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 3-hydroxy-3-methylglutaric aciduria Carnitine palmitoyltransferase II deficiency Systemic primary carnitine deficiency Fumaric aciduria CLN4A disease Sanfilippo syndrome type B Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Tay-Sachs disease 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 CLN6 disease Scheie syndrome Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Hurler-Scheie syndrome Mitochondrial disease ISPD-related limb-girdle muscular dystrophy R20 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Rhizomelic chondrodysplasia punctata type 1 Triose phosphate-isomerase deficiency Neuromuscular disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy CLN7 disease SLC35A1-CDG Tangier disease Severe X-linked mitochondrial encephalomyopathy Neurometabolic disease Rhizomelic chondrodysplasia punctata type 3 GNE myopathy Monoamine oxidase A deficiency Rare sucking/swallowing disorder Lipoyl transferase 1 deficiency Mitochondrial protein import disorder Multiple mitochondrial dysfunctions syndrome type 2 Very long chain acyl-CoA dehydrogenase deficiency Farber disease DDOST-CDG Long chain acyl-CoA dehydrogenase deficiency Disorder of carnitine cycle and carnitine transport Creatine deficiency syndrome Mitochondrial trifunctional protein deficiency Combined oxidative phosphorylation defect type 11 Multiple mitochondrial dysfunctions syndrome type 1 Fatty acid hydroxylase-associated neurodegeneration POMGNT1-related limb-girdle muscular dystrophy R15 Isolated oxidative phosphorylation complex disorder Congenital myasthenic syndromes with glycosylation defect Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes D-2-hydroxyglutaric aciduria Hypoxanthine-guanine phosphoribosyltransferase deficiency Combined oxidative phosphorylation defect type 8 Multiple congenital anomalies-hypotonia-seizures syndrome Infantile Krabbe disease Isolated succinate-CoQ reductase deficiency PMM2-CDG Mitochondrial DNA-related dystonia XYLT1-CDG ALG3-CDG Homocystinuria without methylmalonic aciduria Pterin-4 alpha-carbinolamine dehydratase deficiency Atypical pantothenate kinase-associated neurodegeneration Krabbe disease Alpha-mannosidosis, infantile form Dopa-responsive dystonia due to sepiapterin reductase deficiency 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 Refsum disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Disorder of energy metabolism Multiple acyl-CoA dehydrogenase deficiency, mild type MAN1B1-CDG Beta-ureidopropionase deficiency 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 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Severe Canavan disease Malonic aciduria Carnitine palmitoyl transferase II deficiency, neonatal form Isolated cytochrome C oxidase deficiency Aceruloplasminemia HSD10 disease, infantile type Perrault syndrome Niemann-Pick disease type C, adult neurologic onset 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 Hypermethioninemia encephalopathy due to adenosine kinase deficiency Mild hyperphenylalaninemia 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 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Canavan disease Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome FKRP-related limb-girdle muscular dystrophy R9 CLN5 disease Glutaryl-CoA dehydrogenase deficiency Combined oxidative phosphorylation defect type 15 Infantile glycine encephalopathy Neonatal glycine encephalopathy Aspartylglucosaminuria 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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Pontocerebellar hypoplasia type 6 COG8-CDG Motor neuron disease 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 Pyruvate dehydrogenase E2 deficiency Mild phenylketonuria Periodic paralysis with later-onset distal motor neuropathy 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 Leukocyte adhesion deficiency type II Mitochondrial oxidative phosphorylation disorder with no known mechanism Mild Canavan disease Multiple sulfatase deficiency SLC35A2-CDG Congenital brain dysgenesis due to glutamine synthetase deficiency Methionine adenosyltransferase I/III deficiency 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 Mucopolysaccharidosis type 2, attenuated form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Combined oxidative phosphorylation defect type 9 Fatal infantile lactic acidosis with methylmalonic aciduria 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 Salla disease Friedreich ataxia Barth syndrome Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Björnstad syndrome Adrenomyeloneuropathy Mohr-Tranebjaerg syndrome Carnitine-acylcarnitine translocase deficiency Pyruvate dehydrogenase E1-beta deficiency Short chain acyl-CoA dehydrogenase deficiency Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Autosomal recessive ataxia due to ubiquinone deficiency Dopamine beta-hydroxylase deficiency SSR4-CDG Pyridoxal phosphate-responsive seizures Combined oxidative phosphorylation defect type 17 Hyperprolinemia type 2 Salt-and-pepper syndrome CADDS Congenital muscular dystrophy with intellectual disability HSD10 disease, neonatal type HSD10 disease, atypical type Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Disorder of fatty acid oxidation and ketone body metabolism Disorder of ketolysis Classic pantothenate kinase-associated neurodegeneration Sialidosis type 1 ALG13-CDG Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Mitochondrial membrane transport disorder 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Metabolic disease due to other fatty acid oxidation disorder Niemann-Pick disease type C, severe early infantile neurologic onset Early myoclonic encephalopathy Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Dihydropteridine reductase deficiency STT3B-CDG STT3A-CDG GM3 synthase deficiency Folinic acid-responsive seizures HSD10 disease CLN11 disease Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy, Fukuyama type Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 2-methylbutyryl-CoA dehydrogenase deficiency Galactosialidosis GM1 gangliosidosis X-linked congenital disorder of glycosylation with intellectual disability as a major feature Congenital disorder of glycosylation with epilepsy as a major feature Hypoxanthine guanine phosphoribosyltransferase partial deficiency Woodhouse-Sakati syndrome Huntington disease CHIME syndrome Sulfite oxidase deficiency due to molybdenum cofactor deficiency Classic phenylketonuria GM1 gangliosidosis type 3 Infantile neuronal ceroid lipofuscinosis Hyperprolinemia type 1 Sanfilippo syndrome type A Sanfilippo syndrome type C Sanfilippo syndrome type D Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase deficiency type 2 Lipoic acid biosynthesis defect GRACILE syndrome Gaucher disease type 2 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 L-2-hydroxyglutaric aciduria MPDU1-CDG Autosomal dominant optic atrophy and cataract ALG12-CDG Congenital muscular dystrophy with intellectual disability and severe epilepsy MGAT2-CDG COG7-CDG B4GALT1-CDG Autosomal dominant dopa-responsive dystonia Rare mitochondrial non-syndromic sensorineural deafness Fatal infantile cytochrome C oxidase deficiency Rhizomelic chondrodysplasia punctata type 2 Congenital neuronal ceroid lipofuscinosis Isolated complex I deficiency Mucopolysaccharidosis type 3 Muscle-eye-brain disease PLA2G6-associated neurodegeneration RFT1-CDG Rare ataxia Zellweger-like syndrome without peroxisomal anomalies NARP syndrome Autosomal recessive optic atrophy, OPA7 type Pancreatic insufficiency-anemia-hyperostosis syndrome Spastic paraplegia type 7 Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2, classic type POMT2-related limb-girdle muscular dystrophy R14 Pyruvate dehydrogenase deficiency Leukodystrophy PYCR1-related De Barsy syndrome POMT1-related limb-girdle muscular dystrophy R11 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Coenzyme Q10 deficiency ALDH18A1-related De Barsy syndrome Mitochondrial substrate carrier disorder Autosomal recessive spastic paraplegia type 55 Unspecified mitochondrial disorder Exercise intolerance with lactic acidosis Disorder of fatty acid oxidation and ketogenesis 3-hydroxyacyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency Niemann-Pick disease type C, late infantile neurologic onset Temtamy preaxial brachydactyly syndrome Multiple mitochondrial dysfunctions syndrome type 3 Sandhoff disease, infantile form Renal tubulopathy-encephalopathy-liver failure syndrome Pyridoxine-dependent epilepsy Epileptic encephalopathy with global cerebral demyelination Tay-Sachs disease, juvenile form Combined oxidative phosphorylation defect type 2 CLN1 disease OBSELETE:Tay-Sachs disease, B1 variant Ethylmalonic encephalopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Mucopolysaccharidosis type 2, severe form CLN2 disease Alpha-mannosidosis, adult form Amyloidosis Autosomal dominant optic atrophy, classic form Guanidinoacetate methyltransferase deficiency Homocystinuria due to cystathionine beta-synthase deficiency ATTRV30M amyloidosis Lesch-Nyhan syndrome Neurological conditions associated with aminoacylase 1 deficiency Mitochondrial membrane protein-associated neurodegeneration Niemann-Pick disease type C, severe perinatal form Fatal infantile encephalopathy-pulmonary hypertension syndrome CLN8 disease MEGDEL syndrome Intermediate severe Salla disease X-linked cerebral adrenoleukodystrophy Adult-onset autosomal recessive sideroblastic anemia TMEM70-related mitochondrial encephalo-cardio-myopathy Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Infantile neuroaxonal dystrophy ATP13A2-related juvenile neuronal ceroid lipofuscinosis Congenital cataract-hearing loss-severe developmental delay syndrome Adult-onset myasthenia gravis GM1 gangliosidosis type 1 Isolated complex III deficiency Gaucher disease type 3 ALG11-CDG Late infantile neuronal ceroid lipofuscinosis Mucopolysaccharidosis type 2 Myasthenia gravis Late-infantile/juvenile Krabbe disease Classic glucose transporter type 1 deficiency syndrome Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial DNA depletion syndrome, encephalomyopathic form McLeod neuroacanthocytosis syndrome Hyperphenylalaninemia due to tetrahydrobiopterin deficiency CLN4B disease Gamma-aminobutyric acid transaminase deficiency Ataxia with vitamin E deficiency Multiple acyl-CoA dehydrogenase deficiency SURF1-related Charcot-Marie-Tooth disease type 4 Pyruvate dehydrogenase E3-binding protein deficiency Urocanic aciduria Hydroxykynureninuria Fucosidosis Neurodegeneration with brain iron accumulation Juvenile neuronal ceroid lipofuscinosis DPM1-CDG Metachromatic leukodystrophy Mucopolysaccharidosis type 1 Fukutin-related limb-girdle muscular dystrophy R13 Aromatic L-amino acid decarboxylase deficiency Combined oxidative phosphorylation defect type 7