SE-ATLAS

Acute necrotizing encephalopathy of childhood Adenosine monophosphate deaminase deficiency Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Autosomal dominant mitochondrial myopathy with exercise intolerance Bifid uvula Cardiomyopathy-hypotonia-lactic acidosis syndrome Cervical spina bifida aperta Cervical spina bifida cystica Cervicothoracic spina bifida aperta Cervicothoracic spina bifida cystica Chronic inflammatory demyelinating polyneuropathy Cleft hard palate Cleft lip/palate Cleft palate Cleft velum Coenzyme Q10 deficiency Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type DNA2-related mitochondrial DNA deletion syndrome FASTKD2-related infantile mitochondrial encephalomyopathy Fatal infantile cytochrome C oxidase deficiency Full NF2-related schwannomatosis Full schwannomatosis Genetic obesity Guillain-Barré syndrome Hereditary myopathy with lactic acidosis due to ISCU deficiency Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Isolated Pierre Robin syndrome Isolated complex I deficiency Isolated complex III deficiency Isolated congenital microcephaly Isolated optic neuritis Isolated succinate-CoQ reductase deficiency Kearns-Sayre syndrome Leigh syndrome Leigh syndrome with cardiomyopathy Leigh syndrome with leukodystrophy Leigh syndrome with nephrotic syndrome Lethal infantile mitochondrial myopathy Lumbosacral spina bifida aperta Lumbosacral spina bifida cystica MELAS MERRF MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect 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 depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA-associated Leigh syndrome Mitochondrial DNA-related mitochondrial myopathy Mitochondrial disease Mitochondrial myopathy Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondrial trifunctional protein deficiency Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Myopathy and diabetes mellitus NMDA receptor encephalitis Neurofibromatosis type 1 Neuromyelitis optica spectrum disorder Open spinal dysraphism Pearson syndrome Progressive external ophthalmoplegia-myopathy-emaciation syndrome Proximal myopathy with extrapyramidal signs Pure mitochondrial myopathy Pyruvate carboxylase deficiency Rare mitochondrial non-syndromic sensorineural deafness STXBP1-related encephalopathy Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Spina bifida and other spinal dysraphisms Spinal dysraphism with a posterior meningocele Submucosal cleft palate Syndromic obesity TMEM70-related mitochondrial encephalo-cardio-myopathy Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica Total spina bifida aperta Total spina bifida cystica Upper thoracic spina bifida aperta Upper thoracic spina bifida cystica