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Gene: Lmod2 MGI:2135672

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

leiomodin 2 (cardiac)

Synonyms:

C-Lmod

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Lmod2 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.

Human diseases associated with Lmod2 (2 diseases)
Human diseases predicted to be associated with Lmod2 (1060 diseases)

The table below shows human diseases associated to Lmod2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiomyopathy, Dilated, 2G		Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Familial Isolated Dilated Cardiomyopathy		Myopathy, Dilated cardiomyopathy	ORPHA:154

The table below shows human diseases predicted to be associated to Lmod2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch...	OMIM:616500
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m...	OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In...	ORPHA:171442
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance, Cardiorespiratory arrest	ORPHA:34587
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hyper...	ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Dilated cardiomyopathy, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, I...	OMIM:612937
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Respiratory insufficiency due to muscle weakness, Flexion contracture, Dilated cardiomyopathy, In...	OMIM:300718
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop...	OMIM:601419
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea...	OMIM:610198
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Respiratory insufficiency due to muscle weakness, Inability to walk, Intrinsic hand muscle atroph...	ORPHA:63273
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insuffic...	OMIM:310200
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex IV,...	OMIM:616198
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyop...	OMIM:161800
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ...	OMIM:612098
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Desminopathy	Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul...	OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-gird...	ORPHA:86812
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ataxia, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers, Hype...	ORPHA:1349
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,...	ORPHA:91130
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, R...	ORPHA:171445
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ...	OMIM:255310
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Decreased activity of mito...	OMIM:252011
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis, Decreased circulating carnitine concentration	ORPHA:79159
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Difficulty walking, Facial myokymia, Limb hyper...	ORPHA:324588
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98855
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Respiratory ins...	ORPHA:157973
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In...	OMIM:602541
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency...	OMIM:300696
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Let...	OMIM:602390
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal...	OMIM:612999
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc...	OMIM:615084
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Ethanolaminosis	Cardiomegaly	OMIM:227150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti...	OMIM:620236
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata...	ORPHA:2041
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric...	OMIM:619048
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ragged-red ...	OMIM:613561
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy...	OMIM:607155
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort...	ORPHA:178464
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca...	OMIM:618234
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy, Cardiomyopathy, Lethargy, Failure to thrive	ORPHA:26792
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Ragged-red mus...	ORPHA:352447
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ...	OMIM:615959
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Decreased activity of mitochondrial complex IV, Cardiomyopa...	OMIM:255100
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of...	ORPHA:860
Distal Myotilinopathy	Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo...	ORPHA:98911
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak...	OMIM:606842
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Cardiomyopa...	OMIM:212140
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly	OMIM:609016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ...	OMIM:615351
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop...	OMIM:618815
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Ventricular tachycardi...	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:615440
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Resp...	OMIM:609015
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Steppage gai...	ORPHA:399086
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy, Difficulty walking, Leg muscle stiffness, Distal low...	ORPHA:320360
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri...	OMIM:608758
Congenital Myopathy 24	Waddling gait, Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricu...	OMIM:617336
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Respiratory arrest, Dilated cardiomyopathy, Ventricular tachycardia, ...	OMIM:600649
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Choreoathetosis, Facial myokymia, Limb hypertonia	OMIM:606703
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally...	OMIM:608358
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito...	ORPHA:263297
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex,...	OMIM:618120
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Failure to thrive	ORPHA:796
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Cough, Abn...	ORPHA:77260
Maternally-Inherited Diabetes And Deafness	Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:225
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive hear...	ORPHA:367
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudde...	OMIM:310300
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy	OMIM:309930
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, ...	OMIM:164310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Myopathy, Myofibrillar, 2	Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric...	OMIM:608810
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Respiratory...	OMIM:607598
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe...	OMIM:614399
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Butyrylcholinesterase Deficiency	Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation...	ORPHA:132
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Gait ataxi...	OMIM:312750
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Inability to walk, Achilles tendon contractur...	ORPHA:2596
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy, Steppage gait	OMIM:610100
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ...	OMIM:617184
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ...	OMIM:615352
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Decr...	OMIM:614299
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Reduced vital capacity, Respiratory insufficiency due to muscle ...	ORPHA:171439
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Dilated ...	OMIM:618805
Refsum Disease, Classic	Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re...	ORPHA:238329
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet...	OMIM:613327
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia	ORPHA:104
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu...	OMIM:613243
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Congestive heart failure, Abnormal heart morphology, Respiratory failu...	ORPHA:70472
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Progressive gait ataxia, Progressive cerebel...	ORPHA:1177
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia	OMIM:310095
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ge...	ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Inspiratory stri...	OMIM:604377
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re...	ORPHA:254864
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Patent for...	OMIM:616866
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ...	ORPHA:50251
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertr...	ORPHA:254913
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Ataxia, Muscular ventricular septal defect, Dilated cardiomyopathy, Genera...	ORPHA:66634
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Hypertension, Left ventricu...	OMIM:616733
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Gait ataxi...	OMIM:616878
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomy...	OMIM:619259
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex	OMIM:614053
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Pleural...	ORPHA:330001
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Gait disturbance, Muscular dystrophy, Generalized a...	OMIM:616516
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal...	ORPHA:324410
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Resp...	ORPHA:171433
Hemochromatosis, Type 2B	Splenomegaly, Cardiomyopathy, Congestive heart failure, Hepatomegaly	OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, My...	ORPHA:99901
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea, Cardiomyopathy, Cough...	ORPHA:3386
Symmetrical Thalamic Calcifications	Arrhythmia, Failure to thrive, Ataxia, Respiratory insufficiency	ORPHA:1314
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Lethargy, Ataxia, Facial palsy...	ORPHA:254892
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Ataxia	OMIM:619099
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochond...	OMIM:618236
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Restrictive cardiomyopathy, Reduced forced vital capacity, Respir...	OMIM:612954
Dystonia 23	Torticollis, Gait disturbance, Arrhythmia	OMIM:614860
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Difficulty wa...	ORPHA:119
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Choreoathetosis, Cardiomyopathy, Lethargy, Fail...	ORPHA:79312
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Facial hypotonia, Congestive heart failure, Atrial septal defect, Failure ...	ORPHA:500533
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron...	ORPHA:980
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoospermia, Ischemic stroke, Decrease...	ORPHA:280679
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy...	OMIM:300842
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro...	ORPHA:254875
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive	OMIM:269920
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Failure to thrive, Pulmonary arterial hypertension	OMIM:616045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Combined Oxidative Phosphorylation Deficiency 20	Small for gestational age, Ataxia, Respiratory insufficiency, Left ventricular noncompaction, Hyp...	OMIM:615917
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dilated cardiomyopathy, Lethargy, Hypertrophic cardiomyopathy, Failure to ...	ORPHA:71212
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy	OMIM:613752
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Broad-based gait, Ataxia, Centrally nucleated skeletal...	OMIM:607459
Duchenne Muscular Dystrophy	Waddling gait, Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf musc...	ORPHA:98896
Cocaine Intoxication	Prolonged QT interval, Respiratory distress, Tachycardia, Prolonged QRS complex, Myocardial infar...	ORPHA:90068
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Camptodactyly	OMIM:618453
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Failure to thrive, Respiratory distress	OMIM:616974
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O...	ORPHA:79102
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Increased muscle lipid content, Abnormality...	ORPHA:565612
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ...	ORPHA:31826
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m...	ORPHA:329336
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Drug-Induced Lupus Erythematosus	Pericardial effusion, Dyspnea, Pericarditis, Prolonged QTc interval	ORPHA:231111
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Decreased activity of mit...	OMIM:620135
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 20	Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa...	OMIM:611126
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Dyspnea, Flexion contracture, Shoulder girdle muscle weakness, Muscu...	OMIM:603511
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Obesity, Myocardial infarction	OMIM:615703
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li...	ORPHA:99013
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to...	ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Ataxia, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, ...	OMIM:618228
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Inability to w...	ORPHA:26791
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Rag...	ORPHA:255210
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Increased muscle lipid content, Myopathy, Cardiomyopathy, Difficulty walking	OMIM:610717
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea...	OMIM:614921
Perching Syndrome	Respiratory distress, Joint contracture, Camptodactyly	OMIM:617055
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Neonatal respiratory distress, Lethargy	ORPHA:254857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Inability to walk, Flexion contracture, Abnormal left ventricular function, Macrogl...	OMIM:613155
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Scimitar Syndrome	Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing...	ORPHA:185
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Obesity,...	OMIM:615418
Dna2-Related Mitochondrial Dna Deletion Syndrome	Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number	ORPHA:352470
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency...	ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Decreased activity of mi...	OMIM:616501
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Dyspnea, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Fatt...	ORPHA:329478
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Respiratory distress, Axial muscle stiffness	ORPHA:240085
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S...	ORPHA:75249
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro...	OMIM:605676
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia, Gait disturbance	ORPHA:99944
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ataxia, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abn...	ORPHA:480864
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Bradykine...	ORPHA:254886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized ...	OMIM:615156
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil...	OMIM:208000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Myopathy, Distal arthrogry...	ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 36	Decreased activity of mitochondrial complex I, Limb hypertonia, Perimembranous ventricular septal...	OMIM:619170
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy,...	ORPHA:70595
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Elbow f...	OMIM:608836
Gitelman Syndrome	Prolonged QT interval, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension...	OMIM:263800
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Ataxia, Ankle flexion contracture, Splenomegaly, Telangiectas...	OMIM:608799
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia	OMIM:618683
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ...	ORPHA:363705
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Joint contracture	OMIM:617977
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Cednik Syndrome	Congestive heart failure, Ataxia	ORPHA:66631
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic c...	ORPHA:156
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Difficulty walking, Increased...	ORPHA:401768
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 29	Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop...	OMIM:618250
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy...	OMIM:615745
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Gait disturbance, Bradycardia, Ar...	OMIM:609286
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea, Atrial septal defect, Pulmonary arterial hypertension, Abnormal posturing, Failure to ...	OMIM:614857
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Inability ...	ORPHA:268
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Congestive heart failure, Nonproductive cough,...	ORPHA:454836
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Arrhythmia, Hyp...	ORPHA:96
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypertension, Az...	OMIM:300845
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Failure to thrive, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Respiratory distress, Hypoventilation, ...	ORPHA:98915
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Res...	OMIM:220110
Friedreich Ataxia	Abnormal EKG, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hypertrophic cardiomyop...	OMIM:229300
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Mitochondrial Complex I Deficiency, Nuclear Type 35	Decreased activity of mitochondrial complex I, Cardiomyopathy, Pulmonary arterial hypertension, N...	OMIM:619003
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Respiratory insuffic...	ORPHA:108
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Ataxia, Crackles, Rhabdomyolysis, Tachypnea, ST segment depression, Hypote...	ORPHA:466650
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval	ORPHA:94090
Infantile Refsum Disease	Hepatomegaly, Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive	ORPHA:772
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,...	OMIM:170390
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Respirat...	ORPHA:90308
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension, Ataxia	ORPHA:3222
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent...	OMIM:617072
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ataxia, Dilated cardiomyopathy, Gait ataxia, Left ventricular hypertrophy, Lethargy	OMIM:618321
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Hepatomegaly...	ORPHA:365
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ...	ORPHA:423
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive heart failure...	ORPHA:231226
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Gitelman Syndrome	Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Rhabdomyol...	ORPHA:358
Melas	Wolff-Parkinson-White syndrome, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, R...	ORPHA:550
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop...	OMIM:615895
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Familial Atrial Fibrillation	Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations	ORPHA:334
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Respiratory ar...	OMIM:201475
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventilation, Hypertroph...	OMIM:620326
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ventricular septal defect,...	OMIM:610978
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ...	ORPHA:555874
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r...	OMIM:258450
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypert...	OMIM:610505
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ...	OMIM:615512
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac...	ORPHA:36238
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Respir...	OMIM:253800
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Ataxia, Congestive heart failure, Splenomegal...	ORPHA:354
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea	ORPHA:90037
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Failure to t...	OMIM:251000
Beta-Thalassemia Major	Hepatomegaly, Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive...	ORPHA:231214
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscl...	OMIM:620278
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:94080
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi...	ORPHA:3342
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla...	ORPHA:3099
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Weight loss, Pleural empyema,...	ORPHA:67
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Broad-based gait, Failure to thrive, Gait disturbance	OMIM:300352
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Broad-based gait, Shuffling gait, Obesity	ORPHA:3077
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper...	OMIM:265400
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,...	ORPHA:2326
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Brady...	OMIM:614702
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Lethargy, Hypertroph...	ORPHA:276556
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,...	ORPHA:70588
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ataxia, Cardiac arrest, Apnea, Dilated cardiomyopathy, Tachypnea, Weight loss, Hypo...	ORPHA:20
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Arrhythmia, Gait disturbance, Camptodactyly of finger	ORPHA:2928
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F...	OMIM:160900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hepatomegaly, Right ventricular dilatation, Myopathy, Restrictive ventilatory defe...	ORPHA:369840
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Achalasia, C...	ORPHA:324
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insuffi...	ORPHA:159
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str...	ORPHA:142
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Ataxia, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, ...	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Decreased activity of mitochondrial complex IV, Decre...	OMIM:617713
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension	OMIM:620029
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Left ventricular hypertrophy, Left atrial enlargement, Ca...	OMIM:300280
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Nonproductive cough, Abnormal cardiac ve...	ORPHA:85443
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Congestive heart failure, Inability to walk, Flexion contract...	OMIM:617303
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Decreased plasma...	ORPHA:228305
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Bradycardia, Pulmonary arterial hypertension, Fail...	OMIM:619272
Atransferrinemia	Congestive heart failure	OMIM:209300
Alstrom Syndrome	Hepatomegaly, Congestive heart failure, Asthma, Dilated cardiomyopathy, Recurrent pneumonia, Hype...	OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonary arterial hypertension, Lethargy	OMIM:619064
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocarditis, Cough	ORPHA:1054
Pseudohypoparathyroidism Type 1B	Calcinosis, Dyspnea, Prolonged QT interval	ORPHA:94089
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt...	ORPHA:3260
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion ...	ORPHA:258
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Inability t...	ORPHA:505248
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Inability to walk, Flexion contracture, Gait ataxia, Atrial s...	OMIM:619383
Kearns-Sayre Syndrome	Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia	OMIM:530000
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Cerebral ischemia, Lethargy, Failure to thrive	ORPHA:927
Asbestos Intoxication	Reduced vital capacity, Right ventricular failure, Reduced forced vital capacity, Nonproductive c...	ORPHA:2302
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature, Failure to...	OMIM:201470
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup...	ORPHA:97214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:228410
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Scorpion Envenomation	Bundle branch block, Tachycardia, Ataxia, Cardiac conduction abnormality, Myocarditis, Congestive...	ORPHA:466677
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Respiratory failure, Loss ...	OMIM:620166
Combined Oxidative Phosphorylation Deficiency 42	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ...	OMIM:618839
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Lethargy, Limb hypertonia	OMIM:620306
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Hec Syndrome	Cardiomyopathy, Arrhythmia, Respiratory insufficiency, Endocardial fibroelastosis	ORPHA:2119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:237310
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Vici Syndrome	Atrial septal defect, Congestive heart failure, Dilated cardiomyopathy, Myopathy, Cardiomyopathy,...	OMIM:242840
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal heart valve morphology, Apnea, Congestive heart failure, Splenomegaly, Abnorm...	ORPHA:579
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Failure to thrive, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left...	ORPHA:99050
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Hepatomegaly	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Stridor, Increased variability in muscle fiber diameter, Fail...	OMIM:615595
Tetrasomy 5P	Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:3309
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Neonatal asphyxia, Hyp...	ORPHA:525731
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow flexion contracture, ...	ORPHA:1900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally...	OMIM:619518
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Right ...	OMIM:619705
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Cardiomyopathy, Lethargy, Failure to...	ORPHA:2394
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Macroglossia, Bradycardia, Large for gestational age	ORPHA:226313
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c...	OMIM:606763
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm...	OMIM:619051
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal h...	ORPHA:2847
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi...	ORPHA:178320
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Hepatomegaly, Abnormal mitochondrial shape, Patent ductus arteriosus, Ra...	ORPHA:17
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right...	ORPHA:97287
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology, Generalized amyotrophy	ORPHA:275872
Pseudohypoparathyroidism Type 1C	Calcinosis, Dyspnea, Prolonged QT interval, Obesity	ORPHA:79444
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos...	ORPHA:99931
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Dilated cardiomyopathy, Dysmetria, Truncal obesity, Dysdiadochokinesis,...	OMIM:616541
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough, Abno...	ORPHA:216866
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Steppage gait, Lower limb muscl...	ORPHA:521411
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Cough...	ORPHA:99745
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea	ORPHA:90033
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Head titubation, Gait ataxia, Truncal ataxia, Arrhythmia	OMIM:620208
Colchicine Poisoning	Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Ataxia, Cardiac conduction abnormality, Apnea, Aspiration...	ORPHA:2131
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary art...	ORPHA:220393
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Dyspnea, Obesity, Choreoathetosis, Hypertension	ORPHA:79443
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Cardiorespiratory arrest, Weight loss, Pleural effusion, Hypotension, ...	ORPHA:188
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Secundum atrial septal defect, Congestive heart failure, S...	OMIM:608779
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Huntington Disease-Like 1	Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing	ORPHA:157941
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper...	OMIM:615382
Hydrops Fetalis	Small for gestational age, Pericardial effusion, Capillary leak, Abnormal heart morphology, Arrhy...	ORPHA:1041
Spontaneous Periodic Hypothermia	Arrhythmia, Ataxia, Abnormal pattern of respiration, Gait disturbance	ORPHA:29822
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss	OMIM:275000
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Nipah Virus Disease	Respiratory distress, Hypotension, Cough	ORPHA:99825
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy	OMIM:304700
Subaortic Stenosis-Short Stature Syndrome	Obesity, Respiratory insufficiency, Membranous subvalvular aortic stenosis, Subvalvular aortic st...	ORPHA:3191
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Decreased activity of mitochondrial complex I, Cardiomyopathy, Decreased activity of mitochondria...	ORPHA:324525
Congenital Diaphragmatic Hernia	Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox...	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 40	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex III, ...	OMIM:618835
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Ataxia, Myopathy, Cardiomyopathy	ORPHA:1215
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Inability to walk, Flexion contracture, In...	ORPHA:86309
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Congesti...	ORPHA:506
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Truncal obesity, Failure to thrive in infancy, Pulmonic stenosis	ORPHA:529962
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Congenital contracture, Neonatal respiratory distress	OMIM:615042
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect...	ORPHA:93672
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Chromosome 18Q Deletion Syndrome	Broad-based gait, Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in...	OMIM:601808
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse	ORPHA:230839
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Small for gestational age, Respiratory insuffi...	OMIM:166210
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Palpitations, Weight loss	OMIM:188580
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-girdle muscular dyst...	ORPHA:369847
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ...	OMIM:232500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Decreased circulating carni...	ORPHA:89842
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Dyspnea, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellu...	OMIM:255125
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Congestive heart failure, Flexion contracture, Recurrent pneumonia,...	OMIM:616271
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy	OMIM:256550
Erdheim-Chester Disease	Ataxia, Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Weight loss, Abnormal...	ORPHA:35687
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Ab...	ORPHA:79282
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Torticollis, Dysdiadochokinesis, Gait disturbance	ORPHA:98805
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Congenital Myasthenic Syndrome	Waddling gait, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency ...	ORPHA:98914
Propionic Acidemia	Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Lethargy, Failure to thriv...	OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Ataxia, Respiratory insufficiency, Choreoathetosis, Cardiomyopathy, Lethargy	ORPHA:27
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Ataxia, Mildly reduced left ventricular ejection fraction, Dysmetria, Arrhythmia	OMIM:618098
Abetalipoproteinemia	Hepatomegaly, Broad-based gait, Failure to thrive, Ataxia, Cardiomegaly, Congestive heart failure...	ORPHA:14
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid...	OMIM:612863
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Supraventricular tachycardia, Foot dorsiflexor we...	ORPHA:273
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Ataxia, Asthma, R...	ORPHA:209905
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Vascul...	ORPHA:727
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Difficulty walking	ORPHA:79097
Tularemia	Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion	ORPHA:3392
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Dilated cardiomyopathy	OMIM:613989
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ...	ORPHA:2556
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi...	OMIM:123700
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Arrhythmia, Cardiomegaly	OMIM:255120
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum...	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Upper airway obstruction	ORPHA:100057
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Joint...	OMIM:617403
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Episodic Ataxia Type 1	Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Respiratory distress	ORPHA:37612
Hypoglossia With Situs Inversus	Situs inversus totalis, Upper airway obstruction, Respiratory distress	OMIM:612776
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Respiratory distress	ORPHA:89844
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100080
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Muscle hypertrophy of the low...	ORPHA:1772
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Q Fever	Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Per...	ORPHA:781
Succinic Acidemia	Respiratory distress	OMIM:600335
Sporadic Infantile Bilateral Striatal Necrosis	Gait ataxia, Titubation, Bradykinesia, Gait disturbance, Abnormal posturing, Hypomimic face	ORPHA:225147
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Hypotension, Pleural eff...	ORPHA:292
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly	OMIM:614741
Sweet Syndrome	Small vessel vasculitis, Myositis, Dilated cardiomyopathy	ORPHA:3243
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Ataxia, Small for gestational age, Type 2 muscle fiber predominance, Cho...	OMIM:615471
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:276621
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ...	ORPHA:210122
Martsolf Syndrome 1	Tracheomalacia, Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitra...	OMIM:620233
Dietary Iron Overload Disease	Hepatomegaly, Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Weight l...	ORPHA:85450
Infantile Krabbe Disease	Respiratory distress, Cachexia, Abnormal heart rate variability, Respiratory failure, Shoulder gi...	ORPHA:206436
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Respiratory distress	ORPHA:240103
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomega...	OMIM:608013
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Arrhyt...	ORPHA:99845
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi...	OMIM:618733
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Lethargy, Respiratory distress, Hepatomegaly	ORPHA:289916
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Leber Optic Atrophy	Myopathy, Arrhythmia, Ataxia	OMIM:535000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff...	ORPHA:363623
Moebius Syndrome	Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Dysdiadochokin...	OMIM:157900
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Pneumonia, Myocarditis, Tachypnea,...	ORPHA:36234
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne...	ORPHA:348
Ogden Syndrome	Torticollis, Ventricular septal defect, Shuffling gait, Cardiogenic shock, Arrhythmia, Lethargy	ORPHA:276432
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Tachypnea, Weight loss, Lethargy	ORPHA:79242
Noonan Syndrome 5	Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:611553
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular...	OMIM:271225
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:100082
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia, Ataxia	OMIM:616949
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Thrombotic Thrombocytopenic Purpura	Dyspnea, Arrhythmia, Myocardial infarction	ORPHA:54057
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang...	ORPHA:2038
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Congestive heart failure, Splenomeg...	ORPHA:33226
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp...	OMIM:217980
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated ...	OMIM:615688
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe...	OMIM:306955
Friedreich Ataxia 2	Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular ...	OMIM:601992
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function, Paroxysmal dyspnea, Exert...	ORPHA:229
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis...	ORPHA:2519
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper...	OMIM:619573
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Supraventricular arrhythmia, Neck muscle hypertrophy, Unsteady gait, Difficulty walk...	ORPHA:420492
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent...	OMIM:610131
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Inability to walk, Abnormal posturing	OMIM:128100
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Abnormal heart morphology, Reflex asystolic sync...	ORPHA:79329
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Failure to thrive, Flexion contracture	ORPHA:544503
Legionnaires Disease	Pericarditis, Ataxia, Myocarditis, Splenomegaly, Endocarditis, Respiratory insufficiency, Restric...	ORPHA:549
Mogs-Cdg	Respiratory distress, Atrial septal defect, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, H...	ORPHA:79330
Aceruloplasminemia	Torticollis, Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gait ataxia	ORPHA:48818
Listeriosis	Respiratory distress, Pericarditis, Ataxia, Pneumonia, Myocarditis, Congestive heart failure, Rha...	ORPHA:533
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Small for gestational age, Congestive heart failure, Hypertension, Isc...	ORPHA:1830
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Small for...	OMIM:260400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art...	OMIM:616482
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat...	ORPHA:79404
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Recurrent pneumonia, Lethargy, Failure to thrive...	OMIM:607143
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Choreoacanthocytosis	Hepatomegaly, Peroneal muscle atrophy, Head titubation, Splenomegaly, Dilated cardiomyopathy, Wei...	ORPHA:2388
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Ventricular septal defect	OMIM:617895
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Abnormal mucociliary clearance, Splenomegal...	ORPHA:90051
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia	ORPHA:2238
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension	OMIM:618886
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Geleophysic Dysplasia 1	Hepatomegaly, Camptodactyly of finger, Tricuspid stenosis, Congestive heart failure, Aortic valve...	OMIM:231050
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest, Abnormal pattern of respiration	ORPHA:168593
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Obesity, Subvalvular aortic stenosis	OMIM:600430
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Weight loss, Restrictive...	ORPHA:537
Sandifer Syndrome	Hematemesis, Torticollis, Abnormal posturing	ORPHA:71272
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:29072
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive	ORPHA:261304
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f...	ORPHA:158687
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis	OMIM:202650
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Failure to thrive, Hepatomegaly	ORPHA:329178
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Ataxia, Dysmetria, Telangiectasia, Abnormal heart morphology, Hepatos...	ORPHA:93400
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai...	ORPHA:542323
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Respiratory insufficiency, Hypertension, Arrhythmia, Hypertrop...	OMIM:614052
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive h...	OMIM:182250
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Ataxia, Obesity, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, Increas...	ORPHA:98907
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm...	ORPHA:576
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder ...	OMIM:620369
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Rhabdomyolysis, Myopathy, Cardiomyopathy, Arrhythmia	ORPHA:157
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Crackles, Myocarditis, Nonproductive cough, Subconjunctival hemorrha...	ORPHA:319213
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss	ORPHA:93958
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,...	ORPHA:2255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Congestive heart failure, Failure to thrive, Lethargy	OMIM:617156
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def...	ORPHA:254346
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction...	ORPHA:881
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Wheezing, Weight loss, Hypovolemic shock, Cough, Arrhythmia	ORPHA:171876
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Rhabdomyol...	ORPHA:509
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Hemorrhagic Fever-Renal Syndrome	Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l...	ORPHA:340
Stt3B-Cdg	Respiratory distress, Failure to thrive	ORPHA:370924
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive	OMIM:615597
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis, Arrhythmia	OMIM:616298
Giant Cell Arteritis	Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia...	ORPHA:397
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Failure to thrive, Camptodactyly of finger, Cardiomegaly, ...	OMIM:256040
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Unilateral Polymicrogyria	Abnormal posturing, Apnea, Epistaxis, Abnormal heart morphology	ORPHA:268943
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Spinocerebellar Ataxia Type 7	Ataxia, Congestive heart failure, Dysmetria, Dysdiadochokinesis, Failure to thrive	ORPHA:94147
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90349
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Abnormal pattern of respiration, Hypotension	ORPHA:428
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion	ORPHA:1666
1P36 Deletion Syndrome	Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopat...	ORPHA:1606
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Asthma, Obesity, Abnormal heart morphology, ...	ORPHA:444077
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Facial hypotonia, Ataxia	ORPHA:438216
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ...	ORPHA:228308
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Lethargy, Limb muscle weakness, Hyperventilation	ORPHA:79241
Agel Amyloidosis	Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun...	ORPHA:85448
Kniest Dysplasia	Respiratory distress, Hip contracture, Gait disturbance, Tracheomalacia	OMIM:156550
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia	OMIM:606164
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Respiratory distress	OMIM:610536
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress	ORPHA:990
Generalized Pustular Psoriasis	Overweight, Congestive heart failure, Obesity	ORPHA:247353
Primary Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hep...	ORPHA:171
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, He...	ORPHA:333
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Akinesia, Myocarditis, Congestive heart failure, Spleno...	ORPHA:3385
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Cachexia, Congesti...	ORPHA:558
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2707
Lymphatic Malformation 7	Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion	OMIM:617300
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3201
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Obesity, Macroglossia, Tracheomalacia,...	ORPHA:261494
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Broad-based gait, Ventricular septal defect, Bicuspid aortic v...	OMIM:619475
Esophageal Atresia	Respiratory distress, Ventricular septal defect, Small for gestational age, Failure to thrive in ...	ORPHA:1199
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal mitochondrial shape	ORPHA:412217
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Palpitations, Hyp...	ORPHA:100078
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Failure to thrive, Hepatomegaly	OMIM:251110
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven...	ORPHA:892
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Decreased plasma total carnitine, Flexion contracture, Foot joint contrac...	ORPHA:79408
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Respira...	ORPHA:221
Fumarase Deficiency	Perimembranous ventricular septal defect, Mitochondrial swelling	OMIM:606812
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Ramos-Arroyo Syndrome	Atrial septal defect, Severe failure to thrive, Respiratory distress, Decreased body weight	ORPHA:1051
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Choreoath...	ORPHA:79139
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Abnormality on pulm...	ORPHA:90289
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Failure to thrive, Cerebral ischemia	ORPHA:60040
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi...	ORPHA:3138
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Dysmetria, Atrial septal defect, Over...	ORPHA:904
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Bronchiectasis, Renovascular hypertension, Hepatosplenomegaly, Pulmonar...	ORPHA:391487
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Hypote...	ORPHA:2135
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Broad-based gait, Hepatomegaly, Ataxia, Loss of am...	OMIM:256810
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Arrhythmia, Tracheobronchomalacia, Patent foramen ovale	OMIM:619184
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy, Failure to thrive, Hepatomegaly	OMIM:251100
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension	ORPHA:100050
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction	OMIM:274150
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dyspnea, Syncope, Orthostatic syncope, Rhinitis	ORPHA:230
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart...	ORPHA:79474
Odontochondrodysplasia 1	Respiratory distress	OMIM:184260
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Respiratory distress	OMIM:612852
Plague	Respiratory distress, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Unsteady gait, Endoca...	ORPHA:707
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure	OMIM:181270
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency, Enlarged kidney	OMIM:608022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Failure to thrive in infancy, Pneumonia, Cachexia, Splenomegaly, ...	ORPHA:37042
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat...	ORPHA:536467
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension	ORPHA:1555
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Foodborne Botulism	Respiratory insufficiency due to muscle weakness, Arrhythmia, Cardiorespiratory arrest	ORPHA:228371
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Failure to thrive	ORPHA:50810
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp...	ORPHA:217085
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Failure to thrive in in...	ORPHA:51608
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s...	OMIM:616268
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp...	ORPHA:217093
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta...	ORPHA:90348
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res...	OMIM:225400
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ...	ORPHA:228123
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Respiratory distress	OMIM:300968
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Patent foramen ovale, Obesity, Abnormal heart morphology	ORPHA:177907
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Facial hypotonia, Intrinsic hand muscle atrophy, Dysmetria, A...	OMIM:615273
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Tendon xanthomatosis, Hear...	ORPHA:391665
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Failur...	ORPHA:444072
Botulism	Arrhythmia, Respiratory insufficiency	ORPHA:1267
Parathyroid Carcinoma	Shortened QT interval, Weight loss	ORPHA:143
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Pleural effusion, Cough, Limb muscle weakness	ORPHA:1546
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Tracheomalacia, Achilles tendon contracture, Pneumot...	OMIM:218040
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Ataxia, Facial palsy, Pneumonia, Lethargy, Arrhythmia	ORPHA:68
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, Upper airw...	ORPHA:141127
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Hallermann-Streiff Syndrome	Tracheomalacia, Congestive heart failure, Respiratory insufficiency	ORPHA:2108
Lymphedema-Distichiasis Syndrome	Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, Chylothorax	OMIM:153400
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Cachexia, Respirat...	ORPHA:800
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Aspirati...	ORPHA:94093
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension, Lethargy	ORPHA:652
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Failure to thrive	OMIM:618426
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia...	OMIM:130650
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia	ORPHA:139411
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan...	OMIM:114290
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Flexion contracture, Camptoda...	OMIM:224690
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Ogden Syndrome	Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr...	OMIM:300855
16P11.2P12.2 Microdeletion Syndrome	Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger	ORPHA:261211
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension	OMIM:123790
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Hypoplastic left h...	ORPHA:991
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Restrictive ventilatory defect, Respiratory distress	OMIM:183900
Rubinstein-Taybi Syndrome 1	Respiratory distress, Ventricular septal defect, Small for gestational age, Flexion contracture, ...	OMIM:180849
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Lower limb muscle ...	ORPHA:90307
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly	OMIM:231680
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger, Ataxia, Gait disturbance, Arrhythmia	ORPHA:2710
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Ataxia, Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia	ORPHA:163746
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal...	OMIM:243800
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma	ORPHA:2874
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3220
Tuberous Sclerosis Complex	Respiratory distress, Cardiac rhabdomyoma, Hypertension, Respiratory failure, Internal hemorrhage	ORPHA:805
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress	OMIM:151210
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Small for gestation...	ORPHA:508488
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2554
Oculodentodigital Dysplasia	Atrial septal defect, Arrhythmia, Ataxia, Joint contracture of the 5th finger	OMIM:164200
Noonan Syndrome	Hepatomegaly, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pulmonar...	ORPHA:648
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Contracture of the distal interphalangeal joint of the finger...	ORPHA:83617
Schinzel-Giedion Syndrome	Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Abnormal heart morpholog...	ORPHA:798
Alström Syndrome	Respiratory distress, Hepatomegaly, Ataxia, Portal hypertension, Congestive heart failure, Spleno...	ORPHA:64
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Achondroplasia	Respiratory distress, Upper airway obstruction	OMIM:100800
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Wiskott-Aldrich Syndrome	Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardiac death, Hematemesis, Dys...	ORPHA:906
Osteoglophonic Dysplasia	Respiratory distress, Failure to thrive, Camptodactyly of finger	OMIM:166250
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ...	ORPHA:3206
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Enlarged kidney	OMIM:618188
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo...	ORPHA:797
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Rodrigues Blindness	Nasal flaring	OMIM:268320
Cockayne Syndrome A	Hip contracture, Hepatomegaly, Ataxia, Splenomegaly, Hypertension, Gait disturbance, Arrhythmia, ...	OMIM:216400
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Atrioventricular canal defect, Respiratory distress	OMIM:617088
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Arrhythmia	ORPHA:342
Adnp Syndrome	Respiratory distress, Aspiration, Truncal obesity	ORPHA:404448
Carney Complex	Cardiac myxoma, Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity	ORPHA:1359
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia	OMIM:171480
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Respiratory distress, Difficulty walking	ORPHA:480880
Cockayne Syndrome B	Hepatomegaly, Ataxia, Small for gestational age, Splenomegaly, Hypertension, Severe failure to th...	OMIM:133540
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait, Multiple joint contractures, Secundum atrial septal defect, ...	ORPHA:99646
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphr...	OMIM:312870
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Mitral valve prolapse, Macroglossia, Arrhythmia, Slender build	ORPHA:828
Ivic Syndrome	Arrhythmia	ORPHA:2307
Pmm2-Cdg	Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Ataxia, Pericar...	ORPHA:79318
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Obesity	ORPHA:466943
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Ulnar-Mammary Syndrome	Ventricular septal defect, Elbow flexion contracture, Obesity, Arrhythmia	OMIM:181450
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Doors Syndrome	Respiratory distress, Double outlet right ventricle, Aspiration pneumonia	ORPHA:79500
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Apnea, Tendon rupture	ORPHA:285
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lmod2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lmod2.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.	Science advances (September 2019)	Lmod2^{tm1(KOMP)Vlcg}	PMC6726455
Increased Cardiac Arrhythmogenesis Associated With Gap Junction Remodeling With Upregulation of RNA-Binding Protein FXR1.	Circulation (November 2017)	Lmod2^{tm1(KOMP)Vlcg}	PMC5809294
HSPB7 is indispensable for heart development by modulating actin filament assembly.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Lmod2^{tm1(KOMP)Vlcg}	PMC5692592
Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality.	Proceedings of the National Academy of Sciences of the United States of America (October 2015)	Lmod2^{tm1(KOMP)Vlcg}	PMC4640780

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MGI Allele	Allele Type	Produced
Lmod2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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