Carnitine Deficiency, Systemic Primary |
|
Proximal muscle weakness, Decreased plasma carnitine, Dicarboxylic aciduria, Decreased carnitine ... |
OMIM:212140 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Neck flexor weakness, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... |
ORPHA:457050 |
Gne Myopathy |
|
Muscle fiber inclusion bodies, Shoulder girdle muscle atrophy, Scapular winging, Lower limb amyot... |
ORPHA:602 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Proximal muscle weakness, Gowers sign, Elevated hepatic transam... |
OMIM:610717 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, EEG abnormality, Elevated hepatic transaminase, Dicarboxylic acid... |
OMIM:619355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation, Decreased activity of mit... |
OMIM:616500 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Cardiomyopathy, Distal upper limb muscle weakness, Fatiguable weakness of proximal limb muscles, ... |
ORPHA:63273 |
Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Achilles tendon contracture, Progressive distal muscle weakness, Elevat... |
OMIM:609200 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Wolff-Parkinson-White syndrome, Congestive heart f... |
OMIM:618234 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Ventricular hypertrophy, Cardiomyopathy, Hepatic failure, Elevated circ... |
ORPHA:228305 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Myopathy, De... |
OMIM:618237 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Wolff-Parkinson-White ... |
OMIM:618378 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El... |
OMIM:245400 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Generalized muscle weakness, Elevated circulating ac... |
ORPHA:99901 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Rhabdomyolysis, Decreased activity of mitochondrial ATP synthase com... |
OMIM:618120 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Optic atr... |
ORPHA:26792 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Distal upper limb muscle weakness, Myofiber disarray, Increased variability in muscle fiber diame... |
OMIM:301075 |
Systemic Primary Carnitine Deficiency |
|
Acute encephalopathy, Elevated hepatic transaminase, Muscle weakness, Hepatomegaly, Neck muscle w... |
ORPHA:158 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Proximal muscle weakness, Decreased plasma carn... |
ORPHA:26791 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Proximal muscle weakness, Ele... |
OMIM:255100 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:399058 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Cardiomyocyte hypertrophy, Palpitations, Decreased muscle glycogen conte... |
ORPHA:263297 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy, Decreased activi... |
OMIM:618236 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Decreased activity of mitochondrial complex III, Hypertrophic cardiomyopathy, Decreased activity ... |
OMIM:617184 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in... |
OMIM:613759 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ophthalmoplegia, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Progressive sensor... |
OMIM:540000 |
Myopathy, Distal, 4 |
|
Proximal muscle weakness, Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of th... |
OMIM:614065 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiom... |
OMIM:611126 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Limb-girdle muscle weakness, Generalized muscle weakness, Wrist drop, Weakness of long finger ext... |
ORPHA:98912 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Distal Myopathy, Welander Type |
|
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, EMG: myopathic abnor... |
ORPHA:603 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Reduced left ventric... |
OMIM:614096 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Generalized amyotrophy, Gowers sign, Decreased activity of mitochondrial ATP synth... |
OMIM:609560 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hypotension, Hepatic failure, Elevated circulating acylcarnitine concen... |
ORPHA:159 |
3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, EEG abnormality, Decreased acti... |
ORPHA:505216 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O... |
OMIM:618654 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Creutzfeldt-Jakob Disease |
|
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Optic atrophy, Elevated circulating tiglylglycine concentration... |
OMIM:300438 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Encephalopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Optic... |
OMIM:618229 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepati... |
OMIM:231530 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Sensorineural hearing impairment, Ophthalmoparesis, Dilated cardiomyopathy, Progressive external ... |
ORPHA:1349 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... |
OMIM:606438 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hyperglycinemia, Optic atrophy, Decreased activity of mitochondrial respiratory chain, Dilated ca... |
OMIM:614299 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure, Decreased activity of... |
OMIM:616045 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Neck flexor weakness, Fatty replacement of skeletal mus... |
ORPHA:399103 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Encephalopathy, Cardiomyopathy |
OMIM:615119 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum pyruvat... |
OMIM:246900 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Ophthalmoplegia, Optic atrophy, Elev... |
OMIM:271245 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Abnormal cardiac ventricular function, Increased urine alpha-ketoglutarate conce... |
ORPHA:2394 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy, Decreased activity of mitochondrial complex I, Encephalopathy |
OMIM:618246 |
Chorea, Benign Hereditary |
|
Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Left ventricular hypertrophy, Elevated hepa... |
OMIM:617713 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Proximal muscle weakness, Amyo... |
OMIM:160500 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Poor head control, Encephalopathy |
OMIM:616034 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Encephalopathy |
ORPHA:306550 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Encephalopathy |
OMIM:614741 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Gowers ... |
ORPHA:352470 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Proximal muscle weakness, Elevated urinary 3-hydroxybutyric acid, Fatigabl... |
ORPHA:42 |
Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Urinary urgency, Abnormal mitochond... |
ORPHA:99013 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Elevated hepatic transaminase, Decreased activity of mitochondrial comple... |
OMIM:613561 |
Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Peroneal muscl... |
ORPHA:609 |
Gaucher Disease Type 2 |
|
Flexion contracture, Ophthalmoplegia, Cardiac arrest, Hepatomegaly, Splenomegaly, Encephalopathy |
ORPHA:77260 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:613752 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Encephalopathy, Muscle weakness, Sensorineural hearing impairment, Optic atrophy |
ORPHA:1171 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Elevated h... |
OMIM:612937 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating cr... |
OMIM:232400 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Encephalopathy, Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... |
OMIM:608810 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Sensorineural hearing impairment, Ophthalmoplegia, Methylmalonic acidemia, Decreas... |
OMIM:612073 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
EEG with periodic lateralized epileptiform discharges, Epileptic encephalopathy, Decreased activi... |
ORPHA:477774 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Cardiomyopathy |
OMIM:208750 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Distal upper limb muscle weakness, Cardiomyopathy, Increased variabilit... |
OMIM:619566 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitocho... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Sensorineural heari... |
OMIM:617950 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Abnormal auditory evoked pot... |
OMIM:601382 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... |
OMIM:608358 |
Isolated Complex I Deficiency |
|
Proximal tubulopathy, Sensorineural hearing impairment, Abnormal mitochondria in muscle tissue, H... |
ORPHA:2609 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Decreased activity of mitochondrial ATP synthase complex, 3-Methylglutaconic aciduria, Encephalop... |
OMIM:615228 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... |
OMIM:619902 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... |
OMIM:615395 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment |
ORPHA:401901 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly |
OMIM:610539 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Generalized muscle weakness... |
OMIM:611705 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Shuffling gait, Falls, Inertia, Motor deteriorat... |
ORPHA:412066 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:613657 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Generalized muscle weakness, Hyperglycinemia, Optic atrophy, Arthrogryposis multiplex congenita, ... |
OMIM:615330 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, EEG abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyposp... |
OMIM:618815 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice, Encephalopathy |
OMIM:218800 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... |
OMIM:255120 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased plasma carnitine, Elevated hepatic... |
ORPHA:71212 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Encephalopathy, Hepatomegaly |
OMIM:618224 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Sensorineural hearing impairment, Decreased level of coenzyme Q10 in skeletal mu... |
OMIM:607426 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spinal muscular atrophy, Optic atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Encephalopathy |
OMIM:617207 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration |
OMIM:619191 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:397744 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Achilles tendon contrac... |
OMIM:300696 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Optic atrophy, Supraventricular arrhythmia, Diabetes mellitus, Leg muscle stiffness, Distal lower... |
ORPHA:320360 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Infantile encephalopathy, Infantile sensorineural hearing impairment, Generalized muscle weakness... |
ORPHA:254875 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:608807 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Elevated circulatin... |
OMIM:181350 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia, Hyperammonemia, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Decreased activity of mitochondrial complex I, Encephalopathy, Optic disc pallor |
OMIM:618230 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Encephalopathy, Hepatosplenomegaly |
OMIM:610329 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Abnormal muscle fiber myotilin, ... |
ORPHA:98911 |
Developmental And Epileptic Encephalopathy 97 |
|
Poor head control, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:619561 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Late-onset proximal muscle weakness, Third degree atrioventricular bl... |
OMIM:601419 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Gowers sign |
OMIM:612718 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Sensorineural hearing impairment, Exter... |
ORPHA:225 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Proximal muscle weakness, Generalized amyotrophy, Distal muscle weakness, Bilateral sensorineural... |
ORPHA:275872 |
Barth Syndrome |
|
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Macrotia, Tricuspid regurgitation, Skele... |
OMIM:302060 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hypertrophic cardiomyopath... |
ORPHA:17 |
Combined Malonic And Methylmalonic Acidemia |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic aciduria, Dicarboxylic acidem... |
ORPHA:289504 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Lacticaciduria, Hyperprolinemia, Elevated urina... |
OMIM:619003 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... |
OMIM:615595 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Mitochondrial respiratory chain defects, Renal tubular acidosis, Type 2 muscle f... |
OMIM:615471 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Generalized amyotrophy, EEG abnormality, Absent brainstem audit... |
OMIM:617519 |
Huntington Disease-Like 1 |
|
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait |
OMIM:603218 |
Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Encephalopathy, Epileptic encephalopathy |
OMIM:616341 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Elevated hepatic transaminase, Dilated cardiomyopath... |
ORPHA:263494 |
Developmental And Epileptic Encephalopathy 35 |
|
Encephalopathy, Cardiomyopathy |
OMIM:616647 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Skeletal muscle atrophy, P... |
OMIM:614932 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hyperalaninemia, EEG with burst suppression, Progressive external ophthalmoplegia, Left ventricul... |
OMIM:615917 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Generalized amyotrophy, Dilated cardiomyopathy, Progressive exter... |
ORPHA:352447 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:619048 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... |
ORPHA:370 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Ketonuria, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventr... |
OMIM:619167 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Gowers sign, Type 1 muscle fi... |
OMIM:617336 |
Galactosemia Iii |
|
Aminoaciduria, Sensorineural hearing impairment, Hypergalactosemia, Jaundice, Galactosuria, Hepat... |
OMIM:230350 |
Neuraminidase Deficiency |
|
Sensorineural hearing impairment, Urinary excretion of sialylated oligosaccharides, Increased uri... |
OMIM:256550 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... |
OMIM:601466 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Renal insuffici... |
ORPHA:890 |
Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Non... |
ORPHA:391428 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, I... |
OMIM:602390 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Reduced left ventricula... |
OMIM:611615 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, EEG abnormality, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methyl... |
OMIM:246450 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology, Limb muscle weakness, Encephalopathy, Respiratory i... |
OMIM:618960 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Generalized muscle weakness, Restrictive cardiomyopathy, Proximal muscl... |
OMIM:612954 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Sinus tachycardia... |
OMIM:255160 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Ophthalmoplegia, Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy,... |
OMIM:614458 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairment, Bradykinesia |
ORPHA:240085 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Proximal muscle weakness, Stage 5 chronic kidney disease, Mitochondrial swelling... |
OMIM:618250 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Dementia, Bradykinesia, Anxiety |
OMIM:605909 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Cardiomyopathy |
OMIM:610100 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati... |
ORPHA:369 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Neur... |
OMIM:500013 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Im... |
OMIM:261680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number, ... |
OMIM:619063 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperalaninemia, Lacticaciduria, Hyperprolinemia, Decreased activity of the pyruvate dehydrogenas... |
ORPHA:79246 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Limb-girdle muscle weakness, 3-Methylglutaconic aciduria, Proximal muscle weakness, Rhabdomyolysi... |
OMIM:251900 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Profound static encephalopathy, Sensorineural hearing impairment, Mitochondrial respiratory chain... |
ORPHA:319514 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
ORPHA:86812 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated circulating ... |
ORPHA:157 |
Melas |
|
Recurrent pancreatitis, EEG abnormality, Optic atrophy, Abnormal mitochondria in muscle tissue, W... |
ORPHA:550 |
Leigh Syndrome |
|
Multiple joint contractures, Optic atrophy, Decreased activity of the pyruvate dehydrogenase comp... |
ORPHA:506 |
Developmental And Epileptic Encephalopathy 45 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617153 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Elevated circulating alanine aminotransferase concentration, Generalized muscle weakness, Proxima... |
ORPHA:308552 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Ele... |
OMIM:604765 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weak... |
OMIM:300376 |
Developmental And Epileptic Encephalopathy 60 |
|
EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617929 |
Childhood-Onset Nemaline Myopathy |
|
Fatigable weakness of bulbar muscles, Cardiomyopathy, Flexion contracture, Increased variability ... |
ORPHA:171439 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:612999 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Myofibrillar myopathy, Autophagic vacuoles, Progressive distal muscle wea... |
OMIM:609452 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, EEG abnormality, Atrial septal defect, Hypocholesterolemia, Abnormal renal ... |
OMIM:610883 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Micropenis, Encephalopathy |
OMIM:618810 |
Developmental And Epileptic Encephalopathy 7 |
|
EEG with burst suppression, Epileptic encephalopathy |
OMIM:613720 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
ORPHA:401768 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Macrotia, Decreased LDL cholesterol concentration, Bicuspid aortic valv... |
OMIM:618156 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function, Hearing impairment, Cardiomy... |
ORPHA:67048 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Elevated hepatic transaminase, Decreased activi... |
OMIM:619064 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Optic atrophy, Dila... |
OMIM:610505 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391457 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Ophthalmoplegia, Optic atrophy, Abnormal mitochondria in muscle tissue, Dila... |
OMIM:252011 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... |
OMIM:212138 |
Glycine Encephalopathy |
|
Encephalopathy, Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Gait disturbance, Hypogonadism |
ORPHA:1875 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Epileptic encephalopathy, Hypoplastic left heart, Hypertrophic cardiom... |
OMIM:616276 |
Developmental And Epileptic Encephalopathy 70 |
|
Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy, Poor head control, Low-set ears |
OMIM:618298 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Decreased activity of mitochondr... |
OMIM:604273 |
Developmental And Epileptic Encephalopathy 59 |
|
Poor head control, Hypsarrhythmia, Multifocal epileptiform discharges, Epileptic encephalopathy |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 58 |
|
Hypsarrhythmia, Optic atrophy, Epileptic encephalopathy |
OMIM:617830 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Generalized muscle weakness, Restrictive cardiomyopathy, Type 1 fibers relativ... |
OMIM:619424 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Renal dysplasia, Elbow flexion contracture, Elevated hepatic ... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Multifocal epileptiform discharges, Hepatomegaly, Joint contracture, Splenom... |
OMIM:608540 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Centrally nucleated skeletal muscle fibers, Mitochondrial hyper... |
OMIM:619518 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic... |
ORPHA:171433 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:52430 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, EEG abnormality, Elevated hepatic transaminase, Lacticaciduria, Hepatic steatosis,... |
OMIM:124000 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... |
OMIM:618839 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... |
ORPHA:228308 |
Developmental And Epileptic Encephalopathy 69 |
|
EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy, Arthrogryposis multiplex congenita, Co... |
OMIM:618285 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Progressive encephalopathy |
ORPHA:99852 |
Episodic Ataxia, Type 9 |
|
Paroxysmal vertigo, Encephalopathy, Vertigo |
OMIM:618924 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Increased serum iron, Glucose intolerance, Azoospermia, Hepatocellular... |
OMIM:235200 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Increased total bilirubin, Alaninuria, Elevated hepatic transami... |
OMIM:616299 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Macrotia, Flexion contracture, Proximal tubulopathy, Nephrotic syndrome, Perica... |
OMIM:212065 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... |
OMIM:266510 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitin... |
ORPHA:79159 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Proximal muscle weakness, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular d... |
ORPHA:34515 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... |
OMIM:615751 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Autoph... |
OMIM:609500 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Left ventr... |
OMIM:613642 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Multifocal epileptiform discharges, Congestive heart failure, EEG with abnormally slow frequencie... |
ORPHA:70472 |
Glycogen Storage Disease Ii |
|
Proximal muscle weakness, Sinus tachycardia, Wolff-Parkinson-White syndrome, Elevated circulating... |
OMIM:232300 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Proximal muscle weakness, External ophthalmoplegia, Muscle fiber atrophy, Optic a... |
ORPHA:254886 |
Danon Disease |
|
Proximal muscle weakness, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-Wh... |
OMIM:300257 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Generalized muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Absent muscle dys... |
ORPHA:206546 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Renal dysplasia, Abnormal biliary trac... |
ORPHA:3032 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Flexion contracture, Hypsarrhythmia, Camptodactyly, Encephalopathy |
OMIM:618011 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Syncope... |
ORPHA:276580 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Sensorineural hearing impairment, Generalized amyotrophy, Optic atrophy, Neck muscle weakness, Or... |
OMIM:614707 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Muscular dystrophy, Elevated circulating c... |
OMIM:615352 |
Neutral Lipid Storage Myopathy |
|
Gowers sign, Progressive distal muscle weakness, Elevated hepatic transaminase, Hepatic steatosis... |
ORPHA:98908 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Lacticaciduria, Hypertrophic cardiomyopathy, Hypoglycemia, Hepato... |
OMIM:252010 |
Infantile Refsum Disease |
|
Sensorineural hearing impairment, Optic atrophy, Elevated circulating phytanic acid concentration... |
ORPHA:772 |
Developmental And Epileptic Encephalopathy 62 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617938 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Temporal optic disc pallor, Sensorineural hearing impairment, Optic ... |
ORPHA:1215 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal atrioventricular conduction, Neck flexor weakness, Fatigable weakness of... |
ORPHA:329336 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Limb hypertonia, EEG abnormality, Lacticaciduria, Hearing impairment, Distal amyotrophy, Decrease... |
OMIM:618247 |
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 |
|
Ketonuria, Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hypogl... |
OMIM:615453 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Fatty replacement of skeletal muscle, Proximal muscle weakness, Weakness of... |
ORPHA:329478 |
Sarcosinemia |
|
Infantile sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomyopathy, Peroneal ... |
ORPHA:3129 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
External ophthalmoplegia, Optic atrophy, Muscle weakness, Bilateral sensorineural hearing impairm... |
OMIM:619422 |
Developmental And Epileptic Encephalopathy 53 |
|
Elevated circulating creatine kinase concentration, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617389 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Decreased activity of mitochondria... |
OMIM:615440 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abno... |
ORPHA:3077 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Limb hypertonia, Perimembranous ventricular septal defect, Hyperprolinemia, Card... |
OMIM:619170 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Progressive enc... |
ORPHA:363400 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Cachexia, Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration, Irritability |
OMIM:618093 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Poor head control, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I |
OMIM:618243 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... |
ORPHA:64743 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia, Cardio... |
ORPHA:254857 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Encephalopathy |
OMIM:610090 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric aciduria, Increased urine alpha-ketoglutarate concentration, Increased urine ... |
OMIM:615182 |
Developmental And Epileptic Encephalopathy 15 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:615006 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Multifocal epileptiform discharges, Epileptic encephalopathy, D... |
OMIM:616672 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... |
OMIM:618835 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Ophthalmoplegia, Optic atrophy, Abnormal auditory... |
OMIM:125250 |
Hsd10 Disease |
|
Nonprogressive encephalopathy, Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Abnormal ur... |
ORPHA:391417 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... |
OMIM:611182 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hyperalaninemia, Hyperglycinemia, Ophthalmoparesis, Increased urine alpha-ketoglutara... |
ORPHA:79101 |
Galactosemia |
|
Hepatic failure, Cirrhosis, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice,... |
ORPHA:352 |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Acute encephalopathy |
OMIM:618113 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Encephalopathy, Hypsarrhythmia, Tetralogy of Fallot, Abnormality of mitochondrial metabolism |
ORPHA:88639 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Decreased muscle mass, Sensorineural hearing impairment, External ophthalmoplegia, Oph... |
ORPHA:298 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyri... |
OMIM:605711 |
Lennox-Gastaut Syndrome |
|
Encephalopathy, EEG abnormality, EEG with focal sharp slow waves |
ORPHA:2382 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... |
OMIM:600649 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia, Generalized amyotrophy, Optic atrophy, Vertigo, Muscle weakness, Hypertrophic car... |
ORPHA:79279 |
Developmental And Epileptic Encephalopathy 73 |
|
Flexion contracture, Sensorineural hearing impairment, Epileptic encephalopathy |
OMIM:618379 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... |
OMIM:603471 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Necrotizing encephalopathy |
OMIM:260970 |
Developmental And Epileptic Encephalopathy 31A |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616346 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Infantile encephalopathy, D-2-hydroxyglutaric aciduria, Hypsarrhythmia, Aortic regurgitation, Mus... |
OMIM:600721 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Skeletal muscle steatosis, Generalized muscle weakness, Aminoaciduria, Optic atrophy, Glycosuria,... |
ORPHA:436271 |
Developmental And Epileptic Encephalopathy 63 |
|
Poor head control, Conductive hearing impairment, EEG with generalized epileptiform discharges, E... |
OMIM:617976 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Elevated circulating creati... |
OMIM:609308 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... |
OMIM:616648 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Pericardial effusion, Decreased activity of mitochondrial complex... |
OMIM:614702 |
Aminoacylase 1 Deficiency |
|
Muscle weakness, Bradycardia, Acute encephalopathy, Sensorineural hearing impairment |
OMIM:609924 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentratio... |
OMIM:309930 |
Aicardi-Goutieres Syndrome 2 |
|
Encephalopathy |
OMIM:610181 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Sensorineural hearing i... |
OMIM:258450 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Hepatomegaly,... |
ORPHA:93476 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy... |
OMIM:614654 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Decreased activity of the pyruvate dehydrogenase complex, Hypertrophic... |
OMIM:616277 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Ophthalmoplegia, Optic atrophy, Decreased activity of mitochondrial re... |
ORPHA:255241 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, External ophthalmoplegia, Type II diabetes mellitus, Abnormal v... |
OMIM:520000 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Abnormality of Krebs cycle metabolism, Sensorineural hearing impairment, Hyperal... |
ORPHA:255210 |
Congenital Toxoplasmosis |
|
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hearing impairment |
ORPHA:858 |
Developmental And Epileptic Encephalopathy 38 |
|
Epileptic encephalopathy |
OMIM:617020 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Optic atrophy, Hypoglycemia, Hyper... |
OMIM:614739 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Acute encephalopathy, Hyperglycinemia, Limb hypertonia, Hypoglycemia, Incr... |
OMIM:606054 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: my... |
OMIM:615418 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Sensorineural hearing impairment, Joi... |
ORPHA:456312 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Nephrocalcinosis, J... |
OMIM:613404 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute encephalopathy, Homocitrullinuria, Decreased nerve conduction velocity, Hyperammonemia, Hep... |
OMIM:238970 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Chronic hepatic encephalopathy, Anomalous splenoportal venous system... |
OMIM:271500 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H... |
ORPHA:71 |
Developmental And Epileptic Encephalopathy 107 |
|
Epileptic encephalopathy |
OMIM:620033 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Hyperuricemia, EEG abnormality, Ketonuria, Cardiac arrest, Jaundice, Nonketotic hypo... |
ORPHA:20 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Epileptic encephalopathy |
OMIM:617601 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressu... |
ORPHA:465508 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... |
ORPHA:1667 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Rhabdomyolysis, Type II diabetes mellitus, Elevated hepatic transaminase, Elevated circulating cr... |
ORPHA:79095 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Congenital muscular torticollis, EEG abnormality, Epileptic encephalopathy |
OMIM:612621 |
Developmental And Epileptic Encephalopathy 88 |
|
Hyperglutamatemia, Hypsarrhythmia, Epileptic encephalopathy |
OMIM:618959 |
Cach Syndrome |
|
Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Renal... |
ORPHA:135 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Optic atrophy, Muscular dystrophy, Elevated hepatic t... |
ORPHA:79322 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Elevated hepatic transaminase, Elevated circulating creatine kinase concent... |
OMIM:614921 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrio... |
ORPHA:91130 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neck flexor weakness, Sensorineural hearing impairment, Decreased LDL cholesterol concentration, ... |
ORPHA:96180 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Acute kidney injury, Exercise-induced myoglobinuria, Glycogen accumulation in mus... |
ORPHA:368 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Poor head control, Cardiomyopathy |
OMIM:619651 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasi... |
OMIM:603358 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Epileptic encephalopathy |
OMIM:618512 |
Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy, Decreased liver function, Prolonged neon... |
OMIM:618437 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Joint contracture, Optic atrophy, Epileptic encephalopathy |
OMIM:618324 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure, Hep... |
OMIM:616483 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steato... |
ORPHA:445038 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Hypoplasia of penis, Congestive heart failure, Hypoglycemia, Low-set,... |
ORPHA:2022 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Hepatomegaly, Abnormal circulatin... |
ORPHA:57777 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98853 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture, Encephalopathy, Decreased activity of the pyruvat... |
OMIM:614462 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Sensorineural hearing impai... |
OMIM:616878 |
Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharg... |
ORPHA:79097 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Glutaric Acidemia I |
|
Infantile encephalopathy, Ketonuria, Hypoglycemia, Glutaric aciduria, Hepatomegaly, Elevated circ... |
OMIM:231670 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Proximal muscle weakness, Decreased motor nerve conduction velocity, Distal muscle weakness, Dist... |
OMIM:601596 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Cerebral ischemia, Acute hyperammonemia, Hyperammonemia, Hepatomegaly, Encephalo... |
ORPHA:927 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Encephalopathy |
OMIM:616636 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Congestive he... |
OMIM:266500 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Encephalopathy, EEG abnormality |
ORPHA:71277 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Increased sarcoplasmic g... |
ORPHA:264580 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Ophthalmoplegia, Hyperbilir... |
ORPHA:14 |
Developmental And Epileptic Encephalopathy 12 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:613722 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Encephalopathy |
OMIM:619028 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Poor head control, Hearing impairment, Optic atrophy, Epileptic encephalopathy |
OMIM:617954 |
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 |
|
Hyperlysinemia, Renal tubular acidosis, Decreased plasma carnitine, Abnormal circulating carnitin... |
ORPHA:431361 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Proximal muscle weakness, Progressive hearing impairment, Progressive external ophthalmoplegia, E... |
OMIM:609286 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Sensorineural hearing impairment, Skeletal myopathy, Pancreatitis, Abno... |
ORPHA:565612 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hypoglycemia, Hypospadias, Hyperammonemia, Decreased activity of mitochondrial com... |
OMIM:618253 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, EE... |
OMIM:617873 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hearing impairment, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepa... |
OMIM:252920 |
Glycogen Storage Disease Iv |
|
Cirrhosis, Hepatic failure, Hepatosplenomegaly, Muscle weakness, Skeletal muscle atrophy, Portal ... |
OMIM:232500 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Encephalopathy, Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Sengers Syndrome |
|
Muscle weakness, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Myopathy |
OMIM:212350 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Progressive external ophthalmoplegia, Elevated ci... |
OMIM:615084 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
EEG abnormality, Epileptic encephalopathy |
OMIM:617820 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Congestive heart failure, Hepatomegaly, Cardiomegaly, Splenomegaly, Conjugate... |
OMIM:269920 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Infantile encephalopathy |
ORPHA:263410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Sensorineural hearing impairment, Neonatal hypoglycemia, Muscle weakness, Increa... |
OMIM:619046 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Nephrotic range proteinuria, Ischemic stroke, Cerebral ischemia,... |
ORPHA:1830 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Patent foramen ovale, Renal tubular atrophy, Aminoaciduria, Ventric... |
OMIM:208085 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... |
OMIM:608776 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Generalized muscle weakness, Tricuspid regurgitation, Skeletal myopathy... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Myopathy, Renal hypoplasi... |
OMIM:614922 |
Developmental And Epileptic Encephalopathy 49 |
|
Epileptic encephalopathy, Macrotia, Optic atrophy, EEG abnormality |
OMIM:617281 |
Desminopathy |
|
Sudden cardiac death, Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakn... |
ORPHA:98909 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Tra... |
ORPHA:156 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Proximal muscle weakness, Hand muscle atrophy, Lacticaciduria, Weakness of facial musculature, Di... |
OMIM:618811 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Skelet... |
ORPHA:868 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme... |
ORPHA:98907 |
Developmental And Epileptic Encephalopathy 11 |
|
Epileptic encephalopathy |
OMIM:613721 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Atrioventri... |
ORPHA:85447 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Sensorineural hearing impairment, Renal Fanconi syndrome, Ophthalmoparesis, Optic ... |
OMIM:220110 |
Developmental And Epileptic Encephalopathy 23 |
|
Supravalvular aortic stenosis, Hypsarrhythmia, Abnormal pinna morphology, Epileptic encephalopathy |
OMIM:615859 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid... |
ORPHA:1194 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Flexion contracture, Gowers sign, Elevated circulatin... |
ORPHA:365 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98863 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:119 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
Early Myoclonic Encephalopathy |
|
Hypsarrhythmia, EEG abnormality, Epileptic encephalopathy |
ORPHA:1935 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... |
OMIM:613155 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Encephalopathy, Hyperalaninemia, Increased serum pyruvate, EEG abnormality |
OMIM:617668 |
D-Glyceric Aciduria |
|
Aminoaciduria, Sensorineural hearing impairment, Hypsarrhythmia, Optic nerve hypoplasia, Nonketot... |
OMIM:220120 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Electron transfer flavoprotein-ubiquinone oxidoreduct... |
OMIM:231680 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Muscle flaccidity, Dilated cardiomyopathy |
ORPHA:34587 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Encephalopathy, Low-set ears, Flexion contracture, Posteriorly rotated ears |
OMIM:616281 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Epileptic encephalopathy |
OMIM:615338 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis |
OMIM:607685 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Optic atrophy, Congestive heart failure, Vertigo, Increased hepatic ... |
OMIM:619259 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Nephrotic syndrome, Elevated hepatic transaminas... |
OMIM:619644 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated plasma citrulline, Elevated hepatic transaminase... |
ORPHA:247585 |
Peho-Like Syndrome |
|
Infantile encephalopathy, Hypsarrhythmia, Optic atrophy |
OMIM:617507 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Congestive heart f... |
ORPHA:79083 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Distal muscle weakness, Decreased nerve conduction velocity,... |
OMIM:601455 |
Developmental And Epileptic Encephalopathy 55 |
|
Flexion contracture, Limb hypertonia, Hypsarrhythmia, Multifocal epileptiform discharges, Epilept... |
OMIM:617599 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Epileptic encephalopathy |
ORPHA:85334 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Heart murmur, Jaundice, Congestive heart failure, ... |
ORPHA:615 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Epileptic encephalopathy |
OMIM:619881 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Encephalopathy, External ophthalmoplegia, Decreased activity of mitochondrial complex I, Optic at... |
OMIM:618233 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Decreased activity of mitochondrial ATP synthase co... |
OMIM:614052 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Sensorineural hearing impairment, Ventricular septal defect, Optic atrophy, Atrial... |
OMIM:249270 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Progressive encephalopathy, Nonketo... |
ORPHA:941 |
Mcleod Syndrome |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Rhabdomyo... |
OMIM:300842 |
Galactosemia I |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ... |
OMIM:230400 |
Scleromyxedema |
|
Proximal muscle weakness, Abnormal skeletal muscle morphology, Transient ischemic attack, Abnorma... |
ORPHA:167635 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Optic atrophy, ... |
ORPHA:1177 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hypert... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Methylmalonic aciduria, Skeletal muscle atrophy, Decreased activity of mitochondrial complex I, I... |
OMIM:615578 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Duchenne Muscular Dystrophy |
|
Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy, Elevated circulating crea... |
ORPHA:98896 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Cardiac amyloidosis, Bulbar palsy, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
Perry Syndrome |
|
Inappropriate behavior, Frontotemporal dementia, Akinesia, Suicidal ideation, Weight loss, Apathy... |
OMIM:168605 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Abnormal renal tubule morphology, Decre... |
OMIM:611719 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Gitelman Syndrome |
|
Pericardial effusion, Neoplasm of the pancreas, Palpitations, Tinnitus, Mitochondrial encephalopa... |
ORPHA:358 |
Schilder Disease |
|
Muscle weakness, Encephalopathy, Vertigo |
ORPHA:59298 |
Developmental And Epileptic Encephalopathy 57 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617771 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... |
ORPHA:98855 |
Developmental And Epileptic Encephalopathy 92 |
|
EEG abnormality, Epileptic encephalopathy |
OMIM:617829 |
Hydroxykynureninuria |
|
Hypotension, Renal tubular acidosis, Progressive encephalopathy, Congenital sensorineural hearing... |
ORPHA:79155 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Increased circulating ... |
OMIM:604250 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Arterial occlusion, Optic atrophy, Calcium oxalate nephrolithiasis, Sta... |
ORPHA:416 |
Infantile Krabbe Disease |
|
Optic atrophy, Muscle weakness, Abnormal heart rate variability, Decreased nerve conduction veloc... |
ORPHA:206436 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congesti... |
ORPHA:90970 |
Peroxisome Biogenesis Disorder 9B |
|
Muscle weakness, Sensorineural hearing impairment, Elevated circulating phytanic acid concentrati... |
OMIM:614879 |
Friedreich Ataxia |
|
Optic atrophy, Abnormal EKG, Decreased pyruvate carboxylase activity, Decreased amplitude of sens... |
OMIM:229300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hemolytic-uremic syndrome, Glomerulopathy, M... |
ORPHA:79282 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Vesicoureteral reflux, Generalized muscle weakness, Proximal muscle wea... |
ORPHA:3208 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Gowers sign, Abnormal EKG, Calf mu... |
OMIM:310200 |
Classic Galactosemia |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Encephalopathy |
ORPHA:79239 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Abnormality of the liver, Muscular dystrophy, Hyperhomocystinemia, Elevated h... |
ORPHA:88618 |
Alg1-Cdg |
|
Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morphology, Decreased liver functio... |
ORPHA:79327 |
Developmental And Epileptic Encephalopathy 71 |
|
EEG with burst suppression, Epileptic encephalopathy |
OMIM:618328 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Decreased acti... |
OMIM:604377 |
Developmental And Epileptic Encephalopathy 40 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:617065 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Stress urinar... |
ORPHA:136 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Elevated circulatin... |
OMIM:300280 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Distal upper limb muscle weakness, Neck flexor weakness, Right bundle branch block, Pollakisuria,... |
ORPHA:268 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Hypoglutaminemia, Camptodactyly, Hyperammonemia, Low-set ears, Bradycardia, ... |
OMIM:610015 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Encephalopathy, Hyperammonemia, Hepatomegaly |
OMIM:610678 |
Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Sensorineural hearing impairment, Distal lower limb amyotrophy, Hand muscle... |
ORPHA:101085 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Hyperammonemia, Hepatomegaly, Renal insufficiency, Pancreatitis, Car... |
ORPHA:79312 |
Developmental And Epileptic Encephalopathy 27 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616139 |
Al Amyloidosis |
|
Abnormal autonomic nervous system physiology, Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal... |
ORPHA:85443 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Encephalopathy |
ORPHA:33276 |
Developmental And Epileptic Encephalopathy 26 |
|
Hypsarrhythmia, Epileptic encephalopathy |
OMIM:616056 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy, Epileptic encephalopathy |
OMIM:617933 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
External ophthalmoplegia, Abnormal mitochondrial shape, Optic atrophy, EEG abnormality, Hypsarrhy... |
ORPHA:485421 |
Polymyositis |
|
Abnormal atrioventricular conduction, Proximal muscle weakness, Abnormal mitral valve morphology,... |
ORPHA:732 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|