SE-ATLAS

Multiple mitochondrial dysfunctions syndrome Combined oxidative phosphorylation defect type 4 6-pyruvoyl-tetrahydropterin synthase deficiency GM1 gangliosidosis type 2 Succinyl-CoA:3-oxoacid CoA transferase deficiency Abetalipoproteinemia Hypotonia with lactic acidemia and hyperammonemia Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Encephalopathy due to sulfite oxidase deficiency Neuromuscular junction disease Free sialic acid storage disease Transient neonatal multiple acyl-CoA dehydrogenase deficiency Pearson syndrome Adult neuronal ceroid lipofuscinosis Mitochondrial DNA maintenance syndrome CLN10 disease Menkes disease Carnitine palmitoyltransferase II deficiency 3-hydroxy-3-methylglutaric aciduria Systemic primary carnitine deficiency Fumaric aciduria CLN4A disease Sanfilippo syndrome type B Tay-Sachs disease Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Peters plus syndrome Atypical glycine encephalopathy OBSOLETE: CLN3 disease Isolated sulfite oxidase deficiency Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Oxoglutaric aciduria Mucolipidosis type IV Chronic diarrhea with villous atrophy Alpha-N-acetylgalactosaminidase deficiency type 1 D,L-2-hydroxyglutaric aciduria Progressive epilepsy-intellectual disability syndrome, Finnish type Beta-propeller protein-associated neurodegeneration Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Medium chain acyl-CoA dehydrogenase deficiency GM2 gangliosidosis, AB variant Spinocerebellar ataxia type 28 Alpers-Huttenlocher syndrome Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Scheie syndrome CLN6 disease Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Mitochondrial disease Hurler-Scheie syndrome Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria ISPD-related limb-girdle muscular dystrophy R20 Rhizomelic chondrodysplasia punctata type 1 Triose phosphate-isomerase deficiency Neuromuscular disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy CLN7 disease SLC35A1-CDG Severe X-linked mitochondrial encephalomyopathy Tangier disease Neurometabolic disease Rhizomelic chondrodysplasia punctata type 3 Monoamine oxidase A deficiency Myopathie liée à GNE Trouble rare de la succion/déglutition Anomalie d'import des protéines mitochondriales Déficit en lipoyl transférase 1 Syndrome de dysfonctionnements mitochondriaux multiples type 2 Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue Maladie de Farber DDOST-CDG Déficit en acyl-CoA déshydrogénase des acides gras à chaîne longue Trouble du cycle de la carnitine et du transport de la carnitine Syndrome de déficit en créatine Déficit en protéine trifonctionnelle mitochondriale Déficit combiné de la phosphorylation oxydative type 11 Anomalie isolée d'un complexe de la phosphorylation oxydative Dystrophie musculaire des ceintures associée à POMGNT1 R15 Neurodégénérescence associée à FA2H Syndrome de dysfonctionnements mitochondriaux multiples type 1 Syndromes myasthéniques congénitaux par défaut de glycosylation Anomalie mitochondriale par défaut d'assemblage ou de maturation des complexes de la chaîne respiratoire Acidurie D-2-hydroxyglutarique Déficit en hypoxanthine-guanine phosphoryl transférase Déficit combiné de la phosphorylation oxydative type 8 Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie Maladie de Krabbe infantile Déficit isolé en succinate-CoQ réductase PMM2-CDG Dystonie due à une mutation de l'ADN mitochondrial Homocystinurie sans acidurie méthylmalonique XYLT1-CDG ALG3-CDG Déficit en 4a-hydroxy-tétrahydrobioptérine déshydratase Atypical pantothenate kinase-associated neurodegeneration Krabbe disease Dopa-responsive dystonia due to sepiapterin reductase deficiency Alpha-mannosidosis, infantile form Neuronal ceroid lipofuscinosis Walker-Warburg syndrome Adult-onset dystonia-parkinsonism ALG2-CDG Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature ALG9-CDG ALG1-CDG GM2 gangliosidosis Adult Krabbe disease Biotin-thiamine-responsive basal ganglia disease Musculocontractural Ehlers-Danlos syndrome Combined oxidative phosphorylation defect type 13 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Infantile Refsum disease Cerebrotendinous xanthomatosis Refsum disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Disorder of energy metabolism Multiple acyl-CoA dehydrogenase deficiency, mild type Beta-ureidopropionase deficiency MAN1B1-CDG Infantile neurovisceral acid sphingomyelinase deficiency Zellweger syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Sandhoff disease, juvenile form De Barsy syndrome Autism spectrum disorder-epilepsy-arthrogryposis syndrome Mitochondrial disorder due to a defect in mitochondrial protein synthesis Mitochondrial DNA depletion syndrome Niemann-Pick disease type C Pyruvate metabolism disorder L-Arginine:glycine amidinotransferase deficiency Wrinkly skin syndrome Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Autosomal dominant optic atrophy and peripheral neuropathy DPAGT1-CDG Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Tay-Sachs disease, infantile form Sandhoff disease FASTKD2-related infantile mitochondrial encephalomyopathy Niemann-Pick disease type C, juvenile neurologic onset Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome COG5-CDG Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Carnitine palmitoyl transferase II deficiency, severe infantile form DPM3-CDG Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Free sialic acid storage disease, infantile form Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 SRD5A3-CDG Carnitine palmitoyl transferase II deficiency, myopathic form Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect Severe Canavan disease Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Carnitine palmitoyl transferase II deficiency, neonatal form Malonic aciduria Isolated cytochrome C oxidase deficiency Aceruloplasminemia Niemann-Pick disease type C, adult neurologic onset Perrault syndrome HSD10 disease, infantile type Congenital muscular dystrophy without intellectual disability X-linked creatine transporter deficiency COG4-CDG Methylcobalamin deficiency type cblDv1 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Tay-Sachs disease, adult form Sjögren-Larsson syndrome Glycine encephalopathy Amish infantile epilepsy syndrome Mild hyperphenylalaninemia Hypermethioninemia encephalopathy due to adenosine kinase deficiency GMPPB-related limb-girdle muscular dystrophy R19 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Pyruvate dehydrogenase E1-alpha deficiency Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies COASY protein-associated neurodegeneration Hereditary spastic paraplegia COG1-CDG Pyruvate dehydrogenase phosphatase deficiency Progressive myoclonic epilepsy type 3 Canavan disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome FKRP-related limb-girdle muscular dystrophy R9 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency McLeod neuroacanthocytosis syndrome Mitochondrial oxidative phosphorylation disorder with no known mechanism CLN5 disease Glutaryl-CoA dehydrogenase deficiency Combined oxidative phosphorylation defect type 15 Infantile glycine encephalopathy Neonatal glycine encephalopathy Intermediate severe Salla disease Aspartylglucosaminuria X-linked cerebral adrenoleukodystrophy Encephalopathy due to prosaposin deficiency Ataxia-oculomotor apraxia type 1 Neuroferritinopathy Pantothenate kinase-associated neurodegeneration Carnitine palmitoyl transferase 1A deficiency Skeletal muscle disease Rhizomelic chondrodysplasia punctata SURF1-related Charcot-Marie-Tooth disease type 4 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Pontocerebellar hypoplasia type 6 COG8-CDG Motor neuron disease Infantile neuroaxonal dystrophy Dopa-responsive dystonia Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Hurler syndrome TMEM165-CDG Choreoacanthocytosis Peroxisome biogenesis disorder Pyruvate dehydrogenase E3 deficiency Congenital disorder of glycosylation with neurological involvement Neurodegeneration with brain iron accumulation Pyruvate dehydrogenase E2 deficiency Mild phenylketonuria Periodic paralysis with later-onset distal motor neuropathy Isolated complex III deficiency 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 Late infantile neuronal ceroid lipofuscinosis Multiple sulfatase deficiency SLC35A2-CDG Congenital brain dysgenesis due to glutamine synthetase deficiency Methionine adenosyltransferase I/III deficiency Mitochondrial DNA-related progressive external ophthalmoplegia 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 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 MEGDEL syndrome Salla disease Friedreich ataxia Ataxia with vitamin E deficiency Barth syndrome Methylcobalamin deficiency type cblE Methylcobalamin-Mangel Typ cbl G Björnstad-Syndrom Adrenomyeloneuropathie Mukopolysaccharidose Typ 2, attenuierte Form Leukodystrophie, metachromatische, juvenile Form Zitronensäurezyklusstörung Pantothenat-Kinase-assoziierte Neurodegeneration, klassische Form Sialidose Typ 1 ALG13-CDG Mitochondriale Störungen der oxidativen Phosphorylierung durch Duplikation der mitochondrialen DNA Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form Störungen der Mitochondrienmembran (Transport) 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel Stoffwechselkrankheit durch Fettsäureoxidationsstörung Niemann-Pick-Krankheit Typ C, schwere früh-infantile neurologische Form Enzephalopathie, frühkindliche myoklonische Mohr-Tranebjaerg-Syndrom Carnitin-Acylcarnitin-Translokase-Mangel Pyruvat-Dehydrogenase E1-beta-Mangel Kurzketten-Acyl-CoA-Dehydrogenase-Mangel Hyperurikämie-pulmonale Hypertension- Nierenversagen-Alkalose-Syndrom Wachstums- und Entwicklungsverzögerung-Hypotonie-Sehbeeinträchtigung-Laktatazidose-Syndrom Ionenkanalkrankheit, muskuläre Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom Pyruvat-Dehydrogenase-E3-bindendes Protein-Mangel Kongenitale Mikrozephalie-schwere Enzephalopathie-progressive zerebrale Atrophie-Syndrom Ataxie, autosomal-rezessive, durch Ubiquinon-Mangel Dopamin-beta-Hydroxylase-Mangel SSR4-CDG Pyridoxalphosphat-abhängige Epilepsie Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 Hyperprolinämie Typ 2 Salt-and-pepper-Syndrom Juvenile neuronale Ceroid-Lipofuszinose, ATP13A2-assoziierte CADDS Kongenitale Muskeldystrophie mit Intelligenzminderung HSD10-Krankheit, neonataler Typ HSD10-Mangel, atypische Form Hydroxykynureninurie Proximale Tubulopathie - Diabetes mellitus - zerebelläre Ataxie Fettsäureoxidationsstörungen und Ketogenesedefekt Ketokörper-Stoffwechselstörung Galaktosialidose GM1-Gangliosidose X-chromosomale kongenitale Glykosylierungs-Krankheit mit Intelligenzminderung als Hauptmerkmal Kongenitale Glykosylierungsstörung mit Epilepsie als Hauptmerkmal Woodhouse-Sakati-Syndrom Huntington-Krankheit CHIME-Syndrom Sulfitoxidase-Mangel durch Molybdän-Cofaktor-Mangel Phenylketonurie, klassische GM1-Gangliosidose Typ 3 Ceroid-Lipofuszinose, neuronale, juvenile Sanfilippo-Krankheit Typ A Alpha-N-Acetylgalactosaminidase-Mangel Typ 3 Alpha-N-Acetylgalactosaminidase-Mangel Typ 2 Liponsäure-Biosynthese-Defekt Gaucher-Krankheit Typ 3 Gaucher-Krankheit Typ 2 Hepatoenzephalopathie durch kombinierten Defekt der oxidativen Phosphorylierung Typ 1 DPM1-CDG Optikusatrophie und Katarakt, autosomal-dominante Form B4GALT1-CDG Dopa-responsive Dystonie, autosomal-dominante Sandhoff-Krankheit, infantile Form Epileptische Enzephalopathie mit globaler zerebraler Demyelinisierung CLN1-Krankheit Tay-Sachs-Krankheit, B1-Variante Ethylmalonsäure-Enzephalopathie Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose Mukopolysaccharidose Typ 2, schwere Form ALG11-CDG Seltene mitochondriale nicht-syndromale sensorineurale Schwerhörigkeit Isolierter Atmungskettendefekt im Komplex I Mukopolysaccharidose Typ 1 Mukopolysaccharidose Typ 3 Muskel-Augen-Gehirn-Krankheit RFT1-CDG Krabbe-Syndrom, spät-infantiles oder juveniles Ataxie, seltene Pyruvat-Dehydrogenase-Mangel Leukodystrophie Sideroblastische Anämie mit Beginn im Erwachsenenalter, autosomal-rezessiv Acyl-CoA-Dehydrogenase-Mangel, multipler TMEM70-abhängige mitochondriale Enzephalokardiomyopathie Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ B Urocanase-Azidurie Dihydropteridinreduktase-Mangel STT3B-CDG STT3A-CDG GM3-Synthase-Mangel Folinsäure-abhängige Anfälle HSD10-Krankheit nkheit Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel Kongenitale Muskeldystrophie mit zerebellärer Beteiligung Muskeldystrophie, kongenitale, Typ Fukuyama Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom Schwere neonatale Laktatazidose durch NFS1-ISD11-Komplex-Mangel 2-Methylbutyryl-CoA-Dehydrogenase-Mangel Fukosidose Optikusatrophie, autosomal-rezessive, Typ 7 Cutis laxa, autosomal-rezessive, Typ 2A Cutis laxa, autosomal-rezessive, Typ 2, klassische POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 Kelley-Seegmiller-Syndrom GM1-Gangliosidose Typ 1 Ceroid-Lipofuszinose, neuronale, infantile Hyperprolinämie Typ I Sanfilippo-Krankheit Typ C Sanfilippo-Krankheit Typ D GRACILE-Syndrom L-2-Hydroxy-Glutarazidurie MPDU1-CDG ALG12-CDG Kongenitale Muskeldystrophie mit Intelligenzminderung und schwerer Epilepsie MGAT2-CDG COG7-CDG Cytochrom-c-Oxidase-Mangel, infantile fatale Form Chondrodysplasia punctata, rhizomele, Typ 2 Ceroid-Lipofuszinose, neuronale, kongenitale Mukopolysaccharidose Typ 2 PLA2G6-assoziierte Neurodegeneration Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom Zellweger-ähnliches Syndrom ohne Anomalien der Peroxisomen NARP-Syndrom Pankreasinsuffizienz - Anämie - Hyperostose Spastische Paraplegie Typ 7 Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 PYCR1-assoziiertes De Barsy-Syndrom POMT1-assoziierte Gliedergürtelmuskeldystrophie R11 Mitochondriale Störungen der oxidativen Phosphorylierung durch umfangreiche Einzeldeletionen der mitochondrialen DNA Coenzym Q10-Mangel DeBarsy-Syndrom, ALDH18A1-abhängiges Störungen der mitochondrialen Substrat-Transporter Spastische Paraplegie, autosomal-rezessive, Typ 55 Mitochondriale Krankheit, unspezifische Belastungsintoleranz mit Laktatazidose Aromatische-L-Aminosäuredecarboxylase-Mangel Störung der Fettsäureoxidation und Ketogenese 3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Acyl-CoA-Dehydrogenase-Mangel Niemann-Pick-Krankheit Typ C, spät-infantile neurologische Form Temtamy präaxiales Brachydaktylie-Syndrom Mitochondriales Dysfunktions-Syndrom, multiples, Typ 3 Renale Tubulopathie-Enzephalopathie-Leberversagen-Syndrom Epilepsie, Pyridoxin-abhängige Tay-Sachs-Krankheit, B-Variante, juvenile Form Kombinierter Defekt der oxidativen Phosphorylierung Typ 2 Kombinierter Defekt der oxidativen Phosphorylierung Typ 7 CLN4B-Krankheit CLN2-Krankheit Alpha-Mannosidose, adulte Form Amyloidose CLN8-Krankheit Guanidinoacetat-Methyltransferase-Mangel Homocystinurie, klassische ATTRV30M-Amyloidose Lesch-Nyhan-Syndrom Enzephalopathie mit assoziiertem Aminoacylase 1-Mangel Mitochondrienmembran-Protein-assoziierte Neurodegeneration Niemann-Pick-Krankheit Typ C, schwere perinatale Form Fatale infantile Enzephalopathie-pulmomale Hypertension-Syndrom Optikusatrophie, autosomal-dominante, klassische Form