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 Mitochondrial myopathy and sideroblastic anemia Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Mitochondrial neurogastrointestinal encephalomyopathy TMEM70-related mitochondrial encephalo-cardio-myopathy Isolated complex I deficiency Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Pyruvate carboxylase deficiency Syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement Déficit en coenzyme Q10 Syndrome de Leigh avec cardiomyopathie Encéphalomyopathie mitochondriale infantile associée à FASTKD2 Syndrome de Kearns-Sayre Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK Syndrome de Leigh associé à une mutation de l'ADN mitochondrial Myopathie héréditaire avec acidose lactique par déficit en ISCU Syndrome de déplétion de l'ADN mitochondrial, forme encéphalomyopathique avec anomalies craniofaciales variables Syndrome de Leigh Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale