SE-ATLAS

Spinal dysraphism with a posterior meningocele Full schwannomatosis Open spinal dysraphism Neurofibromatosis type 1 Full NF2-related schwannomatosis Isolated congenital microcephaly NMDA receptor encephalitis Spina bifida and other spinal dysraphisms Upper thoracic spina bifida aperta Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Genetic obesity Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Total spina bifida cystica Cleft lip/palate Isolated Pierre Robin syndrome Lumbosacral spina bifida cystica STXBP1-related encephalopathy Thoracolumbosacral spina bifida cystica Cervicothoracic spina bifida cystica Total spina bifida aperta Mitochondrial disease Cleft hard palate Cleft palate Cervical spina bifida cystica Isolated optic neuritis Lumbosacral spina bifida aperta Thoracolumbosacral spina bifida aperta Submucosal cleft palate Upper thoracic spina bifida cystica Cervicothoracic spina bifida aperta Neuromyelitis optica spectrum disorder Cervical spina bifida aperta Syndromic obesity Chronic inflammatory demyelinating polyneuropathy Guillain-Barré syndrome Bifid uvula Cleft velum Isolated succinate-CoQ reductase deficiency Lethal infantile mitochondrial myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Rare mitochondrial non-syndromic sensorineural deafness Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS MERRF MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Adenosine monophosphate deaminase deficiency Isolated complex III deficiency Progressive external ophthalmoplegia-myopathy-emaciation syndrome Pearson syndrome Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Mitochondrial DNA-related mitochondrial myopathy Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Mitochondrial DNA depletion syndrome, encephalomyopathic form DNA2-related mitochondrial DNA deletion syndrome Autosomal dominant mitochondrial myopathy with exercise intolerance Acute necrotizing encephalopathy of childhood Mitochondrial trifunctional protein deficiency Proximal myopathy with extrapyramidal signs Mitochondrial myopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Pure mitochondrial myopathy Leigh syndrome with leukodystrophy Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Leigh syndrome with nephrotic syndrome Mitochondrial DNA depletion syndrome, hepatocerebral form Fatal infantile cytochrome C oxidase deficiency Myopathy and diabetes mellitus Mitochondriale Myopathie und sideroblastische Anämie Hypertrophe Kardiomyopathie mit Nierenanomalien durch mitochondriale DNA-Mutation Enzephalomyopathie, mitochondriale neurogastrointestinale TMEM70-abhängige mitochondriale Enzephalokardiomyopathie Isolierter Atmungskettendefekt im Komplex I Mitochondriale Störungen der oxidativen Phosphorylierung durch Punktmutation der mitochondrialen DNA Pyruvat-Carboxylase-Mangel Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Coenzym Q10-Mangel Leigh-Syndrom - Kardiomyopathie Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani Kearns-Sayre-Syndrom Multiples mitochondriales DNA-Deletionssyndrom durch DGUOK-Mangel des Erwachsenen Leigh-Syndrom, mitochondriale DNA-assoziiertes Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit variablen kraniofazialen Anomalien Leigh-Syndrom Ophthalmoplegie, chronische externe progressive, mit mitochondrialer Myopathie, adulte Form