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