Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
cornea ulcer Lmnatm1b(EUCOMM)Wtsi HET   Early adult 3.59×10-06
abnormal cornea morphology Lmnatm1b(EUCOMM)Wtsi HET   Early adult 6.31×10-05
short tibia Lmnatm1b(EUCOMM)Wtsi HET   Early adult 2.33×10-05
abnormal optic disk morphology Lmnatm1b(EUCOMM)Wtsi HET   Early adult 6.38×10-05
improved glucose tolerance Lmnatm1b(EUCOMM)Wtsi HET Early adult 2.85×10-06
preweaning lethality, complete penetrance Lmnatm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Exertional dyspnea, Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dy... OMIM:181350
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Generalize... OMIM:616516
Muscular Dystrophy, Congenital, Lmna-Related
Upper limb muscle weakness, Distal muscle weakness, Respiratory insufficiency due to muscle weakn... OMIM:613205
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Respiratory insufficiency due to muscle weakness, Limb-girdle muscular dyst... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98855
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Decreased number of... OMIM:605588
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper... OMIM:151660
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Hypermelanotic macule,... ORPHA:740
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Lipoatrophy, Precocious atherosclerosis, Splenomegaly, Proximal upper ... ORPHA:280365
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Skeletal muscle atrophy, Flexion contracture, Arrhythmia, Myopathy ORPHA:157973
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit... OMIM:212112
Mandibuloacral Dysplasia With Type A Lipodystrophy
Large fontanelles, Breast aplasia, Hyperpigmentation of the skin, Absent eyelashes, Osteolytic de... ORPHA:90153
Atypical Werner Syndrome
Premature graying of hair, Lipoatrophy, Delayed puberty, Reduced bone mineral density, Calf muscl... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Narrow nasal ridge, Proptosis, Hyperlipidemia, Joint stiffness, Loss of subcutan... OMIM:248370
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Growth delay, Generalized osteoporosis, Absence of sub... OMIM:176670
Charcot-Marie-Tooth Disease Type 2B1
Distal lower limb muscle weakness, Steppage gait, Inability to walk, Distal upper limb amyotrophy... ORPHA:98856
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Ventricular hypertrophy, Hypertension, Mitral valve calcific... ORPHA:363618
Restrictive Dermopathy
Scaling skin, Sparse or absent eyelashes, Temporomandibular joint ankylosis, Decreased skull ossi... 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
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Ankle weakness, Generalized muscle weakness... ORPHA:98912
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Exertional dyspnea, Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dy... OMIM:181350
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, Distal muscle weakness, Severely reduced left ventric... OMIM:300257
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Distal Nebulin Myopathy
Neck flexor weakness, Ankle flexion contracture, Exertional dyspnea, Progressive proximal muscle ... ORPHA:399103
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Difficulty walking, Progressive musc... ORPHA:98909
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
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
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak... OMIM:608810
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Waddling gait, Frequen... ORPHA:34515
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Cardio... OMIM:608099
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Myopathy, Distal, 1
Left atrial enlargement, Tip-toe gait, Distal lower limb muscle weakness, Neck muscle weakness, R... OMIM:160500
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Talipes cavus equinovarus, Weakness of orbicul... ORPHA:59135
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Exertional dyspnea, Calf muscle hypertrophy, Sinus tachycardia, Limb-girdle muscle weakness, Cent... OMIM:255160
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Hip flexor weakness, Distal lower limb muscle weakness, Difficulty walking, Distal upper limb mus... ORPHA:63273
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscle weakness, Arrhythmia, A... OMIM:300376
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Abnormality of the dentition, Joint stiffness, Palmopla... OMIM:617756
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Difficulty walking, Neck muscle weakness, Muscle fiber inclu... ORPHA:399058
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... OMIM:611615
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R... OMIM:612526
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Steppage gait, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopa... OMIM:600334
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Adult-Onset Nemaline Myopathy
Bradykinesia, Type 1 muscle fiber predominance, Difficulty walking, Upper limb muscle weakness, N... ORPHA:171442
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Difficulty walking, Inability to walk, Fatigable weakness ... ORPHA:206559
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Waddling gait, Increased variability in muscle fiber diameter, Unst... OMIM:612937
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Distal Myotilinopathy
Difficulty walking, Distal amyotrophy, Loss of ability to walk in first decade, Cardiomyopathy, E... ORPHA:98911
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Dpm3-Cdg
Muscular dystrophy, Babinski sign, Calf muscle hypertrophy, Rimmed vacuoles, Muscle weakness, Dil... ORPHA:263494
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Microdontia, Tooth agenesis, Abnormal dental morphology, Sparse body hair, Spa... ORPHA:2722
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Deleted in azoospermia
Azoospermia OMIM:400003
Myopathy, Myofibrillar, 6
Tip-toe gait, Muscular dystrophy, Distal sensory impairment, Generalized muscle weakness, Diaphra... OMIM:612954
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Difficulty walking, Respiratory distress, Gowers sign, Calf muscle hypertroph... ORPHA:86812
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Frontalis muscle weakness, Facial palsy, Decreased body weight, Short statu... OMIM:300580
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy, Fiber type grouping... OMIM:619903
Congenital Myopathy 2A, Typical, Autosomal Dominant
Hypertonia, Late-onset distal muscle weakness, Generalized muscle weakness, Bulbar palsy, Facial ... OMIM:161800
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Hepatomegaly, Recurrent respiratory infections, Atrial ... ORPHA:75249
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Tetraparesis, Calf muscle hypertrophy, Reduced systolic function, Skeletal mu... OMIM:616827
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph... OMIM:609452
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Nail dystrophy, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Congenital... ORPHA:79395
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Peripheral edema, Hepatomegaly, Prolonged QT interval, ... ORPHA:57777
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Inability to walk, Generalized muscle weakness, Calf muscle hypertrophy... ORPHA:206546
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Distal muscle weakness, Increas... OMIM:608807
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive muscle weakness, Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathi... OMIM:609286
Peripartum Cardiomyopathy
Left atrial enlargement, Exertional dyspnea, Hypertension, Sinus tachycardia, Heart murmur, Left ... ORPHA:563
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Muscle Filaminopathy
Muscle fiber splitting, Neck flexor weakness, Abnormality of masticatory muscle, Weakness of faci... ORPHA:171445
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Carious teeth... ORPHA:69125
Childhood-Onset Nemaline Myopathy
Facial diplegia, Cardiomyopathy, Respiratory insufficiency due to muscle weakness, Clumsiness, My... ORPHA:171439
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Muscle fi... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystr... OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Myopathy And Diabetes Mellitus
Tip-toe gait, Babinski sign, Progressive cerebellar ataxia, Inability to walk, Respiratory distre... ORPHA:2596
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Lower limb spasticity, Supr... ORPHA:320360
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wav... OMIM:261740
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial tortuosity, Abnormal cardiovascular system physiology, Dec... ORPHA:289601
Cole Disease
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Abnormality of the dentition, ... OMIM:615522
Olmsted Syndrome 1
Nail dysplasia, Parakeratosis, Nail dystrophy, Hyperparakeratosis, Periorificial hyperkeratosis, ... OMIM:614594
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Increased LDL c... OMIM:615703
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Oral mucosal blisters, Hypomelanotic macul... ORPHA:79397
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Sensorineural hearing impairment, Proptosis, Shallow orbits, Aplasia o... OMIM:601812
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Scapular winging, Increased variability in muscle fiber diame... OMIM:612999
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Muscular dystrophy, Congestive heart failure, Hypoventilation, Calf muscle pseudohy... OMIM:310200
Vohwinkel Syndrome, Variant Form
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... OMIM:604117
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Duchenne Muscular Dystrophy
Progressive muscle weakness, Calf muscle hypertrophy, Waddling gait, Cardiomyopathy, Flexion cont... ORPHA:98896
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, External ophthalmoplegia, Distal sensory impairment, Ragged-red muscle fibers, Park... ORPHA:254886
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Facial palsy, EMG: myopathic abno... OMIM:254110
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis, Generalized hirsutism ORPHA:2297
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Gait disturbance, Hypertrophic cardiomyopathy ORPHA:34587
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Periarticular calcification, Hypertension, Re... OMIM:208000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Difficulty walking, Gowers sign, Calf muscle hypertrophy, Ventricular hypertr... OMIM:601287
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Frequent falls, Increased variability in muscle fiber diameter, Respiratory insu... OMIM:300718
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Congestive heart failu... ORPHA:330001
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Trichorrhexis nodosa, Nail dystrophy, Short philtrum, Scarring alopecia of scalp, Sparse lateral ... OMIM:617337
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Difficulty walking, Falls, Calf m... OMIM:608358
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Generalized muscle weakness, Bradycardia, Nemaline bodies, Increased variabili... OMIM:620265
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Gne Myopathy
Hip flexor weakness, Steppage gait, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed ... ORPHA:602
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Generalize... OMIM:616516
Calcification Of Joints And Arteries
Iliac arterial calcification, Femoral arterial calcification, Intervertebral disk calcification, ... OMIM:211800
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card... OMIM:301075
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Odontoonychodermal Dysplasia
Nail dysplasia, Ridged nail, Abnormality of primary teeth, Hyperhidrosis, Hypergranulosis, Fine h... OMIM:257980
Tibial Muscular Dystrophy
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... ORPHA:609
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Tip-toe gait, Distal lower limb muscle weakness, Bradykinesia, Babinski sign, Lower... ORPHA:100984
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Ragged-red muscle fibers, Truncal ataxia, Spasticity, Myoclonus, Abnormal mitochon... OMIM:252011
Classic Multiminicore Myopathy
Muscular dystrophy, Congestive heart failure, Poor head control, Nocturnal hypoventilation, Weakn... ORPHA:324604
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Muscular Dystrophy, Congenital, Lmna-Related
Upper limb muscle weakness, Distal muscle weakness, Respiratory insufficiency due to muscle weakn... OMIM:613205
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w... OMIM:615352
Intellectual Disability, Buenos-Aires Type
Reduced bone mineral density, Abnormal calvaria morphology, Hyperconvex thumb nails, Blepharophim... ORPHA:3079
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Abnormal pinna morphology, Proptosis, Brachyturricephaly, Shallow orbits,... OMIM:182212
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Broad secondary alveolar ridge, Low-set, posteriorly rotated ears, Hypote... ORPHA:3369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Spinal muscular atrophy, Muscle fiber ne... OMIM:271150
Coronary Arterial Fistula
Exertional dyspnea, Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aort... ORPHA:2041
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Loss of gluteal ... OMIM:604367
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Spinal rigidity,... ORPHA:267
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Crouzon Syndrome
Optic atrophy, Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Dental crowding... OMIM:123500
Atrial Septal Defect, Sinus Venosus Type
Exertional dyspnea, Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmi... ORPHA:99105
Finnish Upper Limb-Onset Distal Myopathy
Steppage gait, Difficulty walking, Distal sensory impairment, Clumsiness, Amyotrophy of ankle mus... ORPHA:399086
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Dyspnea, Hypertrophic cardiomyo... ORPHA:1349
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Parana Hard Skin Syndrome
Hyperkeratosis, Restricted chest movement, Thickened skin, Generalized hirsutism, Generalized hyp... ORPHA:2812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Muscular dystrophy, Nocturnal hypoventilation, Difficulty walking, Calf muscle hype... OMIM:607155
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Noncompaction card... OMIM:610198
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Gowers sign, Rimmed vacuoles, Facial pa... OMIM:603511
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic valve calcification, Hypertension, Aortic arch aneurysm, Aortic valv... ORPHA:402075
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Hyperkinetic movements, Truncal ataxia, Chorea, Progressive proximal muscle w... ORPHA:369847
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Muenke Syndrome
Brachycephaly, Plagiocephaly, Recurrent otitis media, Macrocephaly, Sensorineural hearing impairm... OMIM:602849
Infantile Refsum Disease
Hepatomegaly, Progressive muscle weakness, Spasticity, Facial palsy, Cardiomyopathy, Short statur... ORPHA:772
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Respiratory insufficiency due to muscle weakness, Limb-girdle muscular dyst... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Respiratory insufficiency due to muscle weakness, Limb-girdle muscular dyst... ORPHA:98853
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse axillary hair, Spar... ORPHA:189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Cardiomyopathy, Impaired distal vibration sensation, Gait ataxia, Distal m... OMIM:258450
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Ichthyosis, Annular Epidermolytic, 1
Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, Congenital bul... OMIM:607602
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Wadd... OMIM:617760
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Steppage gait, Progressive muscle weakness, Generalized muscle weakness, Lower limb... OMIM:620285
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Aortic tortuosity, Pulmonic st... OMIM:614823
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Hypotelorism, Inguinal hernia, Broad alveolar ridges, Low-set ears, ... OMIM:314320
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abnormal dental e... ORPHA:1005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Congenital Myopathy 24
Gowers sign, Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, Waddling gait, Musc... OMIM:617336
Chromosome 5P13 Duplication Syndrome
Turricephaly, Proptosis, Low posterior hairline, Sparse hair, Craniosynostosis, Short philtrum, F... OMIM:613174
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Scapuloperoneal Myopathy, X-Linked Dominant
Steppage gait, Right bundle branch block, Scapular winging, Waddling gait, Scapuloperoneal myopat... OMIM:300695
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free... ORPHA:26793
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Growth delay, Short stature, ... ORPHA:314811
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98855
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Large fontanelles, Short nose, Gingival fibromatosis, Anteverted nares, Gingival ov... ORPHA:1832
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Tip-toe gait, Muscular dystrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Scapular winging,... ORPHA:62
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,... ORPHA:178464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Hypotelorism, Inguinal hernia, High palate, Low-set ears, Upslanted palpebral fissure... OMIM:613544
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Difficulty walking, P... ORPHA:399096
Cardiofaciocutaneous Syndrome
Multiple lentigines, Sparse or absent eyelashes, Redundant skin, Low posterior hairline, Sparse h... ORPHA:1340
Alpha-Mannosidosis
Chronic otitis media, Narrow palate, Widely spaced teeth, Macrocephaly, Craniofacial hyperostosis... ORPHA:61
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... OMIM:616812
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydroc... OMIM:614662
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dystrophic to... OMIM:617294
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Congestive heart failure, Neck muscle weakness, Limb hypertonia, Generaliz... OMIM:606703
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Nail dystrophy, Hypermelanotic macule, Oral mucosal blisters, Hyperkeratosis, Mixed hypo- and hyp... ORPHA:79399
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Hypoglycosylation of alpha-dys... OMIM:613818
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Reduced maximal inspiratory pressure, Inability to walk, Facial hypotonia, A... ORPHA:266
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Short ear, Prominent inferior crus of antihelix, Sparse hair, Umbili... OMIM:618332
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Neck muscle weakness, Proximal amyotrophy, Pr... OMIM:612998
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Progressive proximal muscle weakness, Respiratory insufficienc... ORPHA:98897
Myopathy, Distal, 3
Muscular dystrophy, Steppage gait, Late-onset proximal muscle weakness, Distal amyotrophy, Rimmed... OMIM:610099
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Congenital Myopathy 4A, Autosomal Dominant
Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Decreased number of... OMIM:605588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Fle... OMIM:613155
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Gait imbalance, Hypoglycemia, Short stature, Rhabdomyolysis, Muscle we... OMIM:618120
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Frontoocular Syndrome
Short palpebral fissure, Hypotelorism, Narrow philtrum, Low-set ears, High palate, Narrow mouth, ... OMIM:605321
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Gowers sign, Facial palsy, Waddling gait, Muscle weakness, Dilated cardiomyop... OMIM:602541
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Decreased sensory nerve conduction velocity, Gait imbalance, Demyelinating periph... ORPHA:101081
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Prominent occiput, Highly arched eyebrow, Optic nerve hypopl... OMIM:602535
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Glossoptosis, Anteverted nares, Camptodactyly, Hearing impairment, Frontal bossing, Downslanted p... OMIM:613604
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Nonketotic... OMIM:201475
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Gait disturbance, Increased variability in muscle fiber... OMIM:618129
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotro... OMIM:254130
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block, Proximal muscle weakness OMIM:613158
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Triphalangeal thumb, Finger syndactyly, Everted lower lip vermilion, Onychogrypos... ORPHA:2251
Peeling Skin Syndrome 4
Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots ORPHA:1336
Nemaline Myopathy 7
Kyphoscoliosis, Weakness of facial musculature, Waddling gait, Nemaline bodies, Limb muscle weakn... OMIM:610687
Congenital Myopathy 23
Kyphoscoliosis, Difficulty walking, Facial diplegia, Scapular winging, Waddling gait, Nemaline bo... OMIM:609285
Auriculocondylar Syndrome 2A
Short mandibular rami, Macrocephaly, Stenosis of the external auditory canal, Dental crowding, Ma... OMIM:614669
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Erythrokeratodermia Variabilis Et Progressiva 3
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis OMIM:617525
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Abnormal heart valve morphology, Gowers sign, Facial diplegia, Scapu... ORPHA:169186
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Cachexia, Microcephaly, Wide mouth, Hypogonadism, Joint hypermobilit... ORPHA:85293
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Poor head control, Nocturnal hypoventilation, Type 1 and type 2 muscle fiber ... OMIM:602771
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia ORPHA:324588
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Macrocephaly/Autism Syndrome
Short nose, Coarse hair, Recurrent otitis media, Postnatal macrocephaly, Large for gestational ag... OMIM:605309
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Generalized muscle weakness, Restrictive cardiomyopathy, F... OMIM:619424
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Hyperkeratosis, Dystrophic toenail, Atrophic scars, H... ORPHA:89838
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Proptosis, Microcephaly, Wide mouth, Umbilical hernia, Short philtrum, Ing... OMIM:615834
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Osteopetrosis, Macrocephaly, Increased bone mineral density, Gener... OMIM:617306
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Difficulty walking, Broad-based gait, Ragged-red muscle fibers, Positive Romberg s... OMIM:616479
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Insulin resistan... ORPHA:79085
Pityriasis Rubra Pilaris