banner
Genes Phenotypes Help, News, Blog

Gene: Cap2 MGI:1914502

Log in to follow

Gene Summary

Name:
cyclase associated actin cytoskeleton regulatory protein 2
Synonyms:
2810452G09Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Cap2tm1b(EUCOMM)Wtsi HET Early adult 4.73×10-13
preweaning lethality, incomplete penetrance Cap2tm1b(EUCOMM)Wtsi HOM   Early adult 2.92×10-05
prolonged QT interval Cap2tm1b(EUCOMM)Wtsi HET Early adult 2.11×10-05
prolonged ST segment Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.53×10-06
abnormal locomotor activation Cap2tm1e(EUCOMM)Wtsi HET Early adult 1.17×10-05
cataract Cap2tm1e(EUCOMM)Wtsi HET Early adult 6.07×10-07
prolonged RR interval Cap2tm1b(EUCOMM)Wtsi HET Early adult 8.90×10-08
increased red blood cell distribution width Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.98×10-07
decreased circulating triglyceride level Cap2tm1e(EUCOMM)Wtsi HOM Early adult 5.51×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

28 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images

Human diseases caused by Cap2 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.

The table below shows human diseases associated to Cap2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154

The table below shows human diseases predicted to be associated to Cap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
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
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Cataract 44
Developmental cataract OMIM:616509
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
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
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
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
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
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
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Short stature, Dilated cardiomyopathy, Recurrent infections, Decreased body weight, Intrauterine ... OMIM:618097
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m... OMIM:620265
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Corneal dystrophy, Developmental cataract OMIM:271320
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Trichomegaly
Cataract OMIM:190330
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
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
Nathalie Syndrome
Abnormal EKG OMIM:255990
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Sudden death, Asymmetric septal hypertrophy, Subvalvular aortic stenosi... OMIM:192600
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Ethanolaminosis
Cardiomegaly OMIM:227150
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro... OMIM:615440
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... OMIM:602390
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Abdominal pain, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia OMIM:619324
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity OMIM:615981
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoart... ORPHA:1345
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Nathalie Syndrome
Cataract ORPHA:2663
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... OMIM:614702
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Myalgia, Arr... ORPHA:225
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Microp... OMIM:618805
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Intrauterine growth retardation OMIM:301021
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Sandhoff Disease
Congestive heart failure, Failure to thrive, Recurrent respiratory infections ORPHA:796
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Butyrylcholinesterase Deficiency
Chronic infection, Congestive heart failure, Myocardial infarction ORPHA:132
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Barth Syndrome
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... OMIM:302060
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Fa... OMIM:620233
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myop... OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
X-Linked Retinoschisis
Cataract ORPHA:792
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy... OMIM:300842
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Failure to thrive OMIM:619651
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Cataract 47
Microcornea, Cataract OMIM:612018
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Chronic mucocutaneous candidiasis, Abnormal left ventricular fun... ORPHA:36913
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Abdominal pain OMIM:616794
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Sudden death, Right bundle branch block, S... OMIM:113900
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Galactosemia Ii
Cataract OMIM:230200
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to... OMIM:618234
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Failure to thrive, Pulmonary arterial hypertension, Intrauterine growth... OMIM:616045
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Stuve-Wiedemann Syndrome 2
Eczema, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hypertension, In... OMIM:619751
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Developmental cataract, Abnormal left v... OMIM:540000
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Arthralgia, Myalgia, Constitutional symptom, Serositis, Malar... ORPHA:231111
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Obesity, Abnormal car... ORPHA:589821
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Failure to thrive, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Mulibrey Nanism
Short stature, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Gr... OMIM:253250
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy ORPHA:91130
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar... ORPHA:2119
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Corneal opacity, Large for gestational age, Microcornea, Microp... ORPHA:2432
Isolated Atp Synthase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Obesity, Myocardial infarction OMIM:615703
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly OMIM:610717
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight... OMIM:164310
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia OMIM:610768
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... ORPHA:79102
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Growth delay, Abnormal aortic valv... ORPHA:1194
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... OMIM:620351
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia ORPHA:157973
Leukoencephalopathy With Vanishing White Matter 2
Unsteady gait, Cataract OMIM:620312
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Rett Syndrome
Abnormal T-wave, Cachexia, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Babesiosis
Fatigue, Myocardial infarction, Congestive heart failure, Recurrent pharyngitis, Recurrent infect... ORPHA:108
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Failure to thrive, Myopathy ORPHA:26792
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Shoulder pain, Congestive heart failure, Arthritis, Neck pain, Pain,... ORPHA:85446
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Necrotizing Enterocolitis
Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension ORPHA:391673
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
American Trypanosomiasis
Skin rash, Abdominal pain, Myocarditis, Congestive heart failure, Cardiomyopathy, Myalgia, Arrhyt... ORPHA:3386
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Hematoch... OMIM:615895
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Non-Functioning Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight loss, Che... ORPHA:94080
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology ORPHA:70472
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Gangrene, Sinusitis, Epistaxis, Increase... ORPHA:727
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Cednik Syndrome
Congestive heart failure, Short stature ORPHA:66631
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
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 Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive OMIM:269920
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A... ORPHA:42
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Gitelman Syndrome
Prolonged QT interval, Fatigue, Abdominal pain, Ventricular tachycardia, Growth delay, Arthralgia... OMIM:263800
Collagenoma, Familial Cutaneous
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... OMIM:115250
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Arthralgia, Fatigue, Ab... ORPHA:183
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Generalized Pustular Psoriasis
Fatigue, Pustule, Congestive heart failure, Overweight, Cheilitis, Uveitis, Obesity, Sepsis, Arth... ORPHA:247353
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... OMIM:615418
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... ORPHA:90068
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Arthralgia, Chest... ORPHA:206569
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98863
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Bradycardia, Cerebral hemorrhage OMIM:617397
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Bradycardia, Skeletal muscle atrophy OMIM:619272
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Exercise intolerance, Atrial flutter, Tachycardia, Atrial fibrill... ORPHA:137675
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... OMIM:602668
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Arth... ORPHA:324
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Growth delay, Microphthalmia, F... ORPHA:1617
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Alstrom Syndrome
Chronic active hepatitis, Short stature, Congestive heart failure, Dilated cardiomyopathy, Recurr... OMIM:203800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Subaortic Stenosis-Short Stature Syndrome
Short stature, Acne, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis... ORPHA:3191
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... OMIM:224050
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
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Absence Of The Pulmonary Artery
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bronchiectasis, Abnormal ... ORPHA:980
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Vici Syndrome
Recurrent respiratory infections, Failure to thrive, Cataract, Recurrent viral infections, Postna... OMIM:242840
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Growth delay, Pulmonic steno... ORPHA:2414
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Uveitis, Buphthalmos, Microcornea... OMIM:221900
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276556
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Large for gestational age ORPHA:226313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Classic Multiminicore Myopathy
Short stature, Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Failur... ORPHA:324604
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Failure to thrive ORPHA:67048
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive ORPHA:772
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H... ORPHA:255210
Lyme Disease
Fatigue, Meningitis, Atrioventricular block, Uveitis, Arthritis, Arthralgia, Myalgia, Arrhythmia,... ORPHA:91546
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Failure to thrive, Short stature OMIM:300352
Parkinson Disease 17
Akinesia OMIM:614203
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Short stature, Hip pain, Congestive heart failure, Cardiomyopathy ORPHA:52430
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Atransferrinemia
Congestive heart failure OMIM:209300
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... ORPHA:31826
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276575
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Growth delay, Microcornea, Microphthalmia ORPHA:2528
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Corneal dystro... OMIM:301500
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent... OMIM:610131
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Cataract, Small for gestational age OMIM:278780
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276580
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Cataract, Short stature, Chest pain, Conjunctivitis ORPHA:94089
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Failure to thrive ORPHA:500533
Beta-Thalassemia Major
Hepatomegaly, Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive... ORPHA:231214
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Alagille Syndrome
Keratoconus, Ventricular septal defect, Telangiectasia of the skin, Corneal dystrophy, Abnormal p... ORPHA:52
Hemochromatosis, Type 4
Fatigue, Cataract, Osteoarthritis, Cardiomyopathy, Arthralgia, Arrhythmia OMIM:606069
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Portal hypertension, Cardiomegaly, Abdominal pain, Congestive heart failure, Weight loss... ORPHA:465508
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb... ORPHA:848
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol... ORPHA:3243
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... ORPHA:565612
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Short stature, Obesity ORPHA:3077
Spinal Arteriovenous Metameric Syndrome
Fatigue, Congestive heart failure, Bone pain, Arthralgia, Gangrene ORPHA:53721
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Postnatal growth retardation, Optic nerve... OMIM:620029
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Mitochondrial Trifunctional Protein Deficiency
Exercise intolerance, Rigors, Tricuspid regurgitation, Failure to thrive in infancy, Congestive h... ORPHA:746
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Usher Syndrome Type 3
Cataract, Ataxia, Astigmatism, Iris hypopigmentation ORPHA:231183
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Recurrent viral infecti... OMIM:619573
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Truncal obesity, Failure to thrive in infancy, Pulmonic stenosis ORPHA:529962
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Ocular pain, Abnormal pupil morphology, Hyphema, Abnormal ... ORPHA:209959
Hurler-Scheie Syndrome
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly ORPHA:93476
Seckel Syndrome 2
Short stature, Small for gestational age, Heart murmur, Growth delay, Microphthalmia OMIM:606744
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Short stature ORPHA:261519
Uveal Melanoma
Iris melanoma, Ocular pain, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Inf... ORPHA:39044
Avian Influenza
Fatigue, Pneumonia, Abdominal pain, Congestive heart failure, Meningitis, Hepatitis, Sepsis, Ches... ORPHA:454836
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Pulmonary arterial hypertension, Atrial septal defect, Mi... OMIM:300887
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Exercise intolerance, Bicuspid aortic ... ORPHA:363705
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... OMIM:264800
Arterial Tortuosity Syndrome
Fatigue, Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Short stature, Corneal opacity, Cong... ORPHA:354
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Membranoproliferative glomerulonephritis, Vir... ORPHA:91139
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Congestive heart failure, Tachycardia ORPHA:90037
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Short stature, Small for gestational age, Minimal change glomeruloneph... ORPHA:1830
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Dilated cardiomyopathy OMIM:613989
Kawasaki Disease
Fatigue, Pericarditis, Abnormal heart valve morphology, Skin rash, Abdominal pain, Myocarditis, C... ORPHA:2331
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal... ORPHA:1764
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Cataract, Short stature, Obesity, Chest pain, Conjunctivitis ORPHA:79444
Nanophthalmos
Microphthalmia, Abnormal choroid morphology ORPHA:35612
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Pediatric-Onset Graves Disease
Episcleritis, Atrial fibrillation, Keratitis, Congestive heart failure, Hypertension, Palpitation... ORPHA:525731
Martsolf Syndrome 1
Recurrent respiratory infections, Cataract, Short stature, Cardiac arrest, Congestive heart failu... OMIM:212720
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Decreased body weight, Fail... ORPHA:89842
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Retinitis Pigmentosa 40
Cataract OMIM:613801
Microphthalmia, Syndromic 13
Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Laubry-Pezzi Syndrome
Aortic regurgitation, Fatigue, Aortic valve prolapse, Mildly reduced left ventricular ejection fr... ORPHA:99094
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Scimitar Syndrome
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Dextrocardia, M... ORPHA:185
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Short stature, Microcornea, Microphthalmia, Intrauterine growth retardation OMIM:616171
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Myopathy, Tubular Aggregate, 1
Exercise-induced myalgia, Abnormal pupil morphology OMIM:160565
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Microphthalmia OMIM:615524
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat... OMIM:610505
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:615297
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
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
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Congenital Rubella Syndrome
Cataract, Ventricular septal defect, Short stature, Skin rash, Corneal opacity, Aplasia/Hypoplasi... ORPHA:290
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Hypotension ORPHA:20
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... ORPHA:99931
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight loss, Che... ORPHA:276621
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Chorioretinal coloboma, Micro... OMIM:243310
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Listeriosis
Back pain, Sepsis, Arthralgia, Conjunctivitis, Cholecystitis, Chills, Infectious encephalitis, Me... ORPHA:533
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Cataract, Short stature, Band keratopathy, Obesity, Hypertension, Chest pa... ORPHA:79443
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Alexander Disease
Fatigue, Microcoria OMIM:203450
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight loss, Che... ORPHA:29072
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... ORPHA:97214
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations, Weight loss OMIM:188580
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia, Failure to thrive OMIM:274270
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val... ORPHA:90308
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Short stature, Corn... ORPHA:579
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy ORPHA:1215
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Muscle hypertrophy of the low... ORPHA:1772
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Aniridia 3
Aniridia, Cataract OMIM:617142
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Failure to thrive, Hepatomegaly ORPHA:2394
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
Short Syndrome
Posterior embryotoxon, Severe short stature, Corneal opacity, Abnormal pupil morphology, Weight l... ORPHA:3163
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Cataract, Congestiv... ORPHA:508542
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Dietary Iron Overload Disease
Viral hepatitis, Chronic infection, Congestive heart failure, Peritonitis, Hepatitis, Abnormal he... ORPHA:139507
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Eczema, Portal hypertension, Abdominal pain, Raynaud phenomenon, Erythema nodosum, Vas... OMIM:615688
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Atrophoderma Vermiculata
Heart block, Pain ORPHA:79100
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Arthralgia, Colitis, Abdominal pain, Ra... ORPHA:3260
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Myalgia, Pancreatitis ORPHA:2348
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Congestive heart failure, Recurrent bronchopulmonary infections... OMIM:617303
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... OMIM:616897
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive OMIM:201470
Aarskog-Scott Syndrome
Congestive heart failure, Megalocornea, Short stature ORPHA:915
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Severe short stature, Rhizomelia, Urinary incontinence, Bowel incontinence, Conges... OMIM:616482
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... OMIM:239850
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Shor... OMIM:601808
Cat-Eye Syndrome
Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Infant Botulism
Cardiac arrest, Bowel incontinence, Abdominal pain, Hypertension, Keratoconjunctivitis sicca, Hyp... ORPHA:178478
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Heart murmur, Recurrent otitis media, Atrial septal defect, Microph... ORPHA:2728
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Congestive heart failure, Tachycardia, Arthralgia ORPHA:90033
Cofs Syndrome
Microphthalmia, Cataract, Short stature, Intrauterine growth retardation ORPHA:1466
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Myalgia, Hypertrophic cardiomyopathy, Pancreatitis ORPHA:79083
Congenital Fibrinogen Deficiency
Tachycardia, Abdominal pain, Developmental cataract, Left ventricular hypertrophy, Microphthalmia... ORPHA:335
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia ORPHA:93400
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Congenital Myopathy 9A
Akinesia OMIM:618822
Refsum Disease
Heart block, Cardiomyopathy, Cataract, Microphthalmia ORPHA:773
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Abdominal pain, Congestive heart failure, Weight loss, Chest pai... ORPHA:67
Multiple Acyl-Coa Dehydrogenase Deficiency
Exercise intolerance, Acute pancreatitis, Congestive heart failure, Abnormal heart morphology, Ca... ORPHA:26791
Hutchinson-Gilford Progeria Syndrome
Growth delay, Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Congestive heart failure, Recurrent pneumonia, Recurrent infections, Growth... OMIM:616271
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Inflammatory abnormality of the skin, Recurrent herpes, Short s... ORPHA:391487
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Small for gestational age, Disproportionate sh... OMIM:166210
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Congestive heart failure, Short stature, Microcornea ORPHA:2505
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... ORPHA:449285
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Tetrasomy 5P
Recurrent respiratory infections, Postnatal growth retardation, Congestive heart failure, Heart m... ORPHA:3309
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Dilated cardiomyopathy OMIM:616541
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Short stature, Right bundle branch block, Growth delay, Mitral regurgita... OMIM:619576
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy... ORPHA:369840
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Weight loss ORPHA:221098
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Short stature, Myocardial infarction, Failure to th... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Short stature, Myocardial infarction, Failure to th... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Short stature, Myocardial infarction, Failure to th... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Short stature, Myocardial infarction, Failure to th... ORPHA:881
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Botulism
Fatigue, Arrhythmia, Mydriasis, Abdominal pain ORPHA:1267
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Pierpont Syndrome
Short stature, Microcornea, Decreased body weight, Microphthalmia, Failure to thrive OMIM:602342
Warburg Micro Syndrome 1
Short stature, Developmental cataract, Microcornea, Microphthalmia, Failure to thrive OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Muckle-Wells Syndrome
Episcleritis, Short stature, Skin rash, Abdominal pain, Vasculitis, Uveitis, Arthritis, Arthralgi... ORPHA:575
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:528
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Mucopolysaccharidosis, Type Ii
Severe short stature, Abnormal heart valve morphology, Short stature, Congestive heart failure, R... OMIM:309900
Hyperkalemic Periodic Paralysis
Bowel incontinence, Congestive heart failure, Chest pain, Myalgia, Arrhythmia ORPHA:682
D-Glyceric Aciduria
Failure to thrive, Bradycardia OMIM:220120
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Abnormal heart valve morphology, Skin rash, Abdominal pain, Pericardial effusion, M... ORPHA:36412
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Tricuspid regurgitation, Anophthalmia, Severe short stature, Chorioretinal... ORPHA:2556
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Congenital Varicella Syndrome
Microphthalmia, Cataract, Intrauterine growth retardation ORPHA:291
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Left-to-right shunt, Ventricular septal defe... ORPHA:99050
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Bradycardia, Hypotension, Dec... ORPHA:90051
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Flexion contracture, Intracranial hemorrhage, Camptodactyly,... ORPHA:86309
Cataract 48
Cataract OMIM:618415
Incontinentia Pigmenti
Cataract, Telangiectasia of the skin, Short stature, Skin rash, Abnormal chorioretinal morphology... ORPHA:464
Congenital Disorder Of Glycosylation, Type Iie
Short stature, Secundum atrial septal defect, Congestive heart failure, Recurrent infections, Gro... OMIM:608779
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Limb ataxia, Dysmetria, Tortuosity of conjunctival vessels, Progressive cerebellar atax... ORPHA:284289
Whipple Disease
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Myositis, Myocardial infarction, Abdominal pa... ORPHA:3452
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Arthralgia, Conjunctivitis, Cholecystiti... ORPHA:99827
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Cataract, Ventricular septal defect OMIM:613730
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Short stature, Secundum atrial septal defect... ORPHA:1600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Ventricular septal defect, Short stature, Proportionate short stature, Le... OMIM:608328
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, A... ORPHA:48435
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,... ORPHA:505248
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Ocular... ORPHA:98973
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen... ORPHA:54
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Postnatal growth retardation, Abnormal heart morphology, Astigmatism, ... ORPHA:494344
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... ORPHA:94093
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Temtamy Syndrome
Aortic regurgitation, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris... OMIM:218340
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... ORPHA:485405
Fucosidosis
Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly ORPHA:349
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Cardiomyopathy, Microphthalmia, Me... ORPHA:370959
Pierpont Syndrome
Microcornea, Microphthalmia, Small for gestational age ORPHA:487825
Biemond Syndrome Type 2
Microphthalmia, Short stature, Obesity, Delayed puberty ORPHA:141333
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... OMIM:618397
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Microcornea, Microphthalmia, Intrauterine growth retardation ORPHA:48431
Scrub Typhus
Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Meningitis, Myalgia, Hypotension, Gangr... ORPHA:83317
Erdheim-Chester Disease
Fatigue, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Abdominal pain, Congestive he... ORPHA:35687
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Cataract, Disproportion... ORPHA:85194
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... ORPHA:3426
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... OMIM:612561
Acquired Idiopathic Sideroblastic Anemia
Chronic infection, Congestive heart failure ORPHA:75564
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia, Cataract, Ventricular septal defect ORPHA:93267
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Chest pain, Bacterial endocarditis ORPHA:1054
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Nocardiosis
Lymphadenitis, Sepsis, Conjunctivitis, Chills, Infectious encephalitis, Meningitis, Fatigue, Brai... ORPHA:31204
Neutral Lipid Storage Myopathy
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... ORPHA:98908
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Arthritis, Arthralgia, Pulmonary arterial h... ORPHA:220393
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Myal... ORPHA:280365
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Plague
Chapped lip, Lymphadenitis, Sepsis, Acute infectious pneumonia, Inflammation of the large intesti... ORPHA:707
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cardiomegaly, Congestive heart failure, Recurrent pneumonia, Heart murmur, ... OMIM:252500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract, Short stature, Chorioretinal dysplasia OMIM:251270
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Leigh Syndrome
Cataract, Ventricular septal defect, Eczema, Congestive heart failure, Severe viral infection, Gr... ORPHA:506
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Cataract 24
Anterior polar cataract OMIM:601202
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Failure to thrive, Bradycardia ORPHA:90674
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... ORPHA:2463
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Short stature, Sclerocornea, C... OMIM:309801
Werner Syndrome
Cataract, Short stature, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail... ORPHA:902
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Uveitis, Developmental cataract, Atrial s... OMIM:617044
Iatrogenic Botulism
Fatigue, Orthostatic hypotension, Mydriasis ORPHA:254509
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Sandestig-Stefanova Syndrome
Small for gestational age, Muscular ventricular septal defect, Developmental cataract, Perimembra... OMIM:618804
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... ORPHA:231222
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Dilated cardiomyopathy,... ORPHA:79404
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Congestive heart failure, Vasculitis, Retinal he... ORPHA:33226
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Developmental cataract, Growth delay, Microphthalmia, Intrau... OMIM:610756
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract, Episodic hype... OMIM:171300
Marfan Syndrome
Mitral valve calcification, Arthralgia/arthritis, Chronic fatigue, Flat cornea, Cachexia, Lens lu... ORPHA:558
Nanophthalmos 4
Microphthalmia OMIM:615972
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Re... ORPHA:542323
Foodborne Botulism
Arrhythmia, Mydriasis, Abdominal pain ORPHA:228371
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation OMIM:619355
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Cutis Marmorata Telangiectatica Congenita
Hypertension, Leukocoria, Telangiectasia OMIM:219250
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope, Anemia ORPHA:230
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... OMIM:617506
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Cataract, Recurrent urinary tract in... ORPHA:90349
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Shigellosis
Fatigue, Failure to thrive in infancy, Pneumonia, Abdominal pain, Myocarditis, Peritonitis, Sepsi... ORPHA:810
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Vitreoretinochoroidopathy
Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul... OMIM:193220
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Falls, Gait imbalance, Akinesia ORPHA:240071
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Short stature, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to t... OMIM:257850
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Severe short stature, Congestive heart failure, Hype... OMIM:617253
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Cataract OMIM:612674
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Short stature, Cardiomegaly, Erythema nodosum, Congestive heart failure, Epididymit... OMIM:256040
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... OMIM:617402
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Trichothiodystrophy 1, Photosensitive
Cataract, Short stature, Small for gestational age, Telangiectasia, Microcornea, Recurrent infect... OMIM:601675
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Achalasia, Short stature, Orthostatic hypotension OMIM:231550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Cataract, Corneal opacity OMIM:613153
Scalp-Ear-Nipple Syndrome
Cataract, Short stature, Cardiac myxoma, Congestive heart failure, Pyelonephritis, Anisocoria, Hy... OMIM:181270
Trisomy 13
Anophthalmia, Ventricular septal defect, Cataract, Aplasia/Hypoplasia of the iris, Atrial septal ... ORPHA:3378
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Trichinellosis
Skin rash, Ocular pain, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology,... ORPHA:863
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Skin rash, Uveitis, Arthritis, Arthralgia, Myalgia, Conjunctivitis, Chills OMIM:120100
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Cerebrooculofacioskeletal Syndrome 1
Cataract, Small for gestational age, Recurrent pneumonia, Microphthalmia, Failure to thrive OMIM:214150
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy OMIM:618839
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Astigmatism, Decreased body wei... OMIM:609053
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Dyspepsia, Abdominal pain, Congestive heart failure, Weight loss, Hy... ORPHA:85450
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Parathyroid Carcinoma
Fatigue, Shortened QT interval, Bone pain, Episodic abdominal pain, Weight loss, Mandibular pain,... ORPHA:143
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Trichothiodystrophy 3, Photosensitive
Cataract, Short stature, Developmental cataract, Recurrent infections, Microphthalmia, Failure to... OMIM:616395
Primary Sclerosing Cholangitis
Fatigue, Recurrent systemic pyogenic infections, Portal hypertension, Spider hemangioma, Abdomina... ORPHA:171
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Bresek Syndrome
Optic nerve hypoplasia, Growth delay, Neonatal death, Microphthalmia, Iris coloboma, Intrauterine... ORPHA:85284
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Heart murmur, Recurrent infections, Anisocoria, Patent foramen ovale OMIM:618653
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Abdominal pain, Arthralgia, Juvenile rheumatoid arthritis ORPHA:85414
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, Recurrent pharyngitis, Pe... ORPHA:32960
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Back pain, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthe... OMIM:106300
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Retinal he... OMIM:609049
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Growth delay, Keratoconjunctivitis sicca, Punctate keratitis, Failure to th... OMIM:617388
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Ventricular septal defect, Recurrent pneumonia, Microcornea, Pulmonary arterial hyperte... OMIM:616449
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intra... ORPHA:98907
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect OMIM:602501
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Cataract, Short stature, Corneal dystrophy, Sclerocornea, Micro... ORPHA:1806
African Trypanosomiasis
Fatigue, Abnormal EKG, Pericarditis, Rigors, Urinary incontinence, Keratitis, Myocarditis, Conges... ORPHA:3385
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Failure to thrive, M... ORPHA:2131
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Granulomatosis With Polyangiitis
Fatigue, Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Loc... OMIM:608710
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Cataract, Band keratopathy, Chronic infection, Vasculi... ORPHA:279914
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microp... OMIM:153400
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Abnormal heart morphology, Recurrent otitis media, Atrial septal defec... OMIM:618494
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu... OMIM:614700
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Ocular pain, Anisocoria, Posterior s... ORPHA:263479
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth... ORPHA:85410
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Ectopia pupillae, Pulmonic stenosis, Atrial septal defect, Double outlet right ven... OMIM:618223
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Microcornea ORPHA:1900
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo... ORPHA:79086
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi... OMIM:152950
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Uveitis, Persis... OMIM:615122
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Abnorm... ORPHA:137667
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Cataract, Abnormal pulmonary valve morphology, Po... ORPHA:974
Fetal Akinesia Deformation Sequence
Pterygium, Akinesia ORPHA:994
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Cat Eye Syndrome
Ventricular septal defect, Short stature, Hypoplastic left heart, Total anomalous pulmonary venou... OMIM:115470
Stiff-Person Syndrome
Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia... OMIM:184850
Monosomy 18P
Microphthalmia, Hypertension, Short stature ORPHA:1598
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Recurrent infections OMIM:618590
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
1P36 Deletion Syndrome
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopat... ORPHA:1606
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... ORPHA:233
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Short stature OMIM:619318
Relapsing Polychondritis
Abnormal endocardium morphology, Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Kerat... ORPHA:728
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot, Cataract OMIM:136760
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Neonatal dea... OMIM:608013
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent respiratory infections, Recurrent urinary tract infections, Mydriasis, Hypoperistalsis OMIM:619365
Bloom Syndrome
Recurrent herpes, Recurrent urinary tract infections, Skin rash, Pneumonia, Small for gestational... ORPHA:125
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Choreoacanthocytosis
Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Weight loss, Myopath... ORPHA:2388
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Short stature, Microcornea, Iris transillumination defect, Decreased body weight, Micro... OMIM:617306
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Obesity ORPHA:91355
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Failur... ORPHA:444072
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Pterygium, Akinesia OMIM:225790
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Multiple pterygia OMIM:253290
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Microphthalmia, Failure to thrive, Iris coloboma ORPHA:2328
Hallermann-Streiff Syndrome
Proportionate short stature, Congestive heart failure, Uveitis, Developmental cataract, Microphth... ORPHA:2108
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Otitis media, Chorioretinal coloboma, Juvenile cataract, Iris c... OMIM:619475
Autosomal Dominant Hypocalcemia
Eczema, Abdominal pain, Congestive heart failure, Hypotension, Arrhythmia ORPHA:428
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Sclerocornea, Growth delay, Microphthalmia, Iris coloboma ORPHA:77298
Oculopalatocerebral Syndrome
Microphthalmia, Short stature, Leukocoria OMIM:257910
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Shortened QT interval, Bone pain, Episodic abdominal pain, Mandibular pain, Pancreatitis ORPHA:99880
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Joubert Syndrome 14
Ventricular septal defect, Intracranial hemorrhage, Hypertension, Growth delay, Microphthalmia OMIM:614424
Meckel Syndrome, Type 8
Pericardial effusion, Microphthalmia, Anophthalmia OMIM:613885
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Cataract, Chorioretinal atrophy, Vitreous hemorrhage, Retinal neovascular... ORPHA:891
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Cataract, Ectopia lentis, C... OMIM:154700
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Postnatal growth retardation, Congestive heart failure, Di... ORPHA:90348
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Failure to thrive, Eczema, Cataract OMIM:612379
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Cataract, Short stature, Corneal opacity, Chorioretinal dysplas... ORPHA:534
Frontofacionasal Dysplasia
Cataract, Short stature, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo... ORPHA:1791
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... OMIM:193235
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature OMIM:614833
Tsh-Secreting Pituitary Adenoma
Fatigue, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss... ORPHA:91347
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Coats Disease
Leukocoria, Retinal telangiectasia OMIM:300216
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature, Corneal opacity ORPHA:2788
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension, Mydriasis ORPHA:43116
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Mitral valve prolapse, Microcornea, Abnormal cardiac septum morphology,... ORPHA:2712
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
3Q29 Microdeletion Syndrome
Cataract, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Microphthalmia, Failure t... ORPHA:65286
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Keratoconjunctivitis sicca, Corneal ulceration, Myalgia, ... ORPHA:14
Cerebrooculofacioskeletal Syndrome 4
Short stature, Failure to thrive in infancy, Bilateral microphthalmos, Abnormal heart morphology,... OMIM:610758
Triosephosphate Isomerase Deficiency
Congestive heart failure, Failure to thrive, Cholecystitis OMIM:615512
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Corneal opacity, Ectopia pupillae, Lens subluxation, Microphtha... ORPHA:85167
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Microphthalmia, ... ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Geleophysic Dysplasia 1
Short stature, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis OMIM:231050
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... ORPHA:139471
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Growth delay, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Hypertension, Atrial septal defect, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Recurrent upper respiratory tract infections... ORPHA:2399
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F... ORPHA:416
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Cataract, Small for gestational age, Proportionate short statur... OMIM:234100
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Abdominal pain, Conjunctival hypere... ORPHA:509
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia, Intrauterine growth retardation ORPHA:1438
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Obesity ORPHA:363741
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Achalasia, Orthostatic hypotension OMIM:615510
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Atrioventricular canal defect, Chorioretinal coloboma OMIM:619135
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Obesity OMIM:601794
Pelvis-Shoulder Dysplasia
Back pain, Short stature, Opacification of the corneal stroma, Microphthalmia, Iris coloboma OMIM:169550
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Macroglossia, Bradycardia ORPHA:226307
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber, Retinal neovascularization OMIM:305390
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Mowat-Wilson Syndrome
Cataract, Ventricular septal defect, Short stature, Abnormal heart morphology, Microcornea, Ectop... OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pyelonephritis, Recurrent infections, Bidirectional shunt, Elevated pulmonary artery... OMIM:619351
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Short stature, Severe short stature, Bilateral microphth... OMIM:601186
Congenital Myopathy 12
Akinesia OMIM:612540
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Bronchiectasis, Uveitis, Chest pain, Pulmonary arterial hypertension OMIM:612387
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Bilateral microphthalmos, Abnormal heart morphology, Oc... ORPHA:369891
Cinca Syndrome
Fatigue, Retrobulbar optic neuritis, Meningitis, Uveitis, Growth delay, Arthralgia, Myalgia, Infl... ORPHA:1451
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Oculo-Palato-Cerebral Syndrome
Cataract, Short stature, Leukocoria, Microphthalmia, Intrauterine growth retardation ORPHA:2714
Transketolase Deficiency
Cataract, Ventricular septal defect, Proportionate short stature, Seborrheic dermatitis, Uveitis,... ORPHA:488618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Pituitary Apoplexy
Fatigue, Trigeminal neuralgia, Hypertension, Hypotension, Mydriasis ORPHA:95613
Cohen Syndrome
Chorioretinal dystrophy, Ventricular septal defect, Short stature, Failure to thrive in infancy, ... ORPHA:193
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Arthralgia, Atrial septal defect, Chr... ORPHA:904
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia, Recurrent urinary tract infections OMIM:611961
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Kapur-Toriello Syndrome
Cataract, Ventricular septal defect, Atrial septal defect, Microphthalmia, Iris coloboma, Intraut... OMIM:244300
3P25.3 Microdeletion Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Brucellosis
Knee osteoarthritis, Arthralgia, Chills, Infectious encephalitis, Fatigue, Abdominal pain, Epidid... ORPHA:1304
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
Warburg Micro Syndrome 3
Cataract, Postnatal growth retardation, Developmental cataract, Microcornea, Shallow anterior cha... OMIM:614222
Warburg Micro Syndrome 4
Short stature, Developmental cataract, Microcornea, Severe postnatal growth retardation, Micropht... OMIM:615663
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Failure to thrive OMIM:230000
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Failure to thrive, Bradycardia OMIM:617248
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Back pain, Anterior uveitis, Dilatation of the ventricular cavity, Knee ost... ORPHA:85438
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:212550
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Short stature, Abnormal heart morphology, Astigmatism, Microphthalmia OMIM:618571
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Primary c... OMIM:105650
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Microcorne... OMIM:612109
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Hartsfield Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2117
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Flank pain, Tubulointerstitial nephritis, Arthralgia, Posterior uve... ORPHA:91500
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Keratoconus, Congestive heart failure, Recurrent pneumonia, Arterial... OMIM:225400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:231736
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture ORPHA:79408
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Ventricular septal defect, Short stature, Congestive heart failure, Obesity, Abnormal h... ORPHA:444077
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Sclerocornea, Limbal dermoid, Hypoplasia of the iris, Subvalvular aort... OMIM:613001
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Cahmr Syndrome
Lamellar cataract OMIM:211770
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Microcornea, Macular hypoplasia, Cho... OMIM:147791
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Failure to thrive, Intrauterine growth retardation OMIM:617156
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Cockayne Syndrome Type 1
Anophthalmia, Cataract, Postnatal growth retardation, Uveitis, Hypertension, Conjunctivitis, Fail... ORPHA:90321
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Arthralgia, Esophagitis, Arrhythmi... ORPHA:90289
Superficial Siderosis
Back pain, Anisocoria, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Hypo... OMIM:175780
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism, Intrauterine growth retardation ORPHA:1352
Joubert Syndrome 37
Microphthalmia, Short stature, Obesity OMIM:619185
Cinca Syndrome
Skin rash, Uveitis, Growth delay, Arthritis, Meningitis OMIM:607115
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Small for gestational age, Pulmonic stenosis, Left ventricular hypertrophy, Microp... OMIM:619148
Oculodentodigital Dysplasia
Cataract, Uveitis, Microcornea, Atrial septal defect, Microphthalmia, Arrhythmia OMIM:164200
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Hypo... ORPHA:790
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Corneal opacity, Abdominal pain, Ectopia l... ORPHA:2092
Cockayne Syndrome B
Severe short stature, Small for gestational age, Postnatal growth retardation, Developmental cata... OMIM:133540
Arachnoid Cyst
Back pain, Urinary incontinence, Subarachnoid hemorrhage, Abdominal pain, Severe infection, Sciat... ORPHA:2356
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Dextrocardia, Intrauterine growth retardation OMIM:248700
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Developmental cataract, Microcornea, Pulmonary ar... ORPHA:464738
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
1Q21.1 Microdeletion Syndrome
Cataract, Short stature, Abnormal cardiac septum morphology, Microphthalmia, Failure to thrive, I... ORPHA:250989
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle... ORPHA:1467
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Cachexia, Scl... ORPHA:649
Trichothiodystrophy
Congenital exfoliative erythroderma, Ventricular septal defect, Eczema, Recurrent bronchopulmonar... ORPHA:33364
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Short stature, Microcornea, Severe postnatal growth retardation, Erythroderma, Micropht... ORPHA:35173
Microphthalmia With Limb Anomalies
Anophthalmia, Postnatal growth retardation, Growth delay, Microphthalmia, Failure to thrive OMIM:206920
Rodrigues Blindness
Microcornea, Microphthalmia, Short stature, Sclerocornea OMIM:268320
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Abnormal pupil morphology, Microcornea, Iris colobom... ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Achalasia OMIM:300858
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Peters anomaly OMIM:614526
Spinocerebellar Ataxia Type 7
Congestive heart failure, Failure to thrive ORPHA:94147
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Short stature OMIM:617883
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Papillorenal Syndrome
Cataract, Short stature, Lens luxation, Chorioretinal atrophy, Hypertension, Microphthalmia OMIM:120330
Ogden Syndrome
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... OMIM:300855
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Chorioretinitis, Panuveitis, Panniculitis, ... OMIM:301081
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Cockayne Syndrome Type 3
Cataract, Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Microcornea... ORPHA:90324
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Achalasia ORPHA:289483
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos, Mitral valve prolapse, Failure to thrive, Iris coloboma OMIM:618874
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Galloway-Mowat Syndrome 3
Short stature, Hypertension, Microphthalmia, Failure to thrive, Intrauterine growth retardation OMIM:617729
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Reduced ... ORPHA:99829
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Failure to thrive, Short stature OMIM:602361
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postnatal growth retardation, Erythroderma, Microphthalmia, Failure to thrive OMIM:302960
Meckel Syndrome, Type 4
Atrial septal defect, Microphthalmia, Ventricular septal defect, Intrauterine growth retardation OMIM:611134
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Portal hypertension, Recurrent infections, Pulmonary arterial hypertension, Severe post... OMIM:620005
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Walker-Warburg Syndrome
Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Cataract, Microcornea, Microphthalmia, Ir... ORPHA:899
Bickerstaff Brainstem Encephalitis
Pneumonia, Severe infection, Anisocoria, Recurrent gastroenteritis, Pain, Mydriasis ORPHA:79138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Recurrent bacterial infections, Severe intrauterine... OMIM:241410
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Ventricular septal defect OMIM:616920
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Telangiectasia of the skin, Leukocoria ORPHA:1556
Atypical Werner Syndrome
Failure to thrive, Telangiectasia of the skin, Short stature, Congestive heart failure, Aortic va... ORPHA:79474
Mend Syndrome
Cataract, Short stature, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis, Failur... ORPHA:401973
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Short stature, Corneal opacity, Growth delay, Subvalvular aortic ... ORPHA:1052
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Incontinentia Pigmenti
Hypoplasia of the fovea, Cataract, Short stature, Maculopapular exanthema, Keratitis, Retinal hem... OMIM:308300
Trisomy 18
Cataract, Ventricular septal defect, Short stature, Cachexia, Growth delay, Microcornea, Atrial s... ORPHA:3380
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Warburg Micro Syndrome 2
Cataract, Postnatal growth retardation, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ventricular septal defect, Short stature, Small for gestational age, Growth delay... OMIM:194190
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, E... ORPHA:85408
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract ORPHA:45358
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Dubowitz Syndrome
Short stature, Eczema, Postnatal growth retardation, Recurrent infections, Hypoplasia of the iris... OMIM:223370
Witteveen-Kolk Syndrome
Fatigue, Cataract, Short stature, Eczema, Small for gestational age, Obesity, Intracranial hemorr... OMIM:613406
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Atrial septal defect, Microphthalmia, Failure to thrive, Intrauterine g... OMIM:603467
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Myhre Syndrome
Cataract, Ventricular septal defect, Short stature, Small for gestational age, Pericardial effusi... OMIM:139210
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis ORPHA:158000
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Corneal opacity, Endoca... ORPHA:99776
Holoprosencephaly
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Failure to thrive i... ORPHA:2162
Charcot-Marie-Tooth Disease Type 4C
Trigeminal neuralgia, Failure to thrive, Myalgia, Anisocoria ORPHA:99949
22Q11.2 Deletion Syndrome
Chronic otitis media, Atrial septal defect, Short stature, Acne, Obesity, Truncus arteriosus, Tet... ORPHA:567
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Inhalational Botulism
Fatigue, Mydriasis ORPHA:254504
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricu... ORPHA:508498
Fanconi Anemia
Recurrent urinary tract infections, Cataract, Short stature, Weight loss, Aplasia/Hypoplasia of t... ORPHA:84
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Cockayne Syndrome Type 2
Anophthalmia, Uveitis, Developmental cataract, Conjunctivitis, Intrauterine growth retardation ORPHA:90322
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... OMIM:206900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Microphthalmia, Syndromic 5
Anophthalmia, Short stature, Optic nerve hypoplasia, Cataract, Microcornea, Microphthalmia OMIM:610125
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Growth delay, Chorioretinal coloboma, Peters anomaly, Micro... OMIM:120200
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Small for gestational age, Portal hypertension, Situs in... OMIM:243800
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Multiple Endocrine Neoplasia Type 1
Abdominal pain, Shortened QT interval, Hematemesis, Weight loss, Melena, Hypertension, Impairment... ORPHA:652
Micro Syndrome
Cataract, Short stature, Microcornea, Delayed puberty, Microphthalmia, Intrauterine growth retard... ORPHA:2510
Atelis Syndrome 2
Developmental cataract, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, M... OMIM:620185
Meckel Syndrome 14
Microphthalmia, Mitral regurgitation, Tricuspid regurgitation, Single ventricle OMIM:619879
Knobloch Syndrome 1
Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Iris transillumi... OMIM:267750
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Microphthalmia, Syndromic 2
Anophthalmia, Ventricular septal defect, Dextrocardia, Short stature, Phthisis bulbi, Double outl... OMIM:300166
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Short stature OMIM:612530
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Micropht... OMIM:243605
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Eczema, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Lead Poisoning
Hypertension, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Short stature, Sclerocornea, Cardiomegaly, Postnatal growth ... ORPHA:3472
Microphthalmia, Lenz Type
Cataract, Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:568
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... OMIM:100300
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis, Ventricular septal defect, Short stature OMIM:272950
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Rothmund-Thomson Syndrome, Type 2
Cataract, Small for gestational age, Short stature, Telangiectasia, Microcornea, Microphthalmia, ... OMIM:268400
Stickler Syndrome
Recurrent respiratory infections, Cataract, Short stature, Cachexia, Ectopia lentis, Osteoarthrit... ORPHA:828
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P... ORPHA:51608
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Postnatal growth retardation, Microcornea, Chorioretinal colobom... ORPHA:959
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... ORPHA:42775
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Nephronophthisis 11
Growth delay, Anisocoria OMIM:613550
Cockayne Syndrome
Severe short stature, Cataract, Urinary incontinence, Cachexia, Band keratopathy, Postnatal growt... ORPHA:191
Facial Spasm
Anisocoria OMIM:134300
Rift Valley Fever
Back pain, Skin rash, Hematemesis, Ocular pain, Severe viral infection, Retinal hemorrhage, Uveit... ORPHA:319251
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Fanconi Anemia, Complementation Group E
Small for gestational age, Microphthalmia, Short stature, Abnormal heart morphology OMIM:600901
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:228390
Neurotrophic Keratopathy
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... ORPHA:137596
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Short stature, Hypoplasia of the iris, Opacification of the ... OMIM:251300
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Matthew-Wood Syndrome
Microphthalmia, Failure to thrive, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Ataxia, Posterior cortical cataract, Anterior cortical c... ORPHA:67036
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Alström Syndrome
Urinary incontinence, Otitis media, Short stature, Portal hypertension, Posterior subcapsular cat... ORPHA:64
Fanconi Anemia, Complementation Group A
Small for gestational age, Microphthalmia, Short stature, Abnormal heart morphology OMIM:227650
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Moebius Syndrome
Microphthalmia OMIM:157900
Duane-Radial Ray Syndrome
Cataract, Ventricular septal defect, Optic disc hypoplasia, Atrial septal defect, Microphthalmia,... OMIM:607323
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Revesz Syndrome
Intrauterine growth retardation, Megalocornea, Leukocoria OMIM:268130
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Microphthalmia, Iris coloboma ORPHA:251014
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos OMIM:615085
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou... OMIM:187300
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Short stature, Small for ge... OMIM:612289
Degcags Syndrome
Tachycardia, Recurrent urinary tract infections, Ventricular septal defect, Pneumonia, Small for ... OMIM:619488
Fanconi Anemia, Complementation Group C
Small for gestational age, Ventricular septal defect, Short stature, Microphthalmia, Intrauterine... OMIM:227645
Blau Syndrome
Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido... ORPHA:90340
Parkes Weber Syndrome
Back pain, Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Chest p... ORPHA:90307
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Osteopetrosis, Autosomal Recessive 5
Growth delay, Stillbirth, Short stature, Mydriasis OMIM:259720
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Short stature, Pulmonary arterial hypertension, Atrial septal d... OMIM:620186
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morpholo... ORPHA:286
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Intestinal Botulism
Mydriasis ORPHA:178481
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Chorioretinal dysplasia, Cataract, Panniculitis, Atrial septa... ORPHA:2526
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Fryns Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot ORPHA:2059
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammatio... OMIM:181000
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Pelvis-Shoulder Dysplasia
Short stature, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Microcornea, Neona... ORPHA:2839
Sponastrime Dysplasia
Shoulder pain, Cataract, Rhizomelia, Small for gestational age, Microcoria, Recurrent pneumonia, ... ORPHA:93357
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Momo Syndrome
Short stature, Large for gestational age, Bilateral microphthalmos, Obesity, Chorioretinal coloboma ORPHA:2563
Mosaic Trisomy 1
Microphthalmia, Ventricular septal defect, Opacification of the corneal stroma ORPHA:1692
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Short stature, Phthisis bulbi, Absent anterior... OMIM:259770
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia, Cataract, Sclerocornea OMIM:614230
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular sep... OMIM:612474
Sarcoidosis
Fatigue, Abnormal cardiac ventricular function, Cataract, Maculopapular exanthema, Portal hyperte... ORPHA:797
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Phace Association
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract OMIM:606519
Retinoblastoma
Vitreous hemorrhage, Leukocoria OMIM:180200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Failure to thrive, Corneal opacity, Intrauterine growth retardation ORPHA:364577
Craniotubular Dysplasia, Ikegawa Type
Phthisis bulbi, Ventricular septal defect, Short stature, Mydriasis OMIM:619727
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Growth delay, Esophagitis, Atrial septal defect, Microphthalmia, Truncus arteriosus... ORPHA:2538
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Intrauterine growth retardation OMIM:251230
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Neonatal death, Microphthalmia, Intrauterine growth ret... OMIM:146510
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Joubert Syndrome 2
Microphthalmia, Failure to thrive, Chorioretinal coloboma OMIM:608091
Meckel Syndrome, Type 2
Microphthalmia, Intrauterine growth retardation OMIM:603194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy, Microphthalmia, Failu... OMIM:608670
Basal Cell Nevus Syndrome 1
Cataract, Cardiac fibroma, Cardiac rhabdomyoma, Microphthalmia, Iris coloboma OMIM:109400
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Abdominal pain, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial ... ORPHA:93126
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Abnormal heart morphology OMIM:184705
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Failure to thrive, Corneal opacity OMIM:601812
Monosomy 9Q22.3
Microphthalmia, Cataract, Cardiac fibroma, Large for gestational age ORPHA:77301
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Short stature OMIM:610651
Kenny-Caffey Syndrome, Type 2
Severe short stature, Small for gestational age, Short stature, Developmental cataract, Microphth... OMIM:127000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Growth delay, Chorioretinal coloboma, Microphthalmia, Patent foramen o... OMIM:613884
Fanconi Anemia, Complementation Group D2
Small for gestational age, Microphthalmia, Short stature, Abnormal heart morphology OMIM:227646
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... OMIM:236670
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Severe short stature, Corneal opacity, Eczema, Ke... ORPHA:2273
Charge Syndrome
Anophthalmia, Short stature, Postnatal growth retardation, Abnormal cardiac septum morphology, Ab... ORPHA:138
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Situs inversus totalis, ... ORPHA:564
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Short stature, Peters anomaly, Microphthalmia, Patent foramen ovale, I... OMIM:616975
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... OMIM:263650
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Short stature, Brushfield spots, Lens coloboma, Blue irides, M... OMIM:619539
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Aicardi Syndrome
Cataract, Postnatal growth retardation, Chorioretinal lacunae, Recurrent pneumonia, Microphthalmia OMIM:304050
Frontonasal Dysplasia 2
Microphthalmia, Intrauterine growth retardation OMIM:613451
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Corneal opacity, Cataract, Micro... ORPHA:141099
Cousin Syndrome
Microcornea, Microphthalmia, Disproportionate short stature, Rhizomelia OMIM:260660
Fryns Syndrome
Ventricular septal defect, Large for gestational age, Stillbirth, Opacification of the corneal st... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Charge Syndrome
Anophthalmia, Overriding aorta, Ventricular septal defect, Cataract, Secundum atrial septal defec... OMIM:214800
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3412
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia, Iris coloboma ORPHA:2612
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Short stature OMIM:201180
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Townes-Brocks Syndrome
Failure to thrive, Cataract, Short stature, Abnormal pulmonary valve morphology, Bowel incontinen... ORPHA:857
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Ohdo Syndrome, X-Linked
Microphthalmia, Decreased body weight OMIM:300895
Carney Complex
Cardiac myxoma, Congestive heart failure, Increased body weight, Hypertension, Abdominal obesity ORPHA:1359
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Vasculitis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, P... ORPHA:3261
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Iris coloboma, Cataract ORPHA:2250
Neu-Laxova Syndrome 1
Cataract, Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal de... OMIM:256520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Stillbirth, Rhizomelia OMIM:616300
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular septal defect, ... ORPHA:508488
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Treacher-Collins Syndrome
Microphthalmia, Failure to thrive, Iris coloboma, Cataract ORPHA:861
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Monosomy 13Q14
Cataract, Short stature, Microphthalmia, Iris coloboma, Intrauterine growth retardation ORPHA:1587
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Cataract, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Bowel in... ORPHA:261537
Renpenning Syndrome 1
Cataract, Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect,... OMIM:309500
Mowat-Wilson Syndrome
Cataract, Bicuspid aortic valve, Urinary incontinence, Bowel incontinence, Short stature, Enteroc... ORPHA:2152
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Ectopia lentis, Telangiectasia, Chorioretinal coloboma, Aniridia, Mi... OMIM:305600
Meckel Syndrome, Type 1
Microphthalmia, Abnormal cardiac septum morphology, Iris coloboma, Intrauterine growth retardation OMIM:249000
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Cataract, Severe intrauterine growth retardation ORPHA:3103
Woodhouse-Sakati Syndrome
Growth delay, Abnormal T-wave, Delayed puberty ORPHA:3464
Lowe Oculocerebrorenal Syndrome
Short stature, Postnatal growth retardation, Corneal scarring, Developmental cataract, Microphtha... OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Developmental cataract, Gr... ORPHA:93325
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Eczema, Optic nerve hypoplasia, Bilateral microphthalmos, Severe failure to... ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Antecubital pterygium, Popliteal pterygium, Total anomalous pulmonary venous return, Atrial septa... OMIM:609945
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:2166
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia With Limb Anomalies
Microphthalmia, Failure to thrive, Short stature, True anophthalmia ORPHA:1106
Leprosy
Epistaxis, Uveitis, Iritis, Corneal perforation, Corneal ulceration ORPHA:548
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Aicardi Syndrome
Microphthalmia, Chorioretinal coloboma, Delayed puberty ORPHA:50
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Antiphospholipid Syndrome, Familial
Keratitis, Scleritis, Iritis OMIM:107320
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot, Cataract ORPHA:306542
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Stillbirth, Microphthalmia, In... OMIM:236680
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia, Short stature OMIM:616734
Roberts-Sc Phocomelia Syndrome
Cataract, Ventricular septal defect, Corneal opacity, Postnatal growth retardation, Stillbirth, S... OMIM:268300
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Large for gestational age, Recurrent upper and lower re... ORPHA:672
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Co... ORPHA:95159
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Growth delay, Microcornea, Ciliary body coloboma, Chorioreti... OMIM:309800
Holoprosencephaly 2
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Single ventricle OMIM:157170
Holoprosencephaly 1
Microphthalmia, Short stature, Single ventricle OMIM:236100
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract OMIM:603457
Monosomy 9P
Microphthalmia ORPHA:261112
Fraser Syndrome 1
Anophthalmia, Corneal opacity, Bilateral microphthalmos, Abnormal heart morphology OMIM:219000
Branchiooculofacial Syndrome
Anophthalmia, Cataract, Postnatal growth retardation, Microphthalmia, Iris coloboma, Intrauterine... OMIM:113620
Fraser Syndrome 2
Microphthalmia OMIM:617666
Microphthalmia, Syndromic 6
Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Failure to thrive OMIM:607932
Isolated Arrhinia
Microphthalmia ORPHA:1134
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Craniofacial Microsomia 1
Anophthalmia, Ventricular septal defect, Limbal dermoid, Microphthalmia, Tetralogy of Fallot OMIM:164210

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 Cap2

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 Cap2.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Functional Redundancy of Cyclase-Associated Proteins CAP1 and CAP2 in Differentiating Neurons. Cells (June 2021) Cap2tm1a(EUCOMM)Wtsi PMC8234816
CAP2 is a regulator of actin pointed end dynamics and myofibrillogenesis in cardiac muscle. Communications biology (March 2021) Cap2tm1a(EUCOMM)Wtsi PMC7979805
CAP2 deficiency delays myofibril actin cytoskeleton differentiation and disturbs skeletal muscle architecture and function. Proceedings of the National Academy of Sciences of the United States of America (April 2019) Cap2tm1a(EUCOMM)Wtsi PMC6486752
Neuronal Actin Dynamics, Spine Density and Neuronal Dendritic Complexity Are Regulated by CAP2. Frontiers in cellular neuroscience (July 2016) Cap2tm1e(EUCOMM)Wtsi PMC4960234
Deficiency of cyclase-associated protein 2 promotes arrhythmias associated with connexin43 maldistribution and fibrosis. Archives of medical science : AMS (February 2016) Cap2tm1e(EUCOMM)Wtsi PMC4754362
CAP2 in cardiac conduction, sudden cardiac death and eye development. Scientific reports (November 2015) Cap2tm1c(EUCOMM)Wtsi Cap2tm1a(EUCOMM)Wtsi PMC4663486
CAP2 is a regulator of the actin cytoskeleton and its absence changes infiltration of inflammatory cells and contraction of wounds. European journal of cell biology (November 2014) Cap2tm1e(EUCOMM)Wtsi 25464902
Ablation of cyclase-associated protein 2 (CAP2) leads to cardiomyopathy. Cellular and molecular life sciences : CMLS (September 2012) Cap2tm1e(EUCOMM)Wtsi 22945801

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
Cap2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cap2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cap2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter