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