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Gene: Lmna MGI:96794

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Gene Summary

Name:
lamin A
Synonyms:
lamin A/C,  Dhe

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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
preweaning lethality, complete penetrance Lmnatm1b(EUCOMM)Wtsi HOM   Early adult 0.00
cornea ulcer Lmnatm1b(EUCOMM)Wtsi HET   Early adult 1.73×10-05
short tibia Lmnatm1b(EUCOMM)Wtsi HET   Early adult 2.33×10-05
improved glucose tolerance Lmnatm1b(EUCOMM)Wtsi HET   Early adult 2.85×10-06

Download data as:  TSV  XLS

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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.

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DSS Histology

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24 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Anti-nuclear antibody assay

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6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Lmna 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 Lmna by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Muscle w... OMIM:616516
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... ORPHA:98855
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Generalized amyotrophy, Congenital muscular dyst... OMIM:613205
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Convex nasal ridge, Narrow nasal tip, Delayed eruption of teeth, S... ORPHA:740
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Prema... ORPHA:280365
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia ORPHA:157973
Mandibuloacral Dysplasia With Type A Lipodystrophy
Delayed cranial suture closure, Convex nasal ridge, Flexion contracture, Acroosteolysis of distal... OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lack of skin elasticity, Alopecia, Abnormal eyebrow morphology, High palate, Acroosteolysis of di... ORPHA:90153
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Decreased body weight, Premature graying of hair... ORPHA:79474
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Abnormality of skeletal muscle fiber size, Insulin resistance, Congestive heart failu... ORPHA:2348
Hutchinson-Gilford Progeria Syndrome
Alopecia, Micrognathia, Congestive heart failure, Angina pectoris, Osteolysis, Generalized osteop... OMIM:176670
Charcot-Marie-Tooth Disease Type 2B1
Toe extensor amyotrophy, Peroneal muscle atrophy, Decreased number of peripheral myelinated nerve... ORPHA:98856
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Congestive heart failure, Hypertension, Abnorma... ORPHA:363618
Lipodystrophy, Familial Partial, Type 2
Atherosclerosis, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsutism, Skeletal musc... OMIM:151660
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Ar... ORPHA:1662
Restrictive Dermopathy 2
Convex nasal ridge, Hypoplastic facial bones, Proptosis, Microretrognathia OMIM:619793

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Generalized mu... ORPHA:98912
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... OMIM:611880
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Danon Disease
Proximal muscle weakness, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-Wh... OMIM:300257
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Desminopathy
Sudden cardiac death, Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakn... ORPHA:98909
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... ORPHA:399103
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Fascicu... OMIM:608810
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Proximal muscle weakness, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular d... ORPHA:34515
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Distal upper limb muscl... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... OMIM:604286
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hyp... OMIM:255160
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Adult-Onset Nemaline Myopathy
Poor fine motor coordination, Increased variability in muscle fiber diameter, Flexion contracture... ORPHA:171442
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Myopathy, Myofibrillar, 6
Respiratory insufficiency, Restrictive cardiomyopathy, Proximal muscle weakness, Hypertrophic car... OMIM:612954
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... ORPHA:70482
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy, Arrhythmia, Car... OMIM:300376
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Joint stiffness, Onychogryposis, Abnormal hair morphology, Hyperkera... OMIM:617756
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Distal upper limb muscle weakness, Somatic sensory dysfunction, Gait imbalance, Inability to walk... ORPHA:63273
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ... OMIM:611615
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Late-onset proximal muscle weakn... OMIM:601419
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Congenital Myopathy 2A, Typical, Autosomal Dominant
Respiratory insufficiency, Generalized muscle weakness, Neck flexor weakness, Proximal muscle wea... OMIM:161800
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertr... ORPHA:206559
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Dilated ca... OMIM:612937
Distal Myotilinopathy
Loss of ability to walk in first decade, Multiple joint contractures, Progressive proximal muscle... ORPHA:98911
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... ORPHA:2722
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Gowe... OMIM:253700
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Premature graying of hair, Dysdiadochokinesis, Dilated cardiomyopathy... OMIM:619903
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Type 1 fibers relatively smaller than type 2 fibers, Dilate... OMIM:300580
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Elevated jugula... ORPHA:563
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Generalized muscle weakness, Proximal muscle weakness, Inability to walk, Calf muscle hypertrophy... ORPHA:206546
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... ORPHA:99106
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Childhood-Onset Nemaline Myopathy
Poor fine motor coordination, Flexion contracture, Facial diplegia, Nemaline bodies, Difficulty w... ORPHA:171439
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Muscle we... OMIM:602541
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... OMIM:609452
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Duchenne Muscular Dystrophy
Respiratory insufficiency, Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy... ORPHA:98896
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Increased variability in muscle fiber diameter, Proximal muscle weakne... OMIM:612999
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos... OMIM:616827
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... OMIM:608807
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... ORPHA:75249
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Parkinsonism, Gait disturbance, Progressive external ophthalmoplegia, E... OMIM:609286
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Hypermelanotic macu... ORPHA:69125
Muscular Dystrophy, Duchenne Type
Flexion contracture, Calf muscle hypertrophy, Gowers sign, Abnormal EKG, Arrhythmia, Obstructive ... OMIM:310200
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmopla... ORPHA:79395
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... OMIM:261740
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Myopathy And Diabetes Mellitus
Skeletal myopathy, Tip-toe gait, Weakness of orbicularis oculi muscle, Distal lower limb amyotrop... ORPHA:2596
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial calcification, Arterial occlusion, Decreased serum creatinine, Arterial tortuosity, Coro... ORPHA:289601
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o... OMIM:601812
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Di... OMIM:300718
Atrial Standstill 1
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... OMIM:108770
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Respiratory insufficiency, Limb-girdle muscle weakness, Proximal muscle weakness, Muscular dystro... OMIM:615352
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the s... ORPHA:79397
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Hyperglycemia, Small for gestational age, A... ORPHA:99886
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Difficulty walking, Cardiom... OMIM:609308
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Proximal muscle weakness, Muscle fiber atrophy, External ophthalmoplegia, Paresth... ORPHA:254886
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Hypohidrosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Natal tooth... OMIM:617337
Gne Myopathy
Hypothyroidism, Muscle fiber inclusion bodies, Shoulder girdle muscle atrophy, Steppage gait, Sca... ORPHA:602
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism, Generalized hyperpigmentation ORPHA:2297
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Dilated cardiomyopathy ORPHA:34587
Olmsted Syndrome 1
Hyperhidrosis, Flexion contracture, Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dys... OMIM:614594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C... OMIM:254110
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Ventricular hypertrophy, Proximal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, G... OMIM:601287
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Periarticular calcification, Abdominal aortic calcification, Conges... OMIM:208000
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... OMIM:600858
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Proximal muscle weakness, Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Myopa... ORPHA:369840
Odontoonychodermal Dysplasia
Orthokeratosis, Widely spaced primary teeth, Palmoplantar hyperkeratosis, Thin nail, Nail dysplas... OMIM:257980
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Muscle w... OMIM:616516
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ... OMIM:301075
Calcification Of Joints And Arteries
Periarticular calcification, Intermittent claudication, Femoral arterial calcification, Tibial ar... OMIM:211800
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Falls, Type 1 muscle fiber predominance, EMG: myopath... OMIM:608358
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Flexion contracture, Ophthalmoplegia, Short stature, Abnormal mitochondria in muscle ... OMIM:252011
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Tip-toe gait, Distal lower limb amyotrophy, Spastic gait, Rigidity, Gait disturbanc... ORPHA:100984
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Downslanted palpebral fissures, Macrotia, Mandibular prognathia, High palate... ORPHA:3079
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Clumsiness, EMG: myo... ORPHA:603
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Minimal subcutaneous fat, Micrognathia, Camptodactyly, Dislocated ... OMIM:182212
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Convex nasal ridge, High palate, Broad secondary alveolar ri... ORPHA:3369
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Truncal ataxia, Myopathy, Restrictive ventilatory defect, Difficu... ORPHA:369847
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Abnormal pyramid... ORPHA:320360
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Hyperlord... ORPHA:267
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Diabetes mellitus, Astigmatism, Corneal perforation, Rec... ORPHA:137596
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Muscle weakness, ... OMIM:617336
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98853
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Crouzon Syndrome
Conjunctivitis, Sagittal craniosynostosis, Brachycephaly, Conductive hearing impairment, Mandibul... OMIM:123500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Proximal muscle weakness, Muscle fiber atrophy, Truncal ataxia, Progressive external ophthalmople... OMIM:258450
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Somatic sensory dysfunction, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Parana Hard Skin Syndrome
Thickened skin, Generalized hyperpigmentation, Restricted chest movement, Hyperkeratosis, General... ORPHA:2812
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Congestive heart failure, Noncompaction cardiomy... OMIM:610198
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Gowers sign, Muscular dystrophy, Shoulder girdle mus... OMIM:603511
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Congenital Myopathy 4A, Autosomal Dominant
Respiratory insufficiency, Generalized muscle weakness, Proximal muscle weakness, Centrally nucle... OMIM:255310
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Gait disturbance, Hypertension, Congestive heart failure, Dilated cardiomyopath... ORPHA:1349
Infantile Refsum Disease
Spasticity, Short stature, Facial palsy, Ataxia, Progressive muscle weakness, Failure to thrive, ... ORPHA:772
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Hypertension, Ascending aortic dissection, Coarctation of aor... ORPHA:402075
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Recurrent aspiration pneumonia, Progressive distal muscle... ORPHA:98897
Hidrotic Ectodermal Dysplasia
Thickened skin, Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic... ORPHA:189
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Generalized muscle ... ORPHA:254361
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... ORPHA:1329
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Convex nasal ridge, High palate, Wide nasal bridge, Epicanthus, Small ... OMIM:314320
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Pericardial effusion, Exercise-induced rhabdomyolysis, Hepatomegaly, Pn... ORPHA:26793
Aortic Valve Disease 2
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... OMIM:614823
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Alopecia, Upslanted palpebral fissure, Macrotia, Prominent nose, A... ORPHA:1005
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... ORPHA:98855
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Achilles tendon contracture, Progressive distal muscle weakness, Muscle... OMIM:609200
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... OMIM:300695
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Wide nasal bridge, Epicanthus, Sparse hair, Posteriorly rotated ears, Short palpeb... OMIM:613174
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Muenke Syndrome
Brachycephaly, Dental malocclusion, Downslanted palpebral fissures, Sensorineural hearing impairm... OMIM:602849
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Abnormality of body weight, Delayed puberty, Hypoglycemia, ... ORPHA:314811
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Chondrocalcinosis Due To Apatite Crystal Deposition
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... OMIM:118610
Distal Anoctaminopathy
Peroneal muscle atrophy, Rhabdomyolysis, Progressive proximal muscle weakness, Progressive muscle... ORPHA:399096
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis, Tip-toe gait, Muscular dystrophy, Achilles tendon contracture,... ORPHA:62
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Axial muscle weakness,... ORPHA:324604
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiofaciocutaneous Syndrome
Optic atrophy, EEG abnormality, Epicanthus, Biparietal narrowing, Generalized hyperpigmentation, ... ORPHA:1340
Chromosome 6Q11-Q14 Deletion Syndrome
Upslanted palpebral fissure, High palate, Long philtrum, Primary microcephaly, Epicanthus, Microg... OMIM:613544
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Palpitations, Cardiomyocyte hypertrophy, Decreased muscle glycogen conte... ORPHA:263297
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Proximal muscle weakness, Tip-toe gait, Nocturnal hypoventilation, Calf muscle hypertrophy, Conge... OMIM:607155
Charcot-Marie-Tooth Disease Type 1A
Acute demyelinating polyneuropathy, Gait imbalance, Calf muscle hypertrophy, Decreased motor nerv... ORPHA:101081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Inability to walk, Calf muscle hypertrophy, Muscular dystrop... OMIM:613155
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Diffuse palmoplanta... OMIM:617294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Generalized muscle weakness, Flexion contracture, Proximal muscle weak... OMIM:613156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Reduced left ventricular ejection fraction, Hepatocellular necrosis, Exerci... OMIM:201475
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Menke-Hennekam Syndrome 1
Flexion contracture, Everted upper lip vermilion, Epicanthus, Micrognathia, Prominent inferior cr... OMIM:618332
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... ORPHA:79399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... OMIM:616812
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Respiratory insufficiency, Progressive external ophthalmoplegia, Babinski sign, Difficulty walkin... OMIM:616479
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Nemaline Myopathy 2
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Inability to walk, Nemalin... OMIM:256030
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal muscle weakness, Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy... OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Limb-girdle muscle weakness, Muscular dystrophy, Difficulty walking, Ankle flexion contracture, U... OMIM:613818
Alpha-Mannosidosis
Dental malocclusion, Splenomegaly, Macrotia, Narrow palate, Mandibular prognathia, Widely spaced ... ORPHA:61
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Frontoocular Syndrome
Short palpebral fissure, High palate, Epicanthus, Coronal craniosynostosis, Micrognathia, Blephar... OMIM:605321
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Generalized amyotrophy, Congenital muscular dyst... OMIM:613205
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Autosomal Recessive Centronuclear Myopathy
Respiratory insufficiency, Hip contracture, Centrally nucleated skeletal muscle fibers, Generaliz... ORPHA:169186
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Marshall-Smith Syndrome
Irregular dentition, Bilateral conductive hearing impairment, Decreased body weight, Melanocytic ... OMIM:602535
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Epicanthus, Micrognathia, Absent tr... ORPHA:79113
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:266
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Rhabdomyolysis, Short stature, Dilated cardiomyopathy, Muscle weakness, Hypoglyce... OMIM:618120
Myopathy, Distal, 3
Late-onset proximal muscle weakness, Joint contracture of the hand, Muscular dystrophy, Clumsines... OMIM:610099
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Generalized muscle weakness, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis,... OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Young Syndrome
Azoospermia OMIM:279000
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Lower limb muscle weakness, Muscul... OMIM:254130
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Generalized muscle weakness, Restrictive cardiomyopathy, Type 1 fibers relativ... OMIM:619424
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Dowling-Degos Disease 2
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation OMIM:615327
Preaxial Hallucal Polydactyly
Diabetes mellitus, Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Congenital Myopathy 3 With Rigid Spine
Flexion contracture, Decreased body weight, Type 1 and type 2 muscle fiber minicore regions, Faci... OMIM:602771
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Proximal muscle weakness, Skeletal muscle hypertrophy OMIM:613158
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Peeling Skin Syndrome 4
Ichthyosis, Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy OMIM:607936
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Acrocraniofacial Dysostosis
Wide nose, Oxycephaly, Downslanted palpebral fissures, Conductive hearing impairment, Sensorineur... OMIM:201050
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... OMIM:610687
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Mand... OMIM:614669
Multiminicore Myopathy
Respiratory insufficiency, External ophthalmoplegia, Short stature, Congenital muscular dystrophy... ORPHA:598
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Spasticity, Respiratory failure, Abnormality of extrapyramidal motor f... OMIM:614299
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... ORPHA:2198
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Absence Of The Pulmonary Artery
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... ORPHA:980
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Triphalangeal thumb, Alopecia, Finger syndactyly, Short thumb, Abnormali... ORPHA:2251
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Acrocraniofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Abnormality ... ORPHA:949
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Epicanthus, Micrognathia, Camptodactyly, Glossoptosis, Hearing impairment, Pos... OMIM:613604
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Atrophic scars, Palmoplantar hy... ORPHA:89838
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia ORPHA:324588
Roussy-Lévy Syndrome
Gait ataxia, Acute demyelinating polyneuropathy, Lower limb muscle weakness, Decreased motor nerv... ORPHA:3115
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, EEG abnormality, Epicanthus, Synophrys, Cachexia, Biparietal narrowing, ... ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Wide nasal bridge, Epicanthus, Micrognathia, Prominent nasal tip, Thick eyebrow, A... OMIM:615834
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:173200
Acrokeratoelastoidosis Of Costa
Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergr... ORPHA:38
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... OMIM:609285
Myopathy, Centronuclear, 5
Respiratory insufficiency, Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal ... OMIM:615959
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Generalized amyotrophy, Progressive proximal muscle weakness, Shoulder ... OMIM:167320
Aymé-Gripp Syndrome
Delayed cranial suture closure, Brachycephaly, Plagiocephaly, EEG abnormality, Camptodactyly, Per... ORPHA:1272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ophthalmoplegia, Ataxia, Hypertrophic cardiomyopathy, Lethargy, Bradykinesia OMIM:618683
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... ORPHA:45452
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Primary microcephaly, Epicanthus, Synophrys, Micrognathia, Dorsocervical f... ORPHA:391408
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, Brachycephaly, High palate, Furrowed tongue, Micrognathia, Hypotel... ORPHA:1387
Ataxia, Deafness, And Cardiomyopathy
Ataxia, Cardiomyopathy OMIM:208750
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis, Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Hyperke... OMIM:615023
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Fetal Alcohol Syndrome
Non-midline cleft lip, Epicanthus, Micrognathia, Microdontia, Biparietal narrowing, Short nose, T... ORPHA:1915