Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
superoxide dismutase 2, mitochondrial
Synonyms:
manganese superoxide dismutase,  manganese SOD,  Sod-2,  MnSOD

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sod2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sod2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... OMIM:613286
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Inability to walk, Iron accumulation in substantia nigra, Reti... OMIM:619389
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Neutral Lipid Storage Disease With Myopathy
Myalgia, Hepatomegaly, Exercise intolerance, Short stature, Generalized hypotonia, Elevated circu... OMIM:610717
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Hepatomegaly, Metabolic acidosis, Left ventricular hypertrophy, ... OMIM:619048
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, ... OMIM:610951
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Death in childhood, Dilated cardiomyopathy, Death in infancy OMIM:618189
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Rod-cone dystrophy, Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Gait di... ORPHA:1178
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Methylmalonic Aciduria, Cblb Type
Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Methylmalonic aciduria,... OMIM:251110
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Methylmalonic Aciduria, Cbla Type
Ketonuria, Neutropenia, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Methylmalonic aciduria,... OMIM:251100
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ataxia, Hepatomegaly, Hepatic failure, Segmental peripheral demyelination/remyelination, I... ORPHA:255210
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Retinal dysplasia, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615771
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Fatigue, Shoulder girdle muscle weakness... OMIM:619477
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Increased serum lactate, Elevated circulating aspartate aminotr... OMIM:615395
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Lacticaciduria, Metabolic acidosis, Increased serum lactate, Elevate... OMIM:619386
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Ataxia, Abnormality of retinal pigmentation, Cerebellar hypoplasia ORPHA:2246
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Axonal degeneration, Babinski sign, Tremor, Difficulty walking, Distal lower limb am... OMIM:302800
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:302045
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Short stature, Babinski sign, Pigmentary retinopathy, Peripheral axonal neuropa... OMIM:619090
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduri... OMIM:277410
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hypertonia, Intrauterine growth retardation, In... ORPHA:26792
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hypopigmentation of... ORPHA:33445
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Babinski sign, Pigmentary retinop... OMIM:164500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Short stature, Left ventricular noncompaction, Myoclonus, Babinski sign, Truncal ataxia, ... OMIM:252011
Leigh Syndrome
Status epilepticus, Multiple joint contractures, Ataxia, Hepatic failure, Infantile spasms, Chore... ORPHA:506
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Loss of ambulation, Limb at... OMIM:208920
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... ORPHA:98856
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Intrauterine growth retardation, Infantile muscular hypotonia, Elevated lactate:pyru... OMIM:245400
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Nonprogressive cerebellar ataxia, Optic a... OMIM:610198
Sengers Syndrome
Exercise intolerance, Increased serum lactate, Generalized hypotonia, Fatigue, Exercise-induced l... OMIM:212350
Macrophagic Myofasciitis
Myalgia, Fatigue, Arthralgia ORPHA:592
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Exercise intolerance, Metabolic acidosis, Left ventricular hype... OMIM:617713
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Hypoplasia of the pons,... OMIM:618276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sen... OMIM:604484
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Micronodular cirrhosis, Hepatic failure, Jaundice, Hypothermia, Hyperbilirubinemia,... OMIM:251880
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic glycogen content, Ci... ORPHA:369
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract... OMIM:551500
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Neutropenia, Metabolic acidosis, Hypomethioninemia, Methylmalonic aciduria,... OMIM:277400
Hsd10 Disease, Neonatal Type
Abnormal enzyme/coenzyme activity, Abnormal concentration of acylcarnitine in the urine, Metaboli... ORPHA:391457
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Atrial septal defect, Episodic tachypnea, Hyperammonemia, Metabolic aci... OMIM:615160
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Dpm3-Cdg
Elevated creatine kinase after exercise, Calf muscle hypertrophy, Muscular dystrophy, Pelvic gird... ORPHA:263494
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Increased serum lactate, Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5... OMIM:618250
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... OMIM:210000
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, Abdominal pain, Splenomegaly, Pallor, Red... ORPHA:90039
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Foot... OMIM:618811
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Fatigue, Short stature OMIM:618573
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Intrauterine growth retardation OMIM:618097
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated lactate:pyruvate ratio, Metabolic acidosis, Increased s... OMIM:614582
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Generalized hypotonia, Hyp... OMIM:239200
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Sudden cardiac death, In... ORPHA:99901
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor we... OMIM:614436
Mitochondrial Myopathy With Diabetes
Ataxia, Type II diabetes mellitus, EMG: myopathic abnormalities, Babinski sign, Elevated circulat... OMIM:500002
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611615
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Thalamic calcification, Babinski sign, Parkinsonism, Rigid... OMIM:618824
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Hepatomegaly, Myoclonus, Optic atrophy, Dilated cardiomyopathy, Spasticity, Hypertrophic ... OMIM:614299
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Metabolic acidosis, Increased serum lactate, Macrovesicular hepatic steatosis, Hype... OMIM:618234
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Acidosis, Leukocytosis, Lower limb pain, Pallor, Absent ankle pulse... ORPHA:90064
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Elevated circulating C-reactive protein concentratio... ORPHA:93672
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular ... ORPHA:370
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Cardiomyopathy, Dilated, 2E
Death in childhood, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Death in infa... OMIM:619492
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Abnormality of retinal pigmentation ORPHA:2579
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... OMIM:617862
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, B... ORPHA:98755
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Ataxia, Chorea, Abnormal brainstem morphology, Optic atrophy, Spasti... ORPHA:70474
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Short stature, Ventricular septal defect, Dilated cardiomyop... ORPHA:2515
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Metabolic acidosis, Generalized hypotonia, Lactic acidosi... OMIM:246900
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Abnormal brains... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... OMIM:612937
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Cerebellar atrophy, Retinal dystrophy OMIM:614706
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventr... OMIM:620011
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Facial hypotonia, Increased endomysial connective tissue, Inability to walk, Reduced vital capaci... ORPHA:266
Myopathy, Distal, 1
Myalgia, Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Toe extensor ... OMIM:160500
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Hypertonia, Short stature, Abnormality of Krebs... ORPHA:31
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Exercise intolerance, Generalized hypotonia, L... OMIM:611126
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Brain atrophy, Increased variability in muscle fiber diameter, Redu... OMIM:164310
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Acute hepatic failure, Elevated creatine kinase after ... ORPHA:423
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... ORPHA:70589
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... ORPHA:370022
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Hypoglycemia, Hepatomegaly, Increased serum lactate OMIM:615158
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated urinary 4-hydroxybutyric acid, Hype... OMIM:619003
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Abnormal cerebellum morphology, Impaired vibration sensation in the ... ORPHA:320360
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Exercise intolerance, Sudden cardiac death, Elevated circulating aspartate aminotra... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Ataxia, Status epilepticus, Splenomegal... OMIM:619046
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Hepatomegaly, Increased serum lactate, Increased serum pyruvate, Elevated circ... OMIM:500009
Combined Oxidative Phosphorylation Deficiency 44
Cerebral atrophy, Increased serum lactate, Seizure, Hypertrophic cardiomyopathy, Slurred speech OMIM:618855
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Myoglobinuria, Genera... OMIM:231530
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Fatigue,... ORPHA:156
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Right ventricular hypertrophy, Hypertrophic cardiomyopathy, Left ventricular h... ORPHA:444013
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Fatigue, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperur... OMIM:306000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Pallor, Persistence of hemoglobin F, Anemia ORPHA:46532
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Myalgia, Hepatomegaly, Episodic abdominal pain,... ORPHA:228305
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Ataxia, Clonic seizure, Intention tremor, Left... OMIM:614458
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Short stature, Abnormal pyramidal sign, Optic atrophy, Tr... OMIM:614947
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Rod-cone dystrophy, Short stature, Retinal pigment epithelial ... ORPHA:644
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Nemaline Myopathy 2
Apnea, Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber d... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Increased serum lactate, Increased serum pyruva... OMIM:300816
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Galactosemia I
Hyperchloremic metabolic acidosis, Decreased liver function, Increased level of galactitol in uri... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 32
Metabolic acidosis, Failure to thrive, Respiratory insufficiency, Increased serum lactate OMIM:618252
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, R... OMIM:261680
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Fever, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Metabolic acidosis, Pallor, Organ... OMIM:246450
Combined Oxidative Phosphorylation Deficiency 36
Myalgia, Exercise intolerance, Increased serum lactate, Premature skin wrinkling, Elevated circul... OMIM:617950
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, 3-Methylglutaric aciduria, Metabolic acidosis, Spasticity, Hyperuricemia, Cardiac a... ORPHA:20
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Short stature, Retinal detachment, Cerebel... OMIM:251270
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Metabolic acidosis, Increased serum lactate, Generalized hypotonia, Neonatal... OMIM:618237
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Exercise intolerance, Generalized hypotonia, Elevated circulating c... OMIM:255100
Liberfarb Syndrome
Retinal degeneration, Short stature, Retinal pigment epithelial mottling, Optic disc pallor, Bone... OMIM:618889
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly, Pigmentary retinopathy OMIM:609016
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... OMIM:614480
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Exercise-induced myalgia, Elevated circul... ORPHA:42
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:610245
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia, Cardiomyopathy, Hypotonia OMIM:613657
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrauterine growth retardation, Generalized hypotonia, Elevated hepati... OMIM:617093
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Acute Liver Failure
Hepatocellular necrosis, Acidosis, Hypocapnia, Hyperammonemia, Abnormal respiratory system physio... ORPHA:90062
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Increased serum lactate, Left ventricular hypertrophy, Generalized hypo... OMIM:616974
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular ... ORPHA:264580
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Spast... ORPHA:385
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Hepatomegaly, Rod-cone dystrophy, Babinski sign, Pigmentary retinopathy, Optic atroph... OMIM:264470
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Elevated circulati... OMIM:604286
Neuroferritinopathy
Iron accumulation in substantia nigra, Babinski sign, Chorea, Difficulty walking, Resting tremor,... ORPHA:157846
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum lactate, Increased serum pyruvate, Respiratory insufficienc... ORPHA:238329
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal cerebellum morphology, Cerebral atrophy, Increased serum lactate, Spa... ORPHA:255182
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Metabolic acidosis, Increased serum lactate, Lactic... OMIM:614702
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Short stature, Retinal dystrophy, Congenital hepatic... ORPHA:3156
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Cerebral atrophy, Dysmetria, Limb ataxia, Fl... ORPHA:135
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Clumsiness, Inability to walk, Cerebral atrophy, Focal impaired awareness seizure, Genera... ORPHA:1947
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Ankle clonus, Central retinal vess... ORPHA:506353
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Short stature, Metabolic acidosis,... OMIM:248360
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, ... OMIM:619903
Beta-Thalassemia
Cholelithiasis, Abnormality of temperature regulation, Abnormal hemoglobin, Hepatomegaly, Splenom... ORPHA:848
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Cerebral atrophy, Retinal degeneration, Myoclonus, Increased extraneuronal autofluorescen... OMIM:204500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Retinopathy, Abnormal pyramidal sign, Parkinsonism, Rigidity,... ORPHA:216873
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Myofibrillar myopa... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Dysmetria, Dysdi... ORPHA:96
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Metabolic acidosis, Increased serum lactate, Cyanosis, L... ORPHA:91130
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Myalgia, Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps... ORPHA:206546
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance OMIM:300660
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Failure to thrive, Ataxia, Inability to walk, Spastic paraparesis, Abnormal brai... ORPHA:254930
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent... OMIM:613404
Polymyositis
Abnormal mitral valve morphology, Hepatomegaly, Myocardial infarction, Gastrointestinal hemorrhag... ORPHA:732
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Exercise intolerance, Increased serum lactate, Lactic acidosi... OMIM:613561
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Loss of ambulation, Retinal degeneration, Macular degeneration, R... OMIM:204200
Dilated Cardiomyopathy With Ataxia
Intrauterine growth retardation, Neonatal hypotonia, Microvesicular hepatic steatosis, Hypoplasia... ORPHA:66634
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Exercise intolerance, Hyperammonemia, Short stature, Elevated circulating creatine kinase concent... OMIM:618120
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Small for gestational age, Axonal degener... OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Impaired distal tactile sensation, Peripheral axonal neuropathy, Gait disturbance, Elevated hepat... OMIM:618400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Impaired vibratory sensation, Increased serum lactate, Myo... ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 1
Hypertonia, Fulminant hepatic failure, Hepatomegaly, Elevated lactate:pyruvate ratio, Metabolic a... OMIM:609060
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Generalized hypotonia, Endocardial ... OMIM:212140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly, Increased serum lactate, Increased serum pyruvate, Organic ac... OMIM:614741
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Ge... OMIM:300580
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent uri... ORPHA:93598
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebral cortical atrophy, Myoclonic seizure, Cerebellar hypoplasia, A... OMIM:619072
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Increased variability in muscle fiber diamete... OMIM:619065
Friedreich Ataxia
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired vibratory sensation, B... OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Increased serum lactate, Ankle clonus, Respiratory insufficiency, Increased serum pyruvate... OMIM:618222
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Hepatomegaly, Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal s... ORPHA:79279
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Reduced FEV1/FVC ratio, Elevated circulating C-reactive protein concent... ORPHA:70591
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Progressive cerebellar ataxia, Hypermyelinated retinal nerve fibers, Babinski sign, Diffi... ORPHA:98
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Increased serum lactate, Increased serum pyruvate, Myoclon... OMIM:545000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Neonatal hypotonia, Tricuspid regurgitation, Metabolic acidosis, Left ventricular no... OMIM:616501
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Acute infectious pneumon... ORPHA:264675
Leishmaniasis
Recurrent fever, Night sweats, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Fatigue, Abnormal ... ORPHA:507
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Retinal degeneration, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar at... OMIM:256731
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Fatigue, Abnormality of iron homeostasis, Elevated hepatic transaminase, An... ORPHA:75563
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Increased serum lactat... OMIM:619054
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Ataxia, Hypocalcemia, Hepatic failure, Crackles, Elevated circulating c... ORPHA:466650
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Elevated circulating creatine kinase concentration... OMIM:605820
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating ... OMIM:600649
Primary Myelofibrosis
Hepatomegaly, Flank pain, Low-grade fever, Pancytopenia, Constitutional symptom, Fever, Splenomeg... ORPHA:824
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Hyperammonemia, E... OMIM:201475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Metabolic acidosis, Ventricular septal defect, Increased circulating free fatty aci... ORPHA:26793
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Focal T2 hyperintense thalamic lesion, Clumsiness, Episodic tachypnea, P... ORPHA:79264
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pancreatitis, Metabolic acidosis, Diabetic ketoacidosis, Pneumonia, Hyp... ORPHA:70578
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular dilatation, Tricus... OMIM:619705
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Short stature, Pallor, Splenomegaly, Anisocytosis,... OMIM:615631
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Metabolic acidosis, Increased serum lactate, Generalized hypoto... OMIM:611719
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Rod-cone dystrophy, Intention tremor, Pigmentary retinopathy, Hemiparesis, Tremor, Spasti... OMIM:614307
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Respi... OMIM:615486
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated transferrin satura... OMIM:604250
Ravine Syndrome
Apnea, Ataxia, Decreased body weight, Failure to thrive, Abnormal brainstem morphology, Atrophy/D... ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Increased serum lactate, Hyperalaninemia, Generalized hypo... OMIM:618329
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Difficulty walking, Dilated cardiomyopathy, D... ORPHA:324588
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... OMIM:613954
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Severe muscular hypoton... ORPHA:367
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Abnormal cerebellum morphology, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Cyanosis, Tetralog... ORPHA:980
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Hyperbilirubinemia, Pulmonic stenosis, Generalize... OMIM:614300
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Metabolic acidosis, Dicarboxylic a... OMIM:615026
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Autosomal Recessive Spastic Paraplegia Type 15
Abnormal cerebellum morphology, Pseudobulbar paralysis, Hand tremor, Impaired vibratory sensation... ORPHA:100996
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Elevated transferrin satur... OMIM:606069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Neonatal hypotonia, Abnormal circulating acetylcarnitine concent... ORPHA:71212
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal enzyme/coenzyme activity, Metabolic ... ORPHA:70472
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Dec... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Lactic acidosis, Hepatic steatosis OMIM:615595
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Increased serum lactate, Increased serum pyruvate, Generalized hypotonia, Fatigue... OMIM:616794
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricula... OMIM:619167
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Muscle fiber necrosis, EMG: myopathic abnormalities, Res... OMIM:614399
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Generalized hypotonia, Hepatic steatosis, Cardiomyopathy, Hypotonia OMIM:615119
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Small for gestational age, Aspiration pn... OMIM:619057
Reynolds Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Spleno... OMIM:613471
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Japanese Encephalitis
Respiratory distress, Status epilepticus, Tremor, Cogwheel rigidity, Abnormal substantia nigra mo... ORPHA:79139
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Myalgia, Ataxia, Lower limb pain, Exercise intolerance, Multiple lipomas, Fatigue, Ragged-red mus... ORPHA:1349
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis, Flexion contracture, Generalized hypotonia, Cardiomyopathy, Hypotoni... OMIM:201470
Hsd10 Disease, Infantile Type
Metabolic acidosis, Abnormality of the lower urinary tract, Optic atrophy, Spastic tetraparesis, ... ORPHA:391428
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... OMIM:300842
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Myalgia, Hyperammonemia, Myoglobinuria, Elevate... OMIM:609015
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar a... OMIM:612438
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproduc... ORPHA:1302
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Arrhythmia, Head tremor, Gait ... OMIM:614860
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Hereditary Spherocytosis
Cholelithiasis, Myalgia, Fever, Hepatomegaly, Hyperbilirubinemia, Abdominal pain, Splenomegaly, R... ORPHA:822
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Increased serum lactate, Elevated circulating creatine k... OMIM:616209
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ba... OMIM:616924
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontal cortical atrophy, Brain atrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Lo... OMIM:167320
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Inability to walk, Aminoaciduria, Cerebral atrophy, EMG: myopathic abnormalities... OMIM:609560
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Generalized hypotonia, Macrocytic anemia, Elevated hepatic t... OMIM:615438
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Exerci... ORPHA:26791
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... OMIM:616291
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Failure to thrive, Decreased circulating cortisol level, Hyperkalemic m... ORPHA:90794
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Laryngeal dystonia, Focal impaired awareness seizure,... ORPHA:845
Adult-Onset Nemaline Myopathy
Myalgia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variabilit... ORPHA:171442
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypothermia, Elevated circulating creatine kinase concentration, Lactic acidosis,... OMIM:618775
Joubert Syndrome 28
Ataxia, Pigmentary retinopathy, Optic disc pallor, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617121
Glutathione Synthetase Deficiency
Intention tremor, Ataxia, Pigmentary retinopathy, Spastic tetraparesis OMIM:266130
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, Myoclonus, Babinski sign, T2 hypointense thalamus, Gait disturbance, S... OMIM:618193
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myalgia, Muscle fiber atrophy, Hepatomegaly, Infantile muscular hypotonia, Muscular dystrophy, Ab... ORPHA:369840
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatic failure, Metabolic acidosis, Elevated circulating aspartate aminotransferas... ORPHA:2088
Childhood-Onset Nemaline Myopathy
Facial diplegia, Reduced vital capacity, Increased variability in muscle fiber diameter, Difficul... ORPHA:171439
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Increased connectiv... OMIM:616827
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Ataxia, Peripheral axonal neuropathy, Spastic paraplegia, Elevated hepatic transaminase, Dilated ... OMIM:619688
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Hepatocellular adenoma, Skeletal muscle atrophy, Renal tubula... ORPHA:79240
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Status epilepticus, Ataxia, Abnormal brainstem MRI signal intensity, Respiratory insufficiency, I... ORPHA:263410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... OMIM:158600
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Hepatic failure, Increased serum... ORPHA:2394
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Short stature, Calf muscle hypertrophy, EMG: my... OMIM:255160
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, ... OMIM:602390
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Pallor, Fatigue, Hemolytic anemia ORPHA:228312
Spastic Paraplegia 2, X-Linked
Abnormal cerebellum morphology, Loss of ambulation, Dysmetria, Babinski sign, Optic atrophy, Dege... OMIM:312920
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Spastic/hyperactive bladder, Babinski sign, Truncal ataxia, Optic ... ORPHA:137898
Peroxisome Biogenesis Disorder 5B
Decreased liver function, Ataxia, Dysmetria, Rod-cone dystrophy, Retinal dystrophy, Tremor, Cereb... OMIM:614867
Homocarnosinosis
Spastic paraplegia, Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... OMIM:607458
Propionic Acidemia
Neutropenia, Hyperglycinuria, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Metabolic acidos... OMIM:606054
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Severe muscular hypotonia, Increa... OMIM:614922
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, 3-Methylglutaconic aciduria, Spasticity, Hypotonia, L... ORPHA:67048
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Tracheomalacia, Axonal degeneration, Respiratory insufficien... OMIM:615490
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Dilat... OMIM:606703
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Gait disturbance, Dilated cardiomyopathy, Intrauterine growth retardation, Retinal... ORPHA:272
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Increased serum lactate, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent... OMIM:500003
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Iron accumulation in substantia nigra, Cerebral atrophy, Spastic paraparesis, Abnor... ORPHA:329284
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent fever, Myalgia, Growth delay, Hepatomegaly, Abdominal pain, Splenomegaly, Metabolic aci... OMIM:615895
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Short stature, Retinal telangiectasia, Neurodegeneration, Gait ataxia... ORPHA:438134
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Cerebral cortical atrophy, Clumsiness, Loss of ambulation, Sensory axonal neuropathy, Atr... OMIM:271245
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Metabolic acidosis, Intermittent lactic a... ORPHA:348
Cholangiocarcinoma
Fever, Abdominal pain, Fatigue, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Acute hepatic failure, Intention tremor... ORPHA:466794
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Decreased mean corpuscular volume, Hypokalemia, Short stature,... OMIM:611590
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Hepatic failure, Splenomegaly, Distal sensory impairment, Frequent falls, T... OMIM:616719
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Babesiosis
Myalgia, Fever, Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Fatigue, Hemolytic anemi... ORPHA:108
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Neonatal hypotonia, Flexion contracture, Micropenis, Hypospadias, Lactic acidosis, Dilated cardio... OMIM:618815
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Metabolic acidos... ORPHA:228308
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Skin ulcer, Jau... ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Cutis laxa, Hypospadias... OMIM:301045
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Action tremor, Optic neuritis, Cerebral atrophy, Parkinsonism with favorable response to ... ORPHA:254886
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Intrahepatic biliary atresia, Metabolic acidosis, Ventricular septal defect... OMIM:208085
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... OMIM:613070
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Step... OMIM:616155
Cofs Syndrome
Hypertonia, Abnormality of retinal pigmentation, Cerebral cortical atrophy, Short stature, Aplasi... ORPHA:1466
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Frontal cortical atrophy, Calf muscle hypertrophy, Scapu... ORPHA:206559
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Hemiparesis, Midline brainstem clef... OMIM:617542
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Sideroblastic anemia, Exercise intolerance, Increas... OMIM:600462
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Cirrhosis, Myocl... ORPHA:363400
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait ataxia, Spastici... OMIM:617810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Tachypnea, Hypoglycemia, ... OMIM:615751
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Hyperinsulinism Due To Hnf4A Deficiency
Metabolic ketoacidosis, Neonatal hypotonia, Hypophosphatemic rickets, Hepatomegaly, Elevated circ... ORPHA:263455
Familial Acute Necrotizing Encephalopathy
Hypertonia, Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Gai... ORPHA:88619
Myopathy, Centronuclear, 4
Myalgia, Centrally nucleated skeletal muscle fibers, Fatigue OMIM:614807
Adult Krabbe Disease
Hemiplegia, Ataxia, Babinski sign, Progressive spastic paraparesis, Spasticity, Peripheral demyel... ORPHA:206448
Nemaline Myopathy 3
Hypertonia, Neonatal hypotonia, Nemaline bodies, EMG: myopathic abnormalities, Rigidity, Type 1 m... OMIM:161800
Mitochondrial Myopathy With Lactic Acidosis
Growth delay, Increased serum lactate, Increased serum pyruvate, Generalized hypotonia, Fatigue, ... OMIM:251950
Muscular Dystrophy, Congenital, Megaconial Type
Neonatal hypotonia, Muscular dystrophy, Elevated circulating creatine kinase concentration, Conge... OMIM:602541
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Increase... OMIM:613027
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased serum lactate,... ORPHA:457050
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait, Mildly elevated creatine kinase OMIM:604454
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Inclusion Body Myositis
Abnormal muscle fiber morphology, Rimmed vacuoles, Elevated circulating creatine kinase concentra... ORPHA:611
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Generalized hypo... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 23
Increased serum lactate, Generalized hypotonia, Arrhythmia, Hypotonia, Lactic acidosis, Intrauter... OMIM:616198
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... OMIM:618387
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... OMIM:617282
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Apnea, Hypertrophic cardiomyopathy OMIM:618235
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated ci... OMIM:300718
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Metabolic acidosis, Increased serum lactate, Cholestasis, Elevated... OMIM:618528
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricular outf... OMIM:619402
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Inability to walk, Tremor, Difficulty walking, Respiratory failure, Bila... ORPHA:2590
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... OMIM:604168
Gómez-López-Hernández Syndrome
Ataxia, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cerebellar ... ORPHA:1532
Tuberculosis
Fatigue ORPHA:3389
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Aminoaciduria, Exercise intolerance, ... OMIM:124000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Elevated ci... OMIM:601954
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Spastic paraparesis, Parkinsonism, Peripheral axonal neuropathy, Abnormal... ORPHA:397725
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Optic nerve hypoplasia, Abnor... ORPHA:300570
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Amyotrophic lateral sclerosis, Elevated circulating alkali... ORPHA:52430
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... OMIM:619566
Mantle Cell Lymphoma
Fever, Fatigue, Splenomegaly ORPHA:52416
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Growth delay, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmet... ORPHA:363429
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Lactic acidosis, Hepatic steatosis OMIM:617872
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber diam... OMIM:607459
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Laurence-Moon Syndrome
Spastic paraplegia, Ataxia, Pigmentary retinopathy, Short stature OMIM:245800
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy, Spasticity OMIM:617613
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Decreased liver function, Hepatomegaly, Aminoaciduria, Exercise intole... OMIM:220110
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Spasticity, Spastic tetrapares... OMIM:619487
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Fatigue OMIM:616323
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function... OMIM:617672
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemi... ORPHA:480
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... ORPHA:48818
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Spasticity, Intraut... OMIM:613861
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Hyp... ORPHA:159
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Acidosis, Focal impaired awareness seizure, Methylmalonic aciduria, Hypoglycem... ORPHA:289504
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Short stature, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasti... OMIM:213200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis, Truncal ataxia,... OMIM:224050
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Hematuria, Respiratory failure... ORPHA:90060
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Pontocerebellar Hypoplasia Type 10
Hypertonia, Abnormal brainstem morphology, Optic atrophy, Spasticity, Growth delay ORPHA:411493
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Myalgia, Tricuspid regurgitation, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Hy... OMIM:619051
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Hepatomegaly, Metabolic acidosis, Generalized hypotonia, Elevated hepatic transa... OMIM:201450
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, E... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Increased serum lactate, Left ventricular noncompaction, Generalized hypotonia, Lacti... OMIM:617228
Barth Syndrome
Granulocytopenia, Tricuspid regurgitation, Exercise intolerance, Intermittent lactic acidemia, Ar... OMIM:302060
Loeffler Endocarditis
Chest pain, Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal m... ORPHA:75566
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Distal sensory impai... OMIM:615048
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Short stature, Pallor, Anisocytosi... ORPHA:98870
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Retinal degeneration, Macular deg... ORPHA:99
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Small for gestational age, Increased serum lactate, Agenesis of corpus callosum... OMIM:312170
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration,... OMIM:611705
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Hepatomegaly, Splenomegaly, Anemia, Intention tremor, Myoclonus, Hypocholesterol... OMIM:610539
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Apla... OMIM:610185
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... OMIM:615924
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Generalized hypotonia, Hepatomegaly, Dystonia OMIM:618224
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Generalized hypotonia, Pancytopenia, Hypotonia, Throm... OMIM:613839
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Ce... ORPHA:314978
Combined Oxidative Phosphorylation Deficiency 17
Generalized hypotonia, Lactic acidosis, Hypotonia, Growth delay, Hypertrophic cardiomyopathy, Con... OMIM:615440
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Inclusion Body Myopathy And Brain White Matter Abnorm