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Gene: Ttn MGI:98864

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

titin

Synonyms:

mdm, D830007G01Rik, 1100001C23Rik, 2310057K23Rik, 2310074I15Rik, L56, connectin, shru, D330041I19Rik, 2310036G12Rik

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 Ttn 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 Ttn (12 diseases)
Human diseases predicted to be associated with Ttn (1338 diseases)

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

Disease	Matching phenotypes	Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Familial Atrial Fibrillation	Exercise intolerance, Fatigue, Chest pain	ORPHA:334

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

Disease	Matching phenotypes	Source
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
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Glycogen Storage Disease 0, Muscle	Exercise intolerance, Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy,...	OMIM:611556
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
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, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Ethanolaminosis	Cardiomegaly	OMIM:227150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Miyoshi Muscular Dystrophy 3	Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph...	OMIM:613319
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A...	ORPHA:171445
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy...	ORPHA:86812
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy	OMIM:310095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness...	OMIM:611307
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Congestive he...	ORPHA:206569
Myositis	Myositis	OMIM:160750
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular...	OMIM:601287
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Muscular dystrophy	OMIM:616094
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca...	ORPHA:59135
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy	OMIM:612998
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f...	OMIM:613818
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy	OMIM:253590
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy	OMIM:254000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia	OMIM:616516
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Muscular dystrophy	OMIM:613152
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, A...	OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m...	OMIM:620265
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargement, Cardiogenic...	OMIM:619424
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left...	OMIM:540000
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia...	OMIM:226670
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ...	ORPHA:399086
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ...	OMIM:619477
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Paget Disease Of Bone 6	Left ventricular hypertrophy, Bone pain	OMIM:616833
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
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
X-Linked Centronuclear Myopathy	Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fib...	ORPHA:596
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture	ORPHA:62
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype...	OMIM:158900
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m...	OMIM:615418
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ...	OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ...	OMIM:615351
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors...	OMIM:617087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,...	OMIM:613156
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Congenital muscular dystrophy, Muscular dystrophy	OMIM:613151
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Abnormal toe morphology, Telangiectasia, Muscular dystrophy,...	ORPHA:459033
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Focal Myositis	Myositis	ORPHA:48918
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral...	OMIM:617258
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy	OMIM:615350
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle fiber atrophy, Viral infection-i...	ORPHA:99845
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy	OMIM:613869
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy, Hammertoe	OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl...	ORPHA:369840
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi...	ORPHA:183
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hypertension, Myopathy, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Talipes equi...	OMIM:617336
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Eosinophilic Fasciitis	Arthritis, Fasciitis, Muscular edema, Myositis	ORPHA:3165
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Conjun...	OMIM:142680
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi...	ORPHA:60041
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Myocarditis, Keratoconjunc...	ORPHA:81
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Graft Versus Host Disease	Skeletal muscle atrophy, Tachycardia, Myositis, Fasciitis, Dupuytren contracture, Maculopapular e...	ORPHA:39812
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrhage, Retinal hem...	OMIM:615368
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Congenital muscular dystrophy	ORPHA:1875
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Fatty replacement of skeletal muscle, Osteoart...	ORPHA:1320
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ...	OMIM:609285
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger	ORPHA:3454
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Skin rash, Raynaud phenomenon, Pustule, Telangiectasia, Pustul...	OMIM:615934
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Hemochromatosis, Type 2A	Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:602390
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture	OMIM:616733
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, F...	ORPHA:75840
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Myocardi...	ORPHA:36234
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol...	ORPHA:3243
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske...	OMIM:300280
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Uveitis,...	ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex...	OMIM:616668
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Cap Myopathy	Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,...	ORPHA:171881
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ankle flexion contracture, Patent ductus arteriosus, Small hand, Upper limb undergrow...	OMIM:608799
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T...	OMIM:619574
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis	OMIM:619183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Cardiomyopathy, Hypertension	OMIM:102200
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Raynaud phenomenon, Discoid lupus rash, Pericardial effusion, Arthritis, Mal...	ORPHA:93552
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten...	OMIM:615290
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr...	OMIM:254090
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers	OMIM:616794
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis	OMIM:617404
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis...	ORPHA:809
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites	ORPHA:2414
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent foramen ...	OMIM:616866
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy	OMIM:613153
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr...	OMIM:205400
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Combined Oxidative Phosphorylation Deficiency 33	Fatigue, Hepatomegaly, Exercise intolerance, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventric...	OMIM:617713
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe...	OMIM:613327
Central Core Disease	Multiple joint contractures, Mitral valve prolapse, Myopathy, Talipes equinovarus, Type 1 muscle ...	ORPHA:597
Myasthenia Gravis	Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis	ORPHA:589
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F...	ORPHA:367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Pericarditis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit...	ORPHA:32960
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block	ORPHA:480
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:615355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Arthrogryposis Multiplex Congenita 6	Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m...	OMIM:619334
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Mcleod Syndrome	Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy	OMIM:300842
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy	ORPHA:324416
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Branchial anomaly, Ventric...	ORPHA:1296
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion	OMIM:613885
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis	ORPHA:2598
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscular ventricula...	OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy	OMIM:615181
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda...	ORPHA:178148
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Finger swelling, Panniculitis, Co...	OMIM:617591
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy	OMIM:610717
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death	ORPHA:764
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema	OMIM:608776
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia	OMIM:609015
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis ...	OMIM:618393
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype...	OMIM:255710
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz...	ORPHA:79083
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy	ORPHA:335
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis...	ORPHA:2552
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Inflammatory abnormality of ...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s...	OMIM:618775
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Split hand, Talipes equinovarus, Kyphoscoliosis	OMIM:607831
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Muscular dystrophy	ORPHA:88618
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr...	OMIM:265400
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype...	OMIM:604377
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Thymoma	Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural...	OMIM:620278
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec...	ORPHA:57
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa...	ORPHA:746
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Arthritis, Myopathy, Increased variability in muscle fiber ...	ORPHA:397744
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Increased intramyocellular lipid droplets, Abnormal muscle fib...	ORPHA:681
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Short neck, Cere...	OMIM:615583
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent...	OMIM:301500
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Eczema, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy,...	OMIM:615895
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Eczema, Facial myokymia	OMIM:620007
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy...	ORPHA:2141
X-Linked Mandibulofacial Dysostosis	Microcephaly, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology...	ORPHA:1131
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f...	ORPHA:2114
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Facial diplegia, Talipes equin...	OMIM:611890
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Dpm1-Cdg	Sandal gap, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Limb undergrowth, Long h...	ORPHA:79322
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Flexion contracture, Muscular dystrophy	OMIM:615249
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased intramyocellular lipid...	OMIM:255125
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:614100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Anisospondyly, Caudal a...	OMIM:156530
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, Raynaud phenomenon, Arthritis, P...	ORPHA:51
Mucopolysaccharidosis, Type X	Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit...	OMIM:619698
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan...	OMIM:618658
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Minimal change glomerulonephritis, Partial duplication...	OMIM:616730
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Talipes equinovarus	ORPHA:85288
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red...	ORPHA:254892
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites	ORPHA:36412
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Hypertension	ORPHA:320
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Ventricular septal defect, Eczema, Minimal change glomerulonephrit...	OMIM:618348
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum, Fibular bowing, Scol...	OMIM:112350
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Tapered finger, Type 1 muscle fiber predominance, Chronic otitis media, Increased variability in ...	OMIM:612949
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear...	ORPHA:398124
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Abnormal left ventricle mo...	OMIM:300845
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I...	OMIM:619487
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Masa Syndrome	Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis	OMIM:303350
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Rayna...	ORPHA:289390
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,...	ORPHA:77259
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ...	ORPHA:2635
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis	OMIM:619433
Fetal Encasement Syndrome	Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth	OMIM:613630
Adrenal Hypoplasia, Congenital	Muscular dystrophy	OMIM:300200
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Angina pectoris, Increased muscle lipid content, Abnormalit...	ORPHA:565612
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Clinodactyly of the 5th toe, Polymorphic...	ORPHA:37553
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Large hands, Scoliosis, Tapered finger	ORPHA:276630
Walker-Warburg Syndrome	Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature...	ORPHA:899
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomyopathy, Increa...	OMIM:608836
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy	OMIM:618237
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis	OMIM:616756
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ...	ORPHA:449285
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Raynaud phe...	ORPHA:206572
Developmental Malformations-Deafness-Dystonia Syndrome	Micromelia, Femoral retroversion, Kyphosis, Macroglossia, Scoliosis, Achalasia	ORPHA:79107
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic...	OMIM:616564
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we...	ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Carnitine Deficiency, Systemic Primary	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopathy, Reduced m...	OMIM:212140
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Tetrasomy 9P	Pericarditis, Myositis, Dextrocardia, Raynaud phenomenon, Small hand, Arthritis, Abnormal cardiac...	ORPHA:3310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Arthrogryposis, Distal, Type 4	Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar ...	OMIM:609128
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Femo...	OMIM:617022
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Overlapping fingers, Femur f...	OMIM:618291
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ...	OMIM:184100
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di...	ORPHA:231226
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction...	ORPHA:255210
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Myopathy, Scoliosis	OMIM:618234
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia	OMIM:614898
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta...	ORPHA:93314
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema	ORPHA:79126
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Skin rash	OMIM:618321
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Arachn...	ORPHA:2461
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Upper limb hypertonia	ORPHA:319199
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 3	Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom...	OMIM:610505
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout	OMIM:232800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w...	OMIM:616479
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val...	OMIM:230500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Recurrent skin infections, Dilated cardiomyopathy, Flexion contracture, ...	ORPHA:89842
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta, Shoulder girdle...	ORPHA:64755
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Ankle flexion contracture, Microcephaly, Pulmonary artery stenosis, Knee flexion ...	ORPHA:435938
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Infla...	OMIM:106300
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia,...	OMIM:618280
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Inflammatory abnormality of the skin, Transient ischemic attack, Cholang...	ORPHA:3260
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyop...	OMIM:266500
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigue, Hepatomegaly, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fi...	ORPHA:365
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s...	ORPHA:48431
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno...	OMIM:601163
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula...	OMIM:212138
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Glycogen accumulation in muscle fiber lys...	ORPHA:368
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Fatigue, Sudden cardiac death, Ebstein anomaly of the tricuspid ...	ORPHA:1880
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve	OMIM:617168
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Foot dorsiflexor weakness, Scoliosis	OMIM:618124
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Increased nuchal translucency, Ab...	ORPHA:453499
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Cdkl5-Deficiency Disorder	Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis	ORPHA:505652
Bruck Syndrome	Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis...	ORPHA:2771
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Tangier Disease	Abdominal pain, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Coronary arter...	ORPHA:31150
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Glycogen Storage Disease Iv	Cardiomyopathy, Arthrogryposis multiplex congenita, Portal hypertension, Skeletal muscle atrophy	OMIM:232500
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Aplasi...	ORPHA:2671
Optic Atrophy 11	Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, F...	OMIM:617302
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Arachnodactyly, Rocker bottom ...	ORPHA:3342
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia of the capital femor...	OMIM:313400
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Clinodactyly of the 5th finger, Subva...	ORPHA:1052
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Arachnodactyly, Scoliosis	ORPHA:1548
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Beta-Thalassemia Major	Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di...	ORPHA:231214
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture	OMIM:620240
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger	ORPHA:1858
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio...	OMIM:212065
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly	OMIM:619148
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema	ORPHA:199241
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Hypertension	ORPHA:3222
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P...	ORPHA:261337
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd...	OMIM:234250
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Chronic pan...	ORPHA:98908
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting	OMIM:606408
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly	OMIM:269920
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Sialidosis Type 2	Kyphosis, Flexion contracture, Skeletal muscle atrophy	ORPHA:87876
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigue, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Exercise-induced myalgia,...	ORPHA:42
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ...	OMIM:166300
Congenital Disorder Of Glycosylation, Type Iig	Left ventricular hypertrophy, Camptodactyly	OMIM:611209
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial necrosis, Tubulointersti...	ORPHA:228302
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Vici Syndrome	Atrial septal defect, Congestive heart failure, Dilated cardiomyopathy, Chronic mucocutaneous can...	OMIM:242840
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Alstrom Syndrome	Chronic active hepatitis, Congestive heart failure, Dilated cardiomyopathy, Recurrent pneumonia, ...	OMIM:203800
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Scoliosis, Shor...	OMIM:180870
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Kyphosis, Absent phalangeal crease, Distal arthrogryposis,...	OMIM:108145
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Tubulointerstitial nephritis, Abnormality of the extraocular muscles, Kera...	ORPHA:79078
Poems Syndrome	Pericardial effusion, Pleural effusion, Ascites, Edema	ORPHA:2905
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Mitral regurgitat...	ORPHA:261250
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart...	OMIM:130060
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vertebral segmentation defect, Congenital diaphragmatic hernia	ORPHA:1166
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Micr...	ORPHA:261330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Muscular dystrophy, Adducted thumb	OMIM:614643
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag...	ORPHA:1520
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d...	ORPHA:2311
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P...	ORPHA:781
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Mucolipidosis Iii Gamma	Hyperlordosis, Flat capital femoral epiphysis, Kyphosis, Short neck, Genu valgum, Scoliosis	OMIM:252605
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Ck Syndrome	Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis	OMIM:300831
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis	OMIM:614409
Mcdonough Syndrome	Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista...	OMIM:615761
Acrocallosal Syndrome	Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb	ORPHA:36
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip...	ORPHA:168572
Sandhoff Disease	Kyphosis	ORPHA:796
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Autism Spectrum Disorder Due To Auts2 Deficiency	Eczema, Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrog...	ORPHA:352490
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Wieacker-Wolff Syndrome	Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Congenital foot c...	OMIM:314580
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Short neck, Small hand, 2-3 toe syndactyly, Scol...	ORPHA:284180
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp...	ORPHA:3068
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid ...	OMIM:607326
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath...	OMIM:235200
Alg9-Cdg	Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, Pericardial ef...	ORPHA:79328
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Patent ductus arteriosus, Ragged-red muscle ...	ORPHA:17
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Pseudoachondroplasia	Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lumbar hyperlordosis...	OMIM:177170
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia	OMIM:615524
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placement of thumb, Kypho...	ORPHA:628
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General...	OMIM:139210
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Flynn-Aird Syndrome	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:2047
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Hemivertebrae, Scoliosis	ORPHA:370079
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Muscular dystrophy	ORPHA:158684
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy, Chronic pancreatitis	OMIM:307030
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand polyda...	ORPHA:3098
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Kyphosis, Postaxial hand polydactyly, Hemivert...	ORPHA:2916
Ohdo Syndrome, Sbbys Variant	Long thumb, Dilated cardiomyopathy, Long hallux	OMIM:603736
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Short lower limbs, Scoliosis	OMIM:259440
Sjögren-Larsson Syndrome	Kyphosis, Inflammatory abnormality of the eye, Scoliosis	ORPHA:816
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Abnormal metatarsal morphology, Flat capital femoral epiphysis, Kyphosis, Slender...	ORPHA:93360
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Oligohydramnios, Intrauterine growth retardation, Hypertrophic cardi...	OMIM:615846
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Arachnodactyly, Scoliosis, Adducted thumb	ORPHA:2181
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hyd...	ORPHA:2136
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Fatigue, Cardiomegaly, Cardiomyopathy, Myalgia, Limb muscle weakness	OMIM:619259
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Dilated cardiomyopathy	OMIM:616541
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis...	ORPHA:94065
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio...	OMIM:615547
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula	OMIM:609166
Crisponi Syndrome	Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis	ORPHA:1545
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnormal diaphysis mor...	ORPHA:3409
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Fatigue, Cardiomegaly	ORPHA:99931
Kaposiform Lymphangiomatosis	Pericardial effusion, Pleural effusion	ORPHA:464329
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,...	ORPHA:958
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Umbilical hernia, Mitral valve prolapse	ORPHA:536532
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Jansen-De Vries Syndrome	Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Brachydactyly	OMIM:617450
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera...	OMIM:618022
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Sandal gap, Kyphosis, Small hand, Short foot, Macroglossia, Brachyd...	OMIM:300354
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra...	OMIM:603387
Alpha-Mannosidosis	Short neck, Kyphosis, Macroglossia, Arthritis, Scoliosis, Chronic otitis media	ORPHA:61
Frank-Ter Haar Syndrome	Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the...	ORPHA:137834
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis, Proximal placement of thumb	ORPHA:1488
Glycogen Storage Disease Xii	Myopathy, Cholecystitis, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Microcephaly, Increased...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Microcephaly, Increased...	ORPHA:352665
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodosum, Vasculitis, Dilated...	OMIM:615688
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
13Q12.3 Microdeletion Syndrome	Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly	ORPHA:412035
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho...	OMIM:223800
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly	ORPHA:2075
Lopes-Maciel-Rodan Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	OMIM:617435
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac...	OMIM:618019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Optic nerve hypoplasia, S...	ORPHA:508488
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Short neck, Kyph...	OMIM:301041
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Bardet-Biedl Syndrome 1	Left ventricular hypertrophy, Hypertension	OMIM:209900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Congenital diaphragmatic hernia	OMIM:300887
Oligomeganephronia	Branchial cyst, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydration, Hype...	ORPHA:2260
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Acute pancreatitis, Abnormal cardiovascular system physiology, Car...	ORPHA:79086
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Abnormality of the musculature of the lower limbs, Scoliosis	ORPHA:464282
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Familial Atrial Fibrillation	Exercise intolerance, Fatigue, Chest pain	ORPHA:334
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Hyperextensibility of the finger joints, Dislocation of the femoral head, Scoliosis	OMIM:619797
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, 2-3 finger syndac...	ORPHA:2437
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ...	OMIM:169400
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Skeletal muscle atrophy	ORPHA:812
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Clark-Baraitser syndrome	Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm	OMIM:300602
Zaki Syndrome	Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Scoli...	OMIM:619648
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Brachydactyly, Hyperlordosis	ORPHA:3085
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re...	OMIM:619127
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Metaphyseal widening, F...	OMIM:263210
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Short neck, Spinal r...	ORPHA:94068
Schisis Association	Congenital diaphragmatic hernia, Micromelia	ORPHA:63862
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm...	ORPHA:466791
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Abnormal cerebral morphology, Facial palsy	OMIM:113650
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Short proximal phalanx of fi...	ORPHA:15
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Acne, Scoliosis, Short neck	ORPHA:3191
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I...	ORPHA:79102
Chédiak-Higashi Syndrome	Pericardial effusion, Pleural effusion, Edema	ORPHA:167
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus arteriosus, Dilated cardi...	ORPHA:1606
Rett Syndrome	Short foot, Kyphosis, Scoliosis, Skeletal muscle atrophy	OMIM:312750
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, S...	ORPHA:3121
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Arthritis, Distal amyotrophy, Myopathy, Muscle f...	ORPHA:2388
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ...	ORPHA:465508
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol...	ORPHA:3082
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula	ORPHA:50815
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Basilar Impression, Primary	Limb muscle weakness, Kyphoscoliosis, Short neck	OMIM:109500
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Hypertension, Atrial septal defect, Left ventricular hypertrophy, Pat...	OMIM:613610
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly...	ORPHA:158687
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Holt-Oram Syndrome	Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl...	ORPHA:392
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosi...	ORPHA:1798
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Rocker bottom foot, Micromelia, Hyperlordosis, Short ne...	ORPHA:2616
Sandhoff Disease	Skeletal muscle atrophy, Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ep...	OMIM:268800
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Abnormal metaphysis morp...	ORPHA:583
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy	ORPHA:88644
Tonne-Kalscheuer Syndrome	Broad thumb, Congenital diaphragmatic hernia, Brachydactyly	OMIM:300978
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Vertebral seg...	ORPHA:1834
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Dilated cardiomyopathy, Rena...	ORPHA:79404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Congenital contracture, Congenital muscular dystrophy	OMIM:236670
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Abnormal metaphysis mo...	ORPHA:2655
Lymphangioleiomyomatosis	Ascites, Chylothorax, Chylopericardium, Lymphedema	ORPHA:538
Marden-Walker Syndrome	Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Congenital contracture, Radioulnar s...	OMIM:248700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM...	OMIM:618733
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis	OMIM:211530
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Metatarsus adductus, H...	OMIM:253220
Stickler Syndrome, Type I	Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Scoliosis, Morbus Scheuermann, Beaking of ver...	OMIM:108300
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange...	OMIM:607015
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Kyphosis, Abnormal fo...	ORPHA:3219
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Skeletal muscle atrophy, Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
Mucopolysaccharidosis Type 4	Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,...	ORPHA:582
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Glomerulonephritis, Recurrent skin infections, Dilated cardiomyopathy, Fl...	ORPHA:79408
Aneurysm-Osteoarthritis Syndrome	Chronic fatigue, Camptodactyly of finger, Abnormal heart morphology, Pulmonic stenosis, Left vent...	ORPHA:284984
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Dilated cardiomyopathy, Biventricular hypertrophy,...	OMIM:619573
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Skeletal muscle atrophy	OMIM:219080
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Finger syndactyly, Arachnodactyly, Camp...	ORPHA:2215
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Talipes equinova...	OMIM:617821
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy	OMIM:615287
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia	ORPHA:2143
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ...	OMIM:220111
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contracture	OMIM:609029
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Bor Syndrome	Branchial cyst, Facial palsy	ORPHA:107
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Atypical Rett Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	ORPHA:3095
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal...	OMIM:612289
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly, Vertebral segmentat...	OMIM:612530
Mosaic Trisomy 1	Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Camptodactyly of finger,...	ORPHA:1692
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Edema, Cardiomegaly, Pericardial effusion, Polyhydramnios, Hydrops fetal...	ORPHA:51608
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, ...	OMIM:617602
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos...	ORPHA:2062
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Branchiootic Syndrome	Branchial fistula, Facial palsy	ORPHA:52429
Distal Deletion 12Q	Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale	ORPHA:96149
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,...	ORPHA:1001
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty	ORPHA:91347
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Scoliosis	OMIM:615381
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Genu valgum, Short neck	ORPHA:2983
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies, Skeletal muscle atrophy	OMIM:219090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy	OMIM:253280
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis, Delayed puberty	ORPHA:358
Marfanoid Habitus With Situs Inversus	Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Fetal Alcohol Syndrome	Vertebral segmentation defect, Congenital diaphragmatic hernia	ORPHA:1915
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Patent ductus arteriosus	ORPHA:861
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Cono-Spondylar Dysplasia	Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t...	ORPHA:508533
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Kyphoscoliosis, Congenital diaphragmatic hernia, Split ha...	OMIM:200980
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis...	ORPHA:1860
15Q14 Microdeletion Syndrome	Kyphosis, Acne, Scoliosis	ORPHA:261190
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Short neck, Kyphosis, Scoliosis, Short palm, Cli...	ORPHA:254346
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Abnormality of muscle size, Facial hypotonia, Scoliosis	ORPHA:364028
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Abdominal pain, Cardiomegaly	OMIM:603903
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Facial palsy, Polyhydramnios, Atrial septal defect, Pulmonary arteri...	OMIM:620186
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis, Limb hypertonia	ORPHA:90322
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Arthritis, Thickened Achilles tendon, Intervertebral d...	OMIM:203500
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscul...	ORPHA:354
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Bicuspid aortic valve, Chronic fatigue, Sudden death, Mitral valve prola...	OMIM:613795
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodacty...	OMIM:617061
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia	ORPHA:2063
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap...	ORPHA:192
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ...	OMIM:618443
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis	ORPHA:261197
Weaver Syndrome	Short fourth metatarsal, Toe clinodactyly, Overlapping toe, Diastasis recti, Coxa valga, Wide dis...	OMIM:277590
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Short neck, Achilles tendon contracture, Tal...	ORPHA:363528
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea...	ORPHA:887
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Kyphosis, Vertebral segmentation defect, Short middle phalanx o...	ORPHA:1005
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph...	ORPHA:2911
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion	OMIM:181000
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1335
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Camptodactyly of finger, Abn...	ORPHA:251014
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Congenital diaphragmatic hernia	ORPHA:250999
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Kyphosis, 3-4 finger cuta...	OMIM:619951
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Scol...	ORPHA:96170
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck	ORPHA:1780
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis, Tibial bowing	OMIM:259420
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Kyphosis, Small hand, Short foot...	ORPHA:85293
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia	OMIM:617190
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial nephritis, Neonatal dea...	OMIM:124000
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Limb hypertonia	OMIM:619909
Crimean-Congo Hemorrhagic Fever	Pericardial effusion, Myocarditis, Ascites	ORPHA:99827
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ...	ORPHA:1328
Pericardial And Diaphragmatic Defect	Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	ORPHA:2847
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of...	ORPHA:1647
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Cole-Carpenter Syndrome	Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me...	ORPHA:2050
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally...	ORPHA:800
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Singleton-Merten Syndrome 1	Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Conges...	OMIM:182250
Hurler Syndrome	Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ...	OMIM:607014
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad...	ORPHA:404440
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia	ORPHA:63260
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia...	ORPHA:261344
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni...	ORPHA:251071
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Osteogenesis Imperfecta, Type Iv	Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae...	OMIM:166220
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly	ORPHA:261222
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Short phalanx of f...	OMIM:143095
Pycnodysostosis	Brachydactyly, Rhizomelia, Hyperlordosis, Kyphosis, Small hand, Short foot, Spondylolysis, Scolio...	ORPHA:763
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno...	ORPHA:261318
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc...	OMIM:618493
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Macroglossia, Talipes equino...	OMIM:301040
Trisomy 13	Kyphosis, Postaxial hand polydactyly, Ectrodactyly, Scoliosis	ORPHA:3378
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies	OMIM:130720
3C Syndrome	Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Brachydactyly	ORPHA:7
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Clinodactyly of t...	ORPHA:568
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Short neck, Scoliosis, Clinodactyl...	OMIM:304110
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, P...	OMIM:610915
Harrod Syndrome	Kyphosis, Arachnodactyly, Scoliosis	ORPHA:2115
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co...	OMIM:154400
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Hypoplastic cervical vertebrae, Br...	OMIM:616364
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Fibular hypop...	ORPHA:140
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Jaberi-Elahi Syndrome	Hand clenching, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:617988
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Er...	OMIM:618476
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Myopathy, Scoliosis, Proximal femoral epiphysiolysis	OMIM:162300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Tibial bowing, Femoral bowing, Platyspondyly, Mesomelia	OMIM:616482
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Witteveen-Kolk Syndrome	Branchial fistula, Congenital diaphragmatic hernia, Microcephaly, Polyhydramnios, Dysplastic corp...	OMIM:613406
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly	OMIM:258850
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Distal Triplication 15Q	Arachnodactyly, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly	ORPHA:314588
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Split hand, Flexion contracture, Macroglossia	OMIM:309900
Congenital Total Pulmonary Venous Return Anomaly	Fatigue, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral at...	ORPHA:99125
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Megalocornea-Intellectual Disability Syndrome	Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum	ORPHA:2479
Triosephosphate Isomerase Deficiency	Kyphosis, Myopathy, Skeletal muscle atrophy	OMIM:615512
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:219100
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Foot polydactyly, Congenital diaphragmatic hernia, Short palm	ORPHA:268249
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Pancreatitis	OMIM:610475
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st...	ORPHA:476126
Iniencephaly	Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, ...	ORPHA:63259
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart...	OMIM:252500
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Dias...	ORPHA:2092
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Promi...	OMIM:610443
2P15P16.1 Microdeletion Syndrome	Sandal gap, Camptodactyly of finger, Facial palsy, Tapered finger, Metatarsus adductus, Kyphosis,...	ORPHA:261349
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia	ORPHA:2409
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
Donnai-Barrow Syndrome	Diaphragmatic eventration, Congenital diaphragmatic hernia	OMIM:222448
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly	OMIM:619123
Seckel Syndrome 9	Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:616777
Arterial Tortuosity Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Scoliosis	OMIM:208050
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Small hand, Short foot, Scoliosis	ORPHA:500055
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Kyphosis, Mesomelia, Scoliosis, Camptodactyly, Clinodactyl...	OMIM:616894
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Kyphosis, Hepatitis, Arthritis, Platyspondyly, Juvenile rheumatoid arthritis	ORPHA:1855
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly...	ORPHA:521426
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ...	ORPHA:3042
Wolf-Hirschhorn Syndrome	Sacral dimple, Arachnodactyly, Congenital diaphragmatic hernia, Short hallux, Kyphosis, Short thu...	ORPHA:280
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc...	ORPHA:464738
Cowden Syndrome 5	Kyphosis, Thyroiditis, Scoliosis	OMIM:615108
Noonan Syndrome 14	Clinodactyly, Kyphosis, Scapular winging, Short neck	OMIM:619745
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy...	OMIM:130650
Prader-Willi Syndrome	Syndactyly, Decreased muscle mass, Kyphosis, Acromicria, Small hand, Genu valgum, Short foot, Sco...	OMIM:176270
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Micromelia, Congenital diaphragmatic hernia, Short neck, Preaxial polydactyly	OMIM:616546
Kabuki Syndrome	Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of ...	ORPHA:2322
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur...	OMIM:619194
Halperin-Birk Syndrome	Flexion contracture, Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:618651
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Recurrent pneumonia, Scoliosis	OMIM:616449
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav...	OMIM:259770
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C...	ORPHA:373
Chromosome 15Q25 Deletion Syndrome	Long fingers, Congenital diaphragmatic hernia, Short neck	OMIM:614294
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large join...	OMIM:617527
Cowden Syndrome 6	Kyphosis, Thyroiditis, Scoliosis	OMIM:615109
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Facial palsy, Short neck, Microcephaly, Elbow flexion contracture,...	OMIM:113620
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Eczema, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoli...	OMIM:300966
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi...	ORPHA:2369
Frank-Ter Haar Syndrome	Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M...	OMIM:249420
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Kyphosis	OMIM:616914
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Slender toe, Genu valgum...	ORPHA:193
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Fryns Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of finger, Congenital diaphragmatic hernia, ...	ORPHA:2059
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Camptodactyly of finger, ...	ORPHA:1507
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Triphalangeal t...	ORPHA:2232
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Short neck	ORPHA:468678
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Proximal placement of...	ORPHA:818
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia	OMIM:611812
Alexander Disease	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Infectious encephalitis	ORPHA:58
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Short foot, Scoliosis, Clinodactyl...	OMIM:618454
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Monosomy 9P	Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Abnormality of the tars...	ORPHA:261112
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Cornelia De Lange Syndrome 1	Micromelia, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Hypoplasia ...	OMIM:122470
Marshall-Smith Syndrome	Hallux valgus, Thoracic scoliosis, Kyphoscoliosis, Bullet-shaped middle phalanges of the hand, Hy...	OMIM:602535
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Absent ...	OMIM:618050
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplasia of the femur, Sc...	ORPHA:2769
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Cowden Syndrome 1	Kyphosis, Thyroiditis, Scoliosis	OMIM:158350
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Inflammation of the large intestine, Bronchiectasis, Knee flexion contracture	OMIM:619708
Micro Syndrome	Kyphosis, Scoliosis	ORPHA:2510
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia	OMIM:313850
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Bowing of the long bones, Short humerus, Lateral femoral bowing	OMIM:239000
Ogden Syndrome	Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr...	OMIM:300855
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia	OMIM:194080
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Kyphosis, Polydactyly...	ORPHA:464306
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Flexion contracture, Small hand, Short foot, Scoliosis	ORPHA:398069
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Kyphosis, Abnormality of the vertebral column, Polydactyly	ORPHA:77301
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, C...	OMIM:243800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Hand po...	ORPHA:401973
7Q11.23 Microduplication Syndrome	Sacral dimple, Congenital diaphragmatic hernia, Short neck, Long fingers, Hemivertebrae	ORPHA:96121
Rett Syndrome, Congenital Variant	Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Achalasia, Ineffective esophageal peristalsis, Scoliosis	OMIM:619482
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Clinodactyly, Radial deviation of finger	OMIM:609944
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Polydactyly, Scoliosis, Clinodactyly of the 5th fi...	OMIM:301022
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Kyphosis, Slender toe, Camptodac...	ORPHA:3063
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co...	ORPHA:464311
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh...	OMIM:301044
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Short distal phalanx of finger	OMIM:614080
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Anasarca, Hypertroph...	ORPHA:79318
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge...	OMIM:256040
Microphthalmia, Syndromic 9	Diaphragmatic eventration, Congenital diaphragmatic hernia	OMIM:601186
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	ORPHA:171629
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Facial palsy, Kyphosis, Abnormal metacarpal morphology, Abnormal finger morpho...	ORPHA:2658
Trisomy 18	Deviation of finger, Postaxial hand polydactyly, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Cleidocranial Dysplasia 1	Brachydactyly, Short middle phalanx of the 2nd finger, Kyphosis, Coxa vara, Cone-shaped epiphyses...	OMIM:119600
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Kyphosis, Spinal canal stenosis, Abnormal form of the ve...	ORPHA:828
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis	OMIM:617011
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	OMIM:267000
C Syndrome	Sacral dimple, Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Short neck, Aplasia/H...	ORPHA:1308
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Hyperlordosi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Hyperlordosi...	ORPHA:363958
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl...	ORPHA:955
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Cervical kyphosis, Micromelia, Diaphyseal thickening, Kypho...	ORPHA:666
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Fused cervical vertebrae, Herniat...	OMIM:157800
Mgat2-Cdg	Kyphosis, Scoliosis, Brachydactyly	ORPHA:79329
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Aspartylglucosaminuria	Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spo...	OMIM:208400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Kyphosis	ORPHA:457359
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han...	OMIM:305600
Opitz Gbbb Syndrome	Vertebral segmentation defect, Congenital diaphragmatic hernia	ORPHA:2745
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S...	ORPHA:116
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac...	OMIM:300960
Occipital Horn Syndrome	Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the capital femora...	ORPHA:198
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Increased femoral anteversion, Scoliosis	OMIM:619005
Atelis Syndrome 2	Clinodactyly, Kyphosis, Sacral dimple	OMIM:620185
Coffin-Siris Syndrome 1	Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ap...	OMIM:135900
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Scoliosis, Skeletal muscle atrophy	ORPHA:90324
Alström Syndrome	Glomerulonephritis, Portal hypertension, Congestive heart failure, Short toe, Dilated cardiomyopa...	ORPHA:64
Distal Deletion 15Q	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Small hand, Genu valgum, Finger cl...	ORPHA:1596
Classic Homocystinuria	Kyphosis, Arachnodactyly, Scoliosis, Genu valgum	ORPHA:394
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Decreased muscle mass, Pseudoepiphyses of the metacarpals, Short...	OMIM:194190
Marfan Syndrome	Skeletal muscle atrophy, Arachnodactyly, Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Lymphedema-Distichiasis Syndrome	Kyphosis, Conjunctivitis	OMIM:153400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Eczema, Camptodactyly of finger, Keratitis, Kyphosis, Cheilitis, Uveitis, Scleritis...	ORPHA:2273
Cdags Syndrome	Kyphosis	OMIM:603116
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li...	OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Postax...	OMIM:312870
Meacham Syndrome	Congenital diaphragmatic hernia	ORPHA:3097
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Eczema	ORPHA:85199
Zttk Syndrome	Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis	OMIM:617140
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,...	ORPHA:3472
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia	OMIM:309801
Cowden Syndrome	Macroglossia, Kyphosis, Scoliosis, Brachydactyly	ORPHA:201
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Large hands, Cortica...	ORPHA:963
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Macroglossia, Large hands, Cortica...	ORPHA:314769
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Cockayne Syndrome	Skeletal muscle atrophy, Kyphosis, Contractures of the large joints, Congenital contracture, Scol...	ORPHA:191
Occipital Horn Syndrome	Short humerus, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum, Platyspondyly	OMIM:304150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4...	ORPHA:268261
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Torticollis, Osteomyelitis, Kyphosis, Abnormal curvature of the vertebral column, Scol...	OMIM:619475
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia	OMIM:618846
Oculocerebrorenal Syndrome Of Lowe	Kyphosis, Cheilitis, Arthritis, Platyspondyly, Periodontitis, Scoliosis, Chronic otitis media	ORPHA:534
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Congenital diaphragmatic hernia, Short n...	ORPHA:199
Pagod Syndrome	Congenital diaphragmatic hernia	ORPHA:991
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Kyphosis, Genu valgum, Platyspondyly, Finger swelling, Scoliosis, Joint ...	OMIM:309000
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Metatarsus valgus, Kyphosi...	ORPHA:744
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia	OMIM:617641
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:614437
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Kyphosis, Coxa vara, Talipes equinovarus, Scoliosis	OMIM:278250
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Kyphosis	ORPHA:1393
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Coxa valga, Kyphosis, ...	OMIM:303600
Cockayne Syndrome A	Hip contracture, Kyphosis, Ivory epiphyses of the phalanges of the hand	OMIM:216400
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia	OMIM:273395
Heart Defects, Congenital, And Other Congenital Anomalies	Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	OMIM:600001
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Metatarsus adductus, Kyphosis, Flexion contracture, Kne...	OMIM:259050
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99413
Mosaic Monosomy X	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99226
Turner Syndrome	Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:881
Cockayne Syndrome B	Kyphosis, Ivory epiphyses of the phalanges of the hand	OMIM:133540
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Large hands, Abnormality of...	ORPHA:97685
Neurofibromatosis Type 1	Kyphosis, Genu valgum, Scoliosis, Genu varum	ORPHA:636
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia	ORPHA:2255
Viss Syndrome	Long toe, Arachnodactyly, Rocker bottom foot, Kyphosis, Genu valgum, Macroglossia, Talipes equino...	OMIM:619472
Pallister-Killian Syndrome	Sacral dimple, Rhizomelia, Kyphoscoliosis, Short neck, Congenital diaphragmatic hernia, Mesomelic...	OMIM:601803
Sotos Syndrome	Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Kyphosis, Bilateral camptoda...	ORPHA:821
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the 2nd finger, Toe syndactyly, Tapered toe, Anterior concavity ...	OMIM:216340

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 Ttn

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 Ttn.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Maintenance of sarcomeric integrity in adult muscle cells crucially depends on Z-disc anchored titin.	Nature communications (September 2020)	Ttn^{tm1a(EUCOMM)Wtsi}	PMC7478974

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ttn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ttn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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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