Gene: Ngf MGI:97321

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nerve growth factor

Synonyms:

Ngfb

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 Ngf 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 Ngf (2 diseases)
Human diseases predicted to be associated with Ngf (1332 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neuropathy, Hereditary Sensory And Autonomic, Type V		Hand tremor	OMIM:608654
Hereditary Sensory And Autonomic Neuropathy Type 5			ORPHA:64752

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right...	OMIM:253700
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Optic Atrophy 2	Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign	OMIM:311050
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type...	OMIM:619903
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Polyhydram...	OMIM:300580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dehydration, Pulmonic stenosis	ORPHA:79159
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc...	OMIM:616827
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird...	ORPHA:263494
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Right Ventricular Hypoplasia, Isolated	Hypoplasia of right ventricle	OMIM:277200
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe...	OMIM:618815
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Dilated cardiomyopathy, Type 1 muscle fiber predominance, Limb muscle weakness, ...	OMIM:161800
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Myasthenic Syndrome, Congenital, 18	Difficulty walking, Ptosis, Ataxia	OMIM:616330
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Gait disturbance, Progressive ptosis, Facial palsy	OMIM:164300
Myasthenic Syndrome, Congenital, 15	Difficulty walking, Ptosis, Frequent falls	OMIM:616227
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m...	OMIM:252011
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Limb dyst...	OMIM:605407
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Epicanthus, Ptosis, Optic atrophy, Upslanted palpebral fissure	OMIM:620086
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ptosis, Abnormal autonom...	OMIM:618049
Hemochromatosis, Type 2A	Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:602390
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Oculomotor-Levator Synkinesis	Eyelid retraction, Ptosis, Abnormal eyelid morphology	OMIM:151610
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Spastic ataxia, Ptosis, Gait disturbance, Dystonia	OMIM:108600
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Ptosi...	ORPHA:251282
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Myasthenic Syndrome, Congenital, 17	Difficulty walking, Ptosis	OMIM:616304
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	OMIM:606703
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal...	OMIM:255310
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Yoon-Bellen Neurodevelopmental Syndrome	Optic atrophy, Spasticity, Failure to thrive, Bilateral ptosis, Downslanted palpebral fissures, I...	OMIM:619701
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Pierre Robin Syndrome	Cor pulmonale	OMIM:261800
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Broad-based gait, Progressive truncal ataxia, Difficulty walking, Dysmetria, Babinski sign, Progr...	ORPHA:363429
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ...	OMIM:615084
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac...	OMIM:602541
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ...	ORPHA:272
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur...	OMIM:310200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c...	OMIM:158580
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Spinocerebellar Ataxia 50	Froment sign, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ptosis, At...	OMIM:620158
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98855
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Bilateral ptosis, Difficulty walking, Delayed menarche, Inabili...	ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal mot...	OMIM:610743
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98853
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites	ORPHA:295
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Spasticity, Failure to thrive, Intrauterine growth retardation, Ptosis, Dystonia, ...	OMIM:618238
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Pt...	OMIM:619862
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Ptosis-Vocal Cord Paralysis Syndrome	Severe short stature, Hemiplegia, Ptosis	ORPHA:2997
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit...	ORPHA:216873
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy...	ORPHA:352447
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Involuntary movements, Progressive extrapyramidal movement disorder, Resting tremo...	ORPHA:401768
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Kondoh Syndrome	Intrauterine growth retardation, Thick eyebrow, Ptosis, Short stature, Sparse hair, Widow's peak	OMIM:606242
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card...	ORPHA:367
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Epilepsy, Familial Adult Myoclonic, 3	Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ...	OMIM:613608
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ...	OMIM:616053
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr...	OMIM:609308
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ptosi...	OMIM:607684
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Cerebral edema, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis, Ptosis, Decreased motor nerve conduction velocity	OMIM:605285
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass...	ORPHA:263297
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Microcephaly 16, Primary, Autosomal Recessive	Spasticity, Telecanthus, Decreased body weight, Ptosis, Short stature, Spastic tetraplegia	OMIM:616681
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Caribbean Parkinsonism	Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata...	ORPHA:97355
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Downslanted palpebral fissur...	ORPHA:442835
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Myoclonus, Tremor, Cachexia, Ptosis, Abnormal autonomic nervou...	ORPHA:97229
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc...	ORPHA:276435
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe...	OMIM:619433
Combined Oxidative Phosphorylation Deficiency 45	Epicanthus, Failure to thrive, Tremor, Ataxia	OMIM:618951
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Waardenburg Syndrome Type 2	Premature graying of hair, Telecanthus, White forelock, Aganglionic megacolon, Ptosis, Hypopigmen...	ORPHA:895
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Ptosis, Facial palsy	OMIM:617732
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis, Bilateral ptosis	OMIM:193240
Epilepsy, Familial Adult Myoclonic, 1	Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials	OMIM:601068
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis, Abnormal cranial nerve morphology	OMIM:258470
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ...	OMIM:617336
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Ptosis, Dystonia, Dysdiadochokinesis, P...	ORPHA:254881
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Downslanted palpebral fissures, Difficulty walking, Inabi...	OMIM:611890
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Thick eyebrow, Abnormal cranial nerve morphology, Ptosis, Blepharophimosis...	ORPHA:2057
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Inability to walk, Ptosis, Short stature, Spastic tetraparesis, Growth delay	ORPHA:438178
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycar...	OMIM:605676
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Premature graying of hair, Tremor, Rigidity, Hypertonia, Ataxia, Hypop...	ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell...	ORPHA:99901
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Ptosis, Abnormal pyramidal sign, Ataxia, Short...	OMIM:614831
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Tremor, Hypertonia, Ataxia, Short stature	ORPHA:1368
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Epilepsy, Familial Adult Myoclonic, 4	Enhancement of the C-reflex, Myoclonus, Tremor	OMIM:615127
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Tremor, Babinski sign, Step...	OMIM:609260
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ...	ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Frontal upsweep of hair, Tremor, Ataxia	OMIM:300983
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait ataxia, ...	ORPHA:101150
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Myopathy, Rhabdomyolysis, Arrhythmia, Hydrops f...	OMIM:609015
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy	ORPHA:401923
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Ga...	ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Gait disturbance, Tremor, Ataxia	ORPHA:101075
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Peripheral edema, Mitral regurgitation, Pul...	ORPHA:75249
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Broad-based gait, Small nail, Tremor, Spastic tetraparesis	OMIM:619470
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ptosis, Facial palsy	OMIM:610542
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Obesity, Ptosis, Growth delay	ORPHA:171706
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Optic atrophy, Difficulty walking, Tremor, Loss of ambulation, Bab...	ORPHA:137898
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolac...	ORPHA:2220
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Left ventricular non...	OMIM:617228
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Narrow palpebral fissure, Waddling gait	OMIM:616269
Coffin-Siris Syndrome 8	Failure to thrive, Hypertrichosis, Long eyelashes, Thick eyebrow, Ptosis, Sparse scalp hair	OMIM:618362
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis, Falls, Failure to thrive	OMIM:616326
Multiple System Atrophy	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:102
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Ptosis, Limb hypertonia, Bradykine...	ORPHA:70594
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Monomelic Amyotrophy	Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul...	ORPHA:65684
Spinocerebellar Ataxia Type 37	Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:618348
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Gait disturbance, Tremor, Ataxia	ORPHA:101078
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Generalized hirsutism, Cachexia, Ptosis, Ataxia, Short stature	ORPHA:1933
Spinocerebellar Ataxia 7	Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio...	OMIM:164500
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t...	ORPHA:3095
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Ptosis, Facial palsy	OMIM:609283
2p15-16.1 microdeletion syndrome	Telecanthus, Ptosis, Downslanted palpebral fissures	DECIPHER:70
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy	ORPHA:254913
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ...	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Tremor, Ptosis, Ataxia, Dystonia, Growth delay, Choreoathetosis	OMIM:619422
Intellectual Developmental Disorder, Autosomal Dominant 26	Highly arched eyebrow, Short palpebral fissure, Cerebral palsy, Downslanted palpebral fissures, I...	OMIM:615834
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Atrial fibrillation	OMIM:300842
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Myoclonus, Intractable, Neonatal	Chorea, Myoclonus, Ptosis, Optic disc pallor, Athetosis	OMIM:617235
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
X-Linked Creatine Transporter Deficiency	Chorea, Aganglionic megacolon, Cachexia, Ptosis, Hypertonia, Ataxia, Short stature, Dystonia, Ath...	ORPHA:52503
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale	OMIM:247610
Warburg Micro Syndrome 1	Optic atrophy, Facial hypertrichosis, Failure to thrive, Hypertrichosis, Ptosis, Short stature, S...	OMIM:600118
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Ptosis, Gait disturbance, Ataxia	OMIM:125250
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Alg9-Cdg	Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnio...	ORPHA:79328
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Unilateral ptosis	OMIM:300928
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga...	ORPHA:227510
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hirsutism, Ataxia, Short stat...	OMIM:610185
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:98933
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Ataxia, Optic atrophy, Bilateral ptosis	ORPHA:329314
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Gait ataxia, Limb dysmetria, Dysmetria, Ptosis, Dysdiadochokinesis	ORPHA:324262
Leigh Syndrome, Nuclear	Optic atrophy, Spasticity, Failure to thrive, Hypertrichosis, Ptosis, Ataxia, Dystonia	OMIM:256000
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Ptosis, Horizontal eyebrow	OMIM:619311
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Spasticity, Ptosis, Spastic tetraparesis, Growth delay	OMIM:616154
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Machado-Joseph Disease	Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigidity, Dystonia, Babin...	OMIM:109150
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Ptosis, Gait ataxia, Abnormal autonomic nervous system physiology	OMIM:243180
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ptosis, Tremor, Ataxia	OMIM:618637
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Hand tremor, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Increased body weight,...	ORPHA:589905
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Ptosis, Periodic paralysis, Bilateral ptosis	OMIM:614198
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Broad-based gait, Bilateral ptosis, Difficulty walking, Dysmetria, Loss of ambulation, Babinski s...	OMIM:616479
Spinocerebellar Ataxia 28	Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Parkinsonism, Ptosis, Dystonia, Lower limb h...	OMIM:610246
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age	OMIM:278780
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, Sh...	OMIM:162100
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Shuffling gait, Cogwheel rigidity, Action tremor, Ptosis, Parkinsonism with favora...	ORPHA:254886
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Dyst...	ORPHA:13
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Ptosis, Torticollis, Writer's cramp, D...	OMIM:619724
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Fasciculations, Tortuosity of conjunctival vessels, Limb ataxia, D...	ORPHA:284289
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ...	ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Gait disturbance, Ataxia	ORPHA:99014
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Downslanted palpebral fissures, Postnatal growth retardation, Long eyelash...	OMIM:300590
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Hengel-Maroofian-Schols Syndrome	Spasticity, Inability to walk, Thick eyebrow, Upper motor neuron dysfunction, Gait imbalance, Epi...	OMIM:619641
Propionic Acidemia	Arrhythmia, Cardiomyopathy	ORPHA:35
Sclerosteosis	Optic atrophy, Ptosis, Fingernail dysplasia, Facial palsy	ORPHA:3152
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal left ventricle morphology, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	OMIM:300845
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Transaldolase Deficiency	Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrops fetalis, Edema	ORPHA:101028
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, A...	ORPHA:90117
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Bradycardia, Polyhydramnio...	OMIM:232500
Jaberi-Elahi Syndrome	Optic atrophy, Sparse eyebrow, Broad-based gait, Failure to thrive, Fine hair, Inability to walk,...	OMIM:617988
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d...	OMIM:213600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Abnormal left ventricular function, Cardiomyopathy, Calf muscle hypertrophy, ...	OMIM:613155
Myopathy With Extrapyramidal Signs	Optic atrophy, Frequent falls, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal ...	OMIM:615673
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture	ORPHA:98896
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign,...	OMIM:607694
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Failure to thrive, Babinski sign, Ptosis, Ataxia, Dystonia, Growth delay	OMIM:618226
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ...	ORPHA:1209
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Myasthenic Syndrome, Congenital, 23, Presynaptic	Ptosis, Frequent falls	OMIM:618197
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Facial palsy, Frequent falls, Degen...	OMIM:159950
Behr Syndrome	Optic atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unstea...	OMIM:210000
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou...	ORPHA:2326
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys	ORPHA:126
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Hemiplegia, Ptosis, Facial palsy	ORPHA:2743
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia,...	OMIM:612438
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Downslanted palpebral fissures, Postnatal growth retardation, Long eyelashes, Thick eyebrow, Obes...	ORPHA:480907
Birk-Landau-Perez Syndrome	Optic atrophy, Failure to thrive in infancy, Difficulty walking, Intrauterine growth retardation,...	OMIM:617595
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:619003
Dna2-Related Mitochondrial Dna Deletion Syndrome	Difficulty walking, Slender build, Gait disturbance, Congenital ptosis	ORPHA:352470
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U...	OMIM:213200
Trismus-Pseudocamptodactyly Syndrome	Short stature, Ptosis	ORPHA:3377
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Ring Chromosome 1 Syndrome	Abnormal hair pattern, Telecanthus, Ptosis, Downslanted palpebral fissures	ORPHA:1437
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon, Ptosis	OMIM:619465
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Coenzyme Q10 Deficiency, Primary, 4	Myoclonus, Tremor, Ptosis, Abnormal pyramidal sign, Ataxia	OMIM:612016
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ...	OMIM:302800
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Leukodystrophy, Hypomyelinating, 20	Hirsutism, Babinski sign, Ptosis, Hypertonia, Torticollis, Dystonia, Spastic tetraplegia	OMIM:619071
4H Leukodystrophy	Optic atrophy, Upper motor neuron dysfunction, Dysmetria, Tremor, Abnormality of extrapyramidal m...	ORPHA:289494
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers	ORPHA:70595
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid...	ORPHA:275872
Weiss-Kruszka Syndrome	Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures	ORPHA:502430
Autism, Susceptibility To, X-Linked 6	Obesity, Ptosis	OMIM:300872
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Inability to walk, Tremor, Ptosis, Dystonia, Choreoathetosis	OMIM:617664
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Ptosis, Oculomotor apraxia...	OMIM:614487
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Abnormal cranial nerve morphology, Gait ata...	ORPHA:247234
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Fasciculations, Facial diplegia, Clumsiness, Ptosis, Steppage gait, Frequent falls	ORPHA:521411
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Arthrogryposis, Distal, Type 7	Short stature, Ptosis	OMIM:158300
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Pelizaeus-Merzbacher Disease	Optic atrophy, Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Ina...	OMIM:312080
Spinal Muscular Atrophy, X-Linked 2	Tongue fasciculations, Decreased compound muscle action potential amplitude, Ptosis, Facial palsy...	OMIM:301830
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Tremor, Rigidity, Gait disturbance, Ataxia, Decreased ...	OMIM:603472
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Failure to thrive, Inability to walk, Facial diplegia, Hyperkinetic movements, Loss o...	OMIM:612073
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cerebral edema	OMIM:618321
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy...	ORPHA:119
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr...	OMIM:253800
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ...	ORPHA:66634
Waardenburg Syndrome Type 1	White hair, Premature graying of hair, Abnormal hair morphology, Telecanthus, Thick eyebrow, Whit...	ORPHA:894
Fazio-Londe Disease	Ptosis, Facial diplegia	OMIM:211500
Proximal Xq28 Duplication Syndrome	Epicanthus, Ptosis, Gait disturbance, Blepharophimosis, Short stature	ORPHA:1762
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia	OMIM:128235
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity...	OMIM:218000
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic nervo...	OMIM:300894
Charcot-Marie-Tooth Disease And Deafness	Gait disturbance, Steppage gait, Decreased motor nerve conduction velocity, Tremor	OMIM:118300
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity, Inability to walk, Low anterior hairlin...	OMIM:615663
Hec Syndrome	Polyhydramnios, Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin...	ORPHA:99750
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic...	OMIM:128100
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Ptosis, Facial palsy	OMIM:616322
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Ptosis	OMIM:616321
Wernicke-Korsakoff Syndrome	Ptosis, Ataxia	OMIM:277730
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Borjeson-Forssman-Lehmann Syndrome	Obesity, Ptosis, Delayed puberty, Blepharophimosis, Narrow palpebral fissure, Short stature	OMIM:301900
Autism Spectrum Disorder Due To Auts2 Deficiency	Highly arched eyebrow, Short palpebral fissure, Spasticity, Cerebral palsy, Bilateral ptosis, Ups...	ORPHA:352490
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Short stature, Epicanthus, Ptosis	ORPHA:1373
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Thick eyebrow, Ptosis, Blepharophimosis, Short stature, Frontalis muscle weakness, Synophrys	OMIM:210745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Oligohydramnios, Congenital diaphragmatic hernia, Hypoplasia of the diap...	OMIM:614437
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Ptosis, Abnormal eyel...	ORPHA:1660
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Ptosis, Facial palsy	OMIM:616325
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis, Short stature, Sparse hair	OMIM:619989
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat...	OMIM:607459
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Downslanted palpebral fissures, Long eyelashes, Low posterio...	OMIM:617523
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Dehydration	OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Failure to thrive, Loss of ambulation, Babinski sign, Ptosis, Gait disturbance, Ataxi...	OMIM:615838
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Intrauter

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