Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Fatty replacement o... |
OMIM:255100 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Ra... |
ORPHA:457050 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular hepatic steatosi... |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Elevated circulating dodecanoylcarnitine concentration, Elevated ... |
OMIM:619355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch... |
OMIM:616500 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Fatiguable weakness of proximal limb muscles, Respiratory insufficiency due to muscle weakness, I... |
ORPHA:63273 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ... |
OMIM:609200 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Posteri... |
OMIM:618378 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemic encephalopathy... |
ORPHA:228305 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Encephalopathy, Optic atrophy, Flexion contracture, Myopathy, Decreased activity of mitochondrial... |
OMIM:618237 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Hypoglycemia, Elevated circulating crea... |
OMIM:618120 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra... |
OMIM:245400 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic encephalopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentrati... |
ORPHA:26792 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Ventricular tachy... |
ORPHA:263297 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... |
ORPHA:26791 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute encephalopathy, Neck muscle weakness, Muscle w... |
ORPHA:158 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy, Biventricular hypertrophy, Myopathy, Decreased activity of mitochondrial complex I... |
OMIM:618236 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Decreased activity of mitochondrial complex IV,... |
OMIM:617184 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ophthalmoplegia, Rag... |
OMIM:540000 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ... |
ORPHA:98912 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Distal u... |
ORPHA:603 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Generaliz... |
OMIM:614096 |
3-Methylglutaconic Aciduria Type 9 |
|
Decreased activity of mitochondrial ATP synthase complex, Urinary incontinence, Optic atrophy, Hy... |
ORPHA:505216 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
Congenital Myopathy 8 |
|
Distal muscle weakness, Internally nucleated skeletal muscle fibers, Cardiomegaly, Proximal muscl... |
OMIM:618654 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... |
OMIM:609560 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Sensorineural hearing impairment,... |
OMIM:300438 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Left ventricular dias... |
ORPHA:171445 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Bradycardia, Decreased activity of mitochondrial complex I, Hypertr... |
OMIM:618235 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Progressive external ophthalmoplegia, Congestive heart failure, Sensori... |
ORPHA:1349 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Optic atrophy, Enceph... |
OMIM:618229 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic encephalopathy, Myoglobinuria, Dil... |
OMIM:231530 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Poor head control, Decreased activity of mitochondrial respiratory chain, Dilated c... |
OMIM:614299 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:616045 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Decreased mitochondrial number, Multiple joint contractures... |
ORPHA:352470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Encephalopathy |
OMIM:615119 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Elevated circulating aspartate aminotransferase concentration, Hearing impairment, Fiber type gro... |
OMIM:271245 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... |
OMIM:246900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, A... |
ORPHA:2394 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochondrial morphology, Ur... |
ORPHA:99013 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Distal muscle weakness, Tibialis anterior muscle atrophy, Left atrial en... |
OMIM:160500 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hypo... |
ORPHA:254913 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, EEG abnorma... |
OMIM:618815 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies, Encephalopathy |
OMIM:618246 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Ankle weakness, Quadriceps muscle weakness, Peroneal ... |
ORPHA:609 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Poor head control, Elevated circulating asparta... |
OMIM:613752 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Encephalopathy |
ORPHA:306550 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Organic aciduria, Encephalopathy |
OMIM:614741 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Cardiac arrest, Splenomegaly, Ophthalmoplegia, Flexion contracture, Encephalopathy |
ORPHA:77260 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Muscle weakness, Encephalopathy |
ORPHA:1171 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, De... |
OMIM:613561 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal muscl... |
OMIM:612937 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Gowe... |
OMIM:602541 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... |
OMIM:232400 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Encephalopathy |
OMIM:615924 |
Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici... |
OMIM:608810 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
ORPHA:477774 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... |
OMIM:601382 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Progressive external ophthalmoplegia, Elevated circu... |
OMIM:617713 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Sensorineu... |
OMIM:617950 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Poor ... |
ORPHA:2609 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy, D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia |
OMIM:613657 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... |
ORPHA:397744 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia, Encephalopathy |
OMIM:218800 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa... |
ORPHA:59135 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Generalized muscle weakness, Optic atrophy, Decreased activity of mitochondrial complex II, Hyper... |
OMIM:615330 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Encephalopathy |
OMIM:617207 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Recurrent encephalopathy, Ele... |
OMIM:255120 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP synthase complex, Encephalop... |
OMIM:615228 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hepatic... |
ORPHA:71212 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Infantile encephalopathy, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakn... |
ORPHA:254875 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Progres... |
OMIM:607426 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... |
OMIM:300696 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffne... |
ORPHA:320360 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia |
ORPHA:35 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... |
OMIM:608807 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Developmental And Epileptic Encephalopathy 97 |
|
Poor head control, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:619561 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist... |
ORPHA:98911 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Encephalopathy, Hepatosplenomegaly |
OMIM:610329 |
Myopathy, Myofibrillar, 1 |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... |
OMIM:601419 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Encephalopathy |
OMIM:618224 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Decreased activity of mitochondrial complex I, Optic disc pallor, Pancreatitis, Encephalopathy |
OMIM:618230 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, External ophthalmoplegia, Congestive heart fail... |
ORPHA:225 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mit... |
ORPHA:17 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Abnormal mitochondrial morphology... |
ORPHA:275872 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ... |
OMIM:617519 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur... |
ORPHA:289504 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiomyopathy, Pulmonar... |
OMIM:619003 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Progressive external ophthalmoplegia, Decreased mitochondrial number, Elevated circulating creati... |
ORPHA:352447 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Gowers sign, Organic aciduria |
OMIM:612718 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Poor head control, Decreased nerve conduction velocity, Sensorineural he... |
OMIM:614932 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, El... |
OMIM:201475 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy, Enc... |
OMIM:618810 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... |
ORPHA:263494 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Encephalopathy |
OMIM:616647 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Cardiomyopathy, Distal amyotrophy, Distal muscle weakness |
OMIM:610100 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Progressive external ophthalmoplegia, EEG with burst suppression, Decreased activity of mitochond... |
OMIM:615917 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Abnormal pinna morphology, D... |
OMIM:615471 |
Hsd10 Disease, Infantile Type |
|
Poor head control, Hypoglycemia, Nonprogressive encephalopathy, Cardiomegaly, Optic atrophy, Abno... |
ORPHA:391428 |
Developmental And Epileptic Encephalopathy 70 |
|
Poor head control, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy,... |
OMIM:618298 |
Developmental And Epileptic Encephalopathy 30 |
|
Encephalopathy, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616341 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Ventricular hypertrophy, Increased urine succinate level, Hypoglyc... |
OMIM:619048 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur... |
OMIM:230350 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, Cardiomyopathy,... |
OMIM:617336 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy... |
OMIM:619167 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Hypospadias, Posteriorly rotated ears, Increased circulating farnesol conc... |
OMIM:618156 |
Patent Ductus Venosus |
|
Hyperammonemia, Congenital portosystemic venous shunt, Hepatic encephalopathy, Hypergalactosemia,... |
OMIM:601466 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Proximal muscle weakness, Lacticaciduria, Stage 5 chronic kidney disease, Abnormal heart morpholo... |
OMIM:618250 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... |
OMIM:255160 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Abnormal autonomic nervou... |
OMIM:618960 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph... |
OMIM:500013 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:611615 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Hepatic encephalopath... |
ORPHA:890 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Elevated circulating creatine kinase conc... |
OMIM:612954 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Vertigo, Ophthalmoplegia, Left ventricular hyp... |
OMIM:614458 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, H... |
OMIM:619063 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Potocki-Lupski Syndrome |
|
Abnormal renal morphology, EEG abnormality, Hypocholesterolemia, Atrial septal defect, Patent for... |
OMIM:610883 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Centrally nucleated... |
ORPHA:86812 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... |
ORPHA:319514 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:251900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Lacticaciduria, Hyperp... |
ORPHA:79246 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, C... |
OMIM:612999 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:157 |
Developmental And Epileptic Encephalopathy 45 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617153 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Poor head control, Ophthalmoplegia, Optic atrophy, Hyperlysinuria, Decreased plasma free carnitin... |
OMIM:616034 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl... |
OMIM:609452 |
Developmental And Epileptic Encephalopathy 60 |
|
EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617929 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m... |
ORPHA:550 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... |
ORPHA:171439 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:300376 |
Developmental And Epileptic Encephalopathy 59 |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Poor head control, Epileptic encephalopathy |
OMIM:617904 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Proximal Myopathy With Extrapyramidal Signs |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes ... |
ORPHA:401768 |
Developmental And Epileptic Encephalopathy 7 |
|
EEG with burst suppression, Epileptic encephalopathy |
OMIM:613720 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... |
OMIM:619518 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex... |
ORPHA:506 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo... |
OMIM:212138 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ophthalmoplegia, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fi... |
OMIM:252011 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormality of the liver, Abnormal concentration of acylcarnitine in... |
ORPHA:391457 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... |
OMIM:610505 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased activity of mitochondrial co... |
OMIM:619064 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Multifocal epileptiform discharges, EEG with focal epilepti... |
ORPHA:599373 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... |
OMIM:619424 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Epileptic encephalopathy, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Hearing impa... |
ORPHA:67048 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Encephalopathy |
OMIM:605899 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... |
ORPHA:52430 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Multifocal epileptiform discharges, Cardiomyopat... |
OMIM:608540 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont... |
ORPHA:171433 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Flexion contracture, Rena... |
OMIM:604273 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617830 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... |
OMIM:616299 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Decreased activity of mi... |
OMIM:124000 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower limbs, Urin... |
ORPHA:329478 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Fle... |
OMIM:212065 |
Episodic Ataxia, Type 9 |
|
Paroxysmal vertigo, Vertigo, Encephalopathy |
OMIM:618924 |
Developmental And Epileptic Encephalopathy 69 |
|
Hypsarrhythmia, Epileptic encephalopathy, EEG abnormality, Congenital contracture, Arthrogryposis... |
OMIM:618285 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,... |
OMIM:266510 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s... |
ORPHA:98908 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Proximal musc... |
ORPHA:254886 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox... |
ORPHA:34515 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
EEG with abnormally slow frequencies, Congestive heart failure, Decreased activity of mitochondri... |
ORPHA:70472 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di... |
ORPHA:79159 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... |
OMIM:613642 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Bulbar palsy, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, Ne... |
OMIM:614707 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Decreased activity of mitochondrial complex IV, Generalized... |
OMIM:212350 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Congestive heart fa... |
ORPHA:206546 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:300257 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati... |
OMIM:612073 |
Infantile Refsum Disease |
|
Hepatomegaly, Facial palsy, Progressive muscle weakness, Sensorineural hearing impairment, Elevat... |
ORPHA:772 |
Developmental And Epileptic Encephalopathy 62 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617938 |
Hyperekplexia 4 |
|
Flexion contracture, Hypsarrhythmia, Distal arthrogryposis, Camptodactyly, Encephalopathy |
OMIM:618011 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... |
OMIM:615352 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Ragged-red muscle fibers, Decreased acti... |
OMIM:252010 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Abnormal atr... |
ORPHA:329336 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria, EEG abnormality, Distal amyotrophy, Limb hypertonia, Decreased activity of mitoch... |
OMIM:618247 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Diabetes mellitus, Lim... |
ORPHA:1215 |
Sarcosinemia |
|
Peroneal muscle weakness, Optic atrophy, Hypersarcosinemia, Infantile sensorineural hearing impai... |
ORPHA:3129 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
External ophthalmoplegia, Optic atrophy, Bilateral sensorineural hearing impairment, Muscle weakn... |
OMIM:619422 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Posteriorly rotated ears, Elevated circul... |
OMIM:300280 |
Developmental And Epileptic Encephalopathy 53 |
|
Hypsarrhythmia, Elevated circulating creatine kinase concentration, Epileptic encephalopathy |
OMIM:617389 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP... |
OMIM:614053 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, De... |
OMIM:615453 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Ophthalm... |
ORPHA:79101 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Decre... |
OMIM:619170 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Myopathy,... |
ORPHA:363400 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa... |
OMIM:615440 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Decreased activity of... |
ORPHA:324525 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Poor head control |
OMIM:618243 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Epileptic encephalopathy, Prolonged neonatal jaundice |
OMIM:618512 |
Endocardial Fibroelastosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive ... |
ORPHA:2022 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hearing impairmen... |
OMIM:208085 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Optic atrophy, Ophthalmoparesis, Myopathy, Progressive encephalopathy, Hyp... |
ORPHA:254881 |
Developmental And Epileptic Encephalopathy 15 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:615006 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Encephalopathy |
OMIM:610090 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthal... |
ORPHA:254857 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Hearing impairment, Pro... |
OMIM:211530 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Abnormality of mitochondrial metabolism, Hypsarrhythmia, Tetralogy of Fallot, Enc... |
ORPHA:88639 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Increased variability in mus... |
OMIM:125250 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, EEG with focal sharp slow waves, Encephalopathy |
ORPHA:2382 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Increased urine succinate level,... |
OMIM:615182 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:611182 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Multifocal epil... |
OMIM:616672 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sensorineural hearing impairment, ... |
OMIM:620167 |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Acute encephalopathy |
OMIM:618113 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Nonprogressive encephalopathy, Optic atrophy, Abnormal ur... |
ORPHA:391417 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Decreased activity of mitochondrial complex IV, Dilated cardiomyopathy,... |
OMIM:616198 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic... |
OMIM:614739 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, G... |
ORPHA:436271 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Decreased activity of mitochondrial respirator... |
OMIM:605711 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Vertigo, Optic atrophy, Telangiectasia, Generalized amy... |
ORPHA:79279 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Necrotizing encephalopathy |
OMIM:260970 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Decreased ac... |
OMIM:620135 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Elevated jugular venous pressure, Decreased ... |
ORPHA:465508 |
Developmental And Epileptic Encephalopathy 73 |
|
Sensorineural hearing impairment, Flexion contracture, Epileptic encephalopathy |
OMIM:618379 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, Poor head control, EEG with generalized epileptiform discharges, E... |
OMIM:617976 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca... |
ORPHA:93476 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Elevated c... |
OMIM:258450 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, External ophthalmoplegia, Sensorineural hearing impairment, Vertigo... |
OMIM:520000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, External ophthalmoplegia, De... |
OMIM:615838 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Acute encephalopathy, Bradycardia, Muscle weakness |
OMIM:609924 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Decreased activi... |
OMIM:614702 |
Aicardi-Goutieres Syndrome 2 |
|
Encephalopathy |
OMIM:610181 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Abnormality of Krebs cyc... |
ORPHA:255210 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro... |
OMIM:309930 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Infantile encephalopathy, Aortic regurgitation, Glutaric aciduria, Hypsarrhythmia, Cardiomyopathy... |
OMIM:600721 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hearing impairment |
ORPHA:858 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Decreased nerve conduction velocity, Hyperammonemia, Hyperornithinemia, Acute encep... |
OMIM:238970 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Diabetes mellitus, Distal muscle weaknes... |
ORPHA:456312 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Decreased activity of the py... |
OMIM:616277 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyp... |
OMIM:606054 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk... |
OMIM:614654 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Campto... |
ORPHA:1194 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Chronic hepatic encephalop... |
OMIM:271500 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Epileptic encephalopathy |
OMIM:617601 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
EEG abnormality, Torticollis, Congenital muscular torticollis, Epileptic encephalopathy |
OMIM:612621 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M... |
ORPHA:71 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, De... |
ORPHA:276575 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Poor head control |
OMIM:619651 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, Increased urine succinate lev... |
OMIM:606812 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur... |
ORPHA:20 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
EEG with focal slow activity, Multifocal epileptiform discharges, Encephalopathy |
ORPHA:209370 |
Cach Syndrome |
|
Flexion contracture, Optic atrophy, Renal hypoplasia, Nonketotic hyperglycinemia, Hepatosplenomeg... |
ORPHA:135 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre... |
ORPHA:96180 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Developmental And Epileptic Encephalopathy 107 |
|
Epileptic encephalopathy |
OMIM:620033 |
Developmental And Epileptic Encephalopathy 88 |
|
Hyperglutamatemia, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:618959 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy, Cardiomyopathy, Decre... |
OMIM:618437 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia, Hyperal... |
ORPHA:927 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:616878 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c... |
ORPHA:368 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Sensorineur... |
OMIM:249270 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ... |
OMIM:614462 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of the mi... |
ORPHA:91130 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... |
ORPHA:264580 |
Developmental And Epileptic Encephalopathy 12 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:613722 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Decreased activity of mitochondrial complex I, EEG abnormality, Decreased activity of mitochondri... |
OMIM:617873 |
Glutaric Acidemia I |
|
Infantile encephalopathy, Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circ... |
OMIM:231670 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Joint contracture, Optic atrophy, Epileptic encephalopathy |
OMIM:618324 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... |
ORPHA:445038 |
Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Encephalopathy, Optic atrophy, Multifocal epileptiform discharg... |
ORPHA:79097 |
Ravine Syndrome |
|
Progressive encephalopathy, Abnormal auditory evoked potentials |
ORPHA:99852 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... |
OMIM:601596 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Hep... |
OMIM:616483 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure... |
ORPHA:276556 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Diabetes mellitus, Proximal muscle weakness, Progressive mu... |
OMIM:609286 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Hearing impairment |
OMIM:620270 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Encephalopathy |
OMIM:616636 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Macrotia, Encephalopathy |
OMIM:617268 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Poor head control, Optic atrophy, Hearing impairment, Epileptic encephalopathy |
OMIM:617954 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... |
ORPHA:14 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
EEG abnormality, Encephalopathy |
ORPHA:71277 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth... |
OMIM:232500 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Splenomegaly, Sensorineural hearing impairment, Hyperprolinemia, Cardio... |
OMIM:619046 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Elevated circulating ph... |
OMIM:266500 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphr... |
ORPHA:868 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... |
OMIM:269920 |
Progressive Myoclonic Epilepsy With Dystonia |
|
EEG with irregular generalized spike and wave complexes, Optic atrophy, Epileptic encephalopathy |
ORPHA:352596 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Decreased... |
ORPHA:431361 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hypoglycemia, Optic atrophy, Hyperammonemia, Decreased activity of mitochondrial com... |
OMIM:618253 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Infantile encephalopathy |
ORPHA:263410 |
Desminopathy |
|
Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc... |
ORPHA:98909 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Jaundice, Hepatic fail... |
ORPHA:79239 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Facial ... |
OMIM:615084 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Progressive distal muscle weakness, Congestive heart failure, Generalize... |
ORPHA:746 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Encephalopathy |
OMIM:619028 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Encephalopathy |
ORPHA:357225 |
Developmental And Epileptic Encephalopathy 11 |
|
Epileptic encephalopathy |
OMIM:613721 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Epileptic encephalopathy, Abnormal cardia... |
OMIM:608776 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Lacticaciduria, Distal amy... |
OMIM:618811 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... |
ORPHA:156 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Epileptic encephalopathy |
OMIM:617820 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Gowers sign, Flexion contractur... |
ORPHA:365 |
Developmental And Epileptic Encephalopathy 23 |
|
Supravalvular aortic stenosis, Abnormal pinna morphology, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:615859 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, S... |
OMIM:220110 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensor... |
ORPHA:98907 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Muscle flaccidity, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l... |
OMIM:613155 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Gowers sign, Cardiomyopathy, Myopathy, Calf m... |
ORPHA:119 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, EEG abnormality, Encephalopathy |
OMIM:617668 |
Developmental And Epileptic Encephalopathy 55 |
|
Poor head control, Flexion contracture, Multifocal epileptiform discharges, Hypsarrhythmia, Epile... |
OMIM:617599 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle... |
OMIM:601455 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Early Myoclonic Encephalopathy |
|
EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy |
ORPHA:1935 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Electron tran... |
OMIM:231680 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... |
ORPHA:79083 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy, 3-Methylglutaconi... |
OMIM:619259 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy |
OMIM:607685 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Flexion contracture, Posteriorly rotated ears, Low-set ears, Encephalopathy |
OMIM:616281 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Decreased activity of mitochondrial complex I, External ophthalmoplegia, Optic atrophy, Encephalo... |
OMIM:618233 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
D-Glyceric Aciduria |
|
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemi... |
OMIM:220120 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Peho-Like Syndrome |
|
Infantile encephalopathy, Optic atrophy, Hypsarrhythmia |
OMIM:617507 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalize... |
ORPHA:1177 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
ORPHA:98896 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Epileptic encephalopathy, Situs inversus totalis |
OMIM:619881 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Decreased activity of mitochondrial ATP synthase complex, Hypospadias, Cryptorchidism, Hyperammon... |
OMIM:614052 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Epileptic encephalopathy |
ORPHA:85334 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Epileptic encephalopathy |
OMIM:615338 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... |
ORPHA:615 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Hypergl... |
ORPHA:941 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, External op... |
ORPHA:485421 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Scleromyxedema |
|
Distal muscle weakness, Transient ischemic attack, Elevated circulating creatine kinase concentra... |
ORPHA:167635 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Bulbar palsy, Cardiomyopathy, Nephrotic syndrome, Cardiac amyloidosis |
OMIM:105120 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Poor head control, Skeletal muscle atrophy, Abnormal atrioventricul... |
ORPHA:3208 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:310200 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephro... |
ORPHA:416 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Congenital sensorineural hearing impa... |
ORPHA:79155 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... |
ORPHA:79086 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act... |
OMIM:611719 |
Developmental And Epileptic Encephalopathy 57 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617771 |
Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Decreased pyruvate carb... |
OMIM:229300 |
Schilder Disease |
|
Vertigo, Muscle weakness, Encephalopathy |
ORPHA:59298 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... |
ORPHA:358 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Poor head control, Decreased nerve conduction vel... |
ORPHA:206436 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... |
ORPHA:136 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Nephro... |
ORPHA:79327 |
Developmental And Epileptic Encephalopathy 92 |
|
EEG abnormality, Epileptic encephalopathy |
OMIM:617829 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Hypospadias, Abnormal pinna morphology, Cryptorchidi... |
ORPHA:79324 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventrat... |
ORPHA:66634 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi... |
ORPHA:79282 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Hyperammonemia, Cardiomyopathy, P... |
ORPHA:79312 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Proximal muscle weakness in upper limbs... |
ORPHA:101085 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... |
OMIM:614922 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Poor head control, Elevated circulating creatine kinase concentrat... |
ORPHA:88618 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Skeletal muscle atrophy, El... |
OMIM:619743 |
Developmental And Epileptic Encephalopathy 33 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Epileptic encephalopathy |
OMIM:618328 |
Developmental And Epileptic Encephalopathy 40 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617065 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Low-set ears, Camptodactyly, ... |
OMIM:610015 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Myofiber disarray, Decreased activity of ... |
OMIM:604377 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, El... |
ORPHA:268 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Decreased activity of mitochondrial co... |
OMIM:618228 |
Developmental And Epileptic Encephalopathy 26 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616056 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Poor head control, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Limb hyperto... |
ORPHA:442835 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Abnormality of the liver, Hypoalbuminemia, Hepatom... |
ORPHA:85443 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia, Encephalopathy |
OMIM:610678 |
Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 27 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616139 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrop... |
ORPHA:171 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:609015 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Epileptic encephalopathy, Darwin tubercle of helix, Type 1 muscle fiber predom... |
OMIM:612949 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|