoyl-Transferase 1-Mangel Störungen der mitochondrialen Proteinimports Mitochondriales Dysfunktions-Syndrom, multiples, Typ 2 Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Farber-Krankheit DDOST-CDG Langketten-Acyl-CoA-Dehydrogenase-Mangel Carnitin-Stoffwechselstörung Kreatin-Mangel-Syndrom Defekt des mitochondrialen trifunktionalen Proteins Kombinierter Defekt der oxidativen Phosphorylierung Typ 11 Fettsäure-Hydroxylase-assoziierte Neurodegeneration Mitochondriales Dysfunktions-Syndrom, multiples, Typ 1 POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15 Störungen der oxidativen Phosphorylierung, isolierte Myasthenische Syndrome, kongenitale, mit Glykosylierungsdefekt Mitochondriopathie durch Reifungsdefekt/Störung des Zusammenbaus des mitochondrialen Atmungsketten-Komplexes D-2-Hydroxy-Glutarazidurie Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel Kombinierter Defekt der oxidativen Phosphorylierung Typ 8 Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom Krabbe-Syndrom, infantile Form Succinat-Coenzym-Q-Reduktase-Mangel, isolierter PMM2-CDG Mitochondriale DNA-assoziierte Dystonie Homocystinurie ohne Methylmalonazidurie XYLT1-CDG ALG3-CDG Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel Pantothenat-Kinase-assoziierte Neurodegeneration, atypische Form Krabbe-Syndrom Alpha-Mannosidose, infantile Form Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel Ceroid-Lipofuszinose, neuronale Walker-Warburg-Syndrom Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter ALG2-CDG Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom Kongenitale Glykosylierungs-Krankheit mit Intelligenzminderung als Hauptmerkmal (nicht X-chromosomal) ALG9-CDG ALG1-CDG GM2-Gangliosidose Krabbe-Syndrom, mit Beginn im Erwachsenenalter Biotin-Thiamin-responsive Störung der Basalganglien Ehlers-Danlos-Syndrom, muskulo-kontrakturaler Typ Kombinierter Defekt der oxidativen Phosphorylierung Typ 13 Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Refsum-Krankheit, infantile Form Refsum-Krankheit Xanthomatose, zerebrotendinöse Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form Energiestoffwechselstörung Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ MAN1B1-CDG Beta-Ureidopropionase-Mangel Saure Sphingomyelinase-Mangel, infantile Form Zellweger-Syndrom Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean Sandhoff-Krankheit, juvenile Form De Barsy-Syndrom Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom Mitochondriopathie durch Defekt der mitochondrialen Proteinsynthese Mitochondriales DNA-Depletionssyndrom Niemann-Pick-Krankheit Typ C Pyruvat-Stoffwechselstörung L-Arginin:Glycin-Amidinotransferase-Mangel Wrinkly-Skin-Syndrom Autosomal-rezessive spastische Ataxie-Optikusatrophie-Dysarthrie-Syndrom Optikusatrophie und periphere Neuropathie, autosomal-dominant DPAGT1-CDG Hypertrophe Kardiomyopathie, fatale infantile, durch Komplex I-Defekt der mitochondriale Atmungskette Tay-Sachs-Krankheit, B-Variante, infantile Form Sandhoff-Krankheit Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani Niemann-Pick-Krankheit Typ C, juvenile neurologische Form Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung COG5-CDG Mitochondriale Störungen der oxidativen Phosphorylierung durch Anomalien der mitochondrialen DNA Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form DPM3-CDG Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Infantile Sialinsäure-Speicherkrankheit Fatale mitochondriale Krankheit durch kombinierten Defekt der oxidativen Phosphorylierung Typ 3 SRD5A3-CDG Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt, DNM1L-assoziiert Canavan-Krankheit, schwere Mitochondriale Krankheiten, nukleären Ursprungs Malonazidurie Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form Cytochrom-c-Oxidase-Mangel, isolierter Aceruloplasminämie HSD10-Krankheit, infantiler Typ Perrault-Syndrom Niemann-Pick-Krankheit Typ C, adulte neurologische Form Kongenitale Muskeldystrophie ohne Intelligenzminderung Kreatin-Transporter-Mangel, X-chromosomaler COG4-CDG Methylcobalamin-Mangel Typ cblDv1 Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel Tay-Sachs-Krankheit, B-Variante, adulte Form Sjögren-Larsson-Syndrom Glycin-Enzephalopathie Epilepsie-Syndrom, infantiles, Amish-Typ Hyperphenylalaninämie, milde Enzephalopathie bei Hypermethioninämie durch Adenosinkinase-Mangel GMPPB-assoziierte Gliedergürtelmuskeldystrophie R19 Pyruvat-Dehydrogenase E1-alpha-Mangel Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ A Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien COASY-Protein-assoziierte Neurodegeneration Hereditäre spastische Paraplegie COG1-CDG Pyruvat-Dehydrogenase-Phosphatase-Mangel Myoklonische Epilepsie, progressive, Typ 3 Canavan-Krankheit Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom FKRP-assoziierte Gliedergürtelmuskeldystrophie R9 CLN5-Krankheit Glutaryl-CoA-Dehydrogenase-Mangel Kombinierter Defekt der oxidativen Phosphorylierung Typ 15 Glycin-Enzephalopathie, infantile Glycin-Enzephalopathie, neonatale Mitochondriale Störungen der oxidativen Phosphorylierung mit unbekanntem Mechanismus Aspartylglukosaminurie Enzephalopathie durch Prosaposin-Mangel Ataxie mit okulomotorischer Apraxie Typ 1 Neuroferritinopathie Pantothenat-Kinase-assoziierte Neurodegeneration Carnitin-Palmitoyl-Transferase IA-Mangel Skelettmuskel-Krankheit Chondrodysplasia punctata, rhizomeler Typ SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4 Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ C Pontozerebelläre Hypoplasie Typ 6 COG8-CDG Motoneuronkrankheit Dopa-sensitive Dystonie Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine Hurler-Syndrom TMEM165-CDG Choreoakanthozytose Peroxisomenbiogenesedefekt Pyruvat-Dehydrogenase E3-Mangel Kongenitale Glykosylierungsstörung mit neurologischer Beteiligung Neurodegeneration mit Eisenspeicherung im Gehirn Pyruvat-Dehydrogenase E2-Mangel Phenylketonurie, milde Periodische Paralyse mit später einsetzender distaler motorischer Neuropathie CLN13 disease Lipoic acid synthetase deficiency Childhood-onset spasticity with hyperglycinemia ALG6-CDG ALG8-CDG Mitochondrial oxidative phosphorylation disorder MOGS-CDG Kufor-Rakeb syndrome Infantile cerebellar-retinal degeneration Metachromatic leukodystrophy Leukocyte adhesion deficiency type II Mild Canavan disease Multiple sulfatase deficiency SLC35A2-CDG Congenital brain dysgenesis due to glutamine synthetase deficiency Methionine adenosyltransferase I/III deficiency Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Phenylketonuria Hemolytic anemia due to red cell pyruvate kinase deficiency Autosomal recessive dopa-responsive dystonia Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Sandhoff disease, adult form Isolated ATP synthase deficiency CLN9 disease Mucopolysaccharidosis type 2, attenuated form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Combined oxidative phosphorylation defect type 9 Fatal infantile lactic acidosis with methylmalonic aciduria Gamma-aminobutyric acid transaminase deficiency 2-hydroxyglutaric aciduria Metachromatic leukodystrophy, adult form Succinic semialdehyde dehydrogenase deficiency Combined oxidative phosphorylation defect type 14 X-linked adrenoleukodystrophy Neonatal adrenoleukodystrophy GTP cyclohydrolase I deficiency Alpha-mannosidosis Alpha-N-acetylgalactosaminidase deficiency Hartnup disease Salla disease Friedreich ataxia Ataxia with vitamin E deficiency Barth syndrome Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Björnstad syndrome Adrenomyeloneuropathy Mohr-Tranebjaerg syndrome Carnitine-acylcarnitine translocase deficiency Pyruvate dehydrogenase E1-beta deficiency Short chain acyl-CoA dehydrogenase deficiency Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Pyruvate dehydrogenase E3-binding protein deficiency Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Autosomal recessive ataxia due to ubiquinone deficiency Dopamine beta-hydroxylase deficiency SSR4-CDG Pyridoxal phosphate-responsive seizures Combined oxidative phosphorylation defect type 17 Hyperprolinemia type 2 Salt-and-pepper syndrome CADDS Congenital muscular dystrophy with intellectual disability HSD10 disease, neonatal type HSD10 disease, atypical type Hydroxykynureninuria Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Disorder of fatty acid oxidation and ketone body metabolism Disorder of ketolysis Classic pantothenate kinase-associated neurodegeneration Sialidosis type 1 ALG13-CDG Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Mitochondrial membrane transport disorder 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Metabolic disease due to other fatty acid oxidation disorder Niemann-Pick disease type C, severe early infantile neurologic onset Early myoclonic encephalopathy Multiple acyl-CoA dehydrogenase deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Urocanic aciduria Dihydropteridine reductase deficiency STT3B-CDG STT3A-CDG GM3 synthase deficiency Folinic acid-responsive seizures HSD10 disease CLN11 disease Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy, Fukuyama type Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 2-methylbutyryl-CoA dehydrogenase deficiency Fucosidosis Galactosialidosis GM1 gangliosidosis X-linked congenital disorder of glycosylation with intellectual disability as a major feature Congenital disorder of glycosylation with epilepsy as a major feature Hypoxanthine guanine phosphoribosyltransferase partial deficiency Woodhouse-Sakati syndrome Huntington disease CHIME syndrome Sulfite oxidase deficiency due to molybdenum cofactor deficiency Classic phenylketonuria GM1 gangliosidosis type 3 Infantile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis Hyperprolinemia type 1 Sanfilippo syndrome type A Sanfilippo syndrome type C Sanfilippo syndrome type D Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase deficiency type 2 Lipoic acid biosynthesis defect GRACILE syndrome Gaucher disease type 2 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 L-2-hydroxyglutaric aciduria MPDU1-CDG DPM1-CDG Autosomal dominant optic atrophy and cataract ALG12-CDG Congenital muscular dystrophy with intellectual disability and severe epilepsy MGAT2-CDG COG7-CDG B4GALT1-CDG Autosomal dominant dopa-responsive dystonia Rare mitochondrial non-syndromic sensorineural deafness Fatal infantile cytochrome C oxidase deficiency Rhizomelic chondrodysplasia punctata type 2 Congenital neuronal ceroid lipofuscinosis Isolated complex I deficiency Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Muscle-eye-brain disease PLA2G6-associated neurodegeneration RFT1-CDG Rare ataxia Zellweger-like syndrome without peroxisomal anomalies NARP syndrome Autosomal recessive optic atrophy, OPA7 type Pancreatic insufficiency-anemia-hyperostosis syndrome Spastic paraplegia type 7 Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2, classic type Fukutin-related limb-girdle muscular dystrophy R13 POMT2-related limb-girdle muscular dystrophy R14 Pyruvate dehydrogenase deficiency Leukodystrophy PYCR1-related De Barsy syndrome POMT1-related limb-girdle muscular dystrophy R11 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Coenzyme Q10 deficiency ALDH18A1-related De Barsy syndrome Mitochondrial substrate carrier disorder Autosomal recessive spastic paraplegia type 55 Unspecified mitochondrial disorder Exercise intolerance with lactic acidosis Aromatic L-amino acid decarboxylase deficiency Disorder of fatty acid oxidation and ketogenesis 3-hydroxyacyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency Niemann-Pick disease type C, late infantile neurologic onset Temtamy preaxial brachydactyly syndrome Multiple mitochondrial dysfunctions syndrome type 3 Sandhoff disease, infantile form Renal tubulopathy-encephalopathy-liver failure syndrome Pyridoxine-dependent epilepsy Epileptic encephalopathy with global cerebral demyelination Tay-Sachs disease, juvenile form Combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 7 CLN1 disease OBSELETE:Tay-Sachs disease, B1 variant Ethylmalonic encephalopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Mucopolysaccharidosis type 2, severe form CLN2 disease Alpha-mannosidosis, adult form Amyloidosis Autosomal dominant optic atrophy, classic form Guanidinoacetate methyltransferase deficiency Homocystinuria due to cystathionine beta-synthase deficiency ATTRV30M amyloidosis Lesch-Nyhan syndrome Neurological conditions associated with aminoacylase 1 deficiency Mitochondrial membrane protein-associated neurodegeneration Niemann-Pick disease type C, severe perinatal form Fatal infantile encephalopathy-pulmonary hypertension syndrome CLN8 disease X-linked cerebral adrenoleukodystrophy TMEM70-related mitochondrial encephalo-cardio-myopathy Adult-onset myasthenia gravis GM1 gangliosidosis type 1 Isolated complex III deficiency ALG11-CDG Late infantile neuronal ceroid lipofuscinosis Mucopolysaccharidosis type 2 Myasthenia gravis Late-infantile/juvenile Krabbe disease MEGDEL syndrome Intermediate severe Salla disease Adult-onset autosomal recessive sideroblastic anemia Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Infantile neuroaxonal dystrophy ATP13A2-related juvenile neuronal ceroid lipofuscinosis Congenital cataract-hearing loss-severe developmental delay syndrome Gaucher disease type 3 Classic glucose transporter type 1 deficiency syndrome Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome, encephalomyopathic form McLeod neuroacanthocytosis syndrome Hyperphenylalaninemia due to tetrahydrobiopterin deficiency CLN4B disease