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

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.

DSS Histology

Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A 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
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Muscular dystrophy, Muscle weakness, Hypertriglyceridemia, Gait disturbance, Elbow fl... OMIM:616516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Onion bulb formation, Steppage gait, Decreased number of peripheral my... OMIM:605588
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Muscular Dystrophy, Congenital, Lmna-Related
Flexion contracture, Congenital muscular dystrophy, Generalized amyotrophy, Neck muscle weakness,... OMIM:613205
Hutchinson-Gilford Progeria Syndrome
Patchy alopecia, Shallow orbits, High-frequency sensorineural hearing impairment, Low-frequency s... ORPHA:740
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Muscle hypertrophy of the lower extremities, Micrognathia, Decreased ad... ORPHA:280365
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis, High palate, Wormian bones, Flexion contracture, Hyperlipidemia, Acroosteolysis of dis... ORPHA:90153
Mandibuloacral Dysplasia With Type A Lipodystrophy
Micrognathia, Acroosteolysis of distal phalanges (feet), High palate, Flexion contracture, Hyperl... OMIM:248370
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Generalized hirsutism, Insulin resistance, Congesti... ORPHA:2348
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Atypical Werner Syndrome
Glycosuria, Sclerosis of hand bone, Aplasia/Hypoplasia of the eyebrow, Osteoporosis, Micrognathia... ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Congestive heart failure, Myocardial infarction, Growth delay, Microgna... OMIM:176670
Charcot-Marie-Tooth Disease Type 2B1
Distal lower limb muscle weakness, Hand muscle atrophy, Decreased amplitude of sensory action pot... ORPHA:98856
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Mitral regurgitation, Congestive heart failure, Intracranial hemorrhage, Abnormality o... ORPHA:363618
Restrictive Dermopathy
Decreased skull ossification, Micrognathia, Arthrogryposis multiplex congenita, Telecanthus, Shor... ORPHA:1662
Lipodystrophy, Familial Partial, Type 2
Atherosclerosis, Hypertension, Hyperinsulinemia, Increased intramuscular fat, Skeletal muscle hyp... OMIM:151660

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
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 4
Azoospermia OMIM:270960
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Desminopathy
Concentric hypertrophic cardiomyopathy, Axial muscle weakness, Congestive heart failure, Loss of ... ORPHA:98909
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent falls, Abnormality of the Achille... ORPHA:34515
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Myopathy, Distal, 1
Proximal muscle weakness, Dilated cardiomyopathy, Amyotrophy of ankle musculature, Weakness of lo... OMIM:160500
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... ORPHA:399058
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Laing Early-Onset Distal Myopathy
Minicore myopathy, Dilated cardiomyopathy, Foot dorsiflexor weakness, Proximal muscle weakness in... ORPHA:59135
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:63273
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Incre... ORPHA:1344
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increas... ORPHA:171442
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Microdontia, Sparse body hair, Ab... ORPHA:2722
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Muscle weakness, Cardiomyopathy, Calf muscle pseudo... OMIM:300376
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Nemaline Myopathy 3
Dilated cardiomyopathy, Nemaline bodies, Frequent falls, Slender build, EMG: myopathic abnormalit... OMIM:161800
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Progre... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dys... OMIM:604286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Gowers sign, In... OMIM:612937
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Dpm3-Cdg
Dilated cardiomyopathy, Muscular dystrophy, Muscle weakness, Calf muscle hypertrophy, Babinski si... ORPHA:263494
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Abnormal intestine morphology, Dysphagia, ... ORPHA:70482
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Fatigable weakness of skeletal mus... ORPHA:206559
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Decreased body weight, Respiratory insufficiency due to muscle weakness, ... OMIM:300580
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Carious teeth, Anonychia, Axillary and groin hyperpigmentation and hypo... ORPHA:69125
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Congenital muscular dystrophy, Gowers sign, Muscular dystrophy, Muscle we... OMIM:602541
Childhood-Onset Nemaline Myopathy
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... ORPHA:171439
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Proximal muscle weakness, Gowers sign, Limb-girdle muscle weakness, Generalized amyotrophy, Muscu... ORPHA:86812
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Progressive muscle weakness, Autophagic vac... OMIM:609452
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:612954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Cardiomyopathy, Respiratory insufficiency, P... OMIM:612999
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Proximal muscle weakness, Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive... ORPHA:206546
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb p... ORPHA:79395
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Progressive muscle weakness, Cardiomyopathy, Respir... ORPHA:98896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Arrhythmia, Ragged-red muscle fibers, EMG: myopathic abnormalities, Sensory ataxia,... OMIM:609286
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Impaired distal proprio... OMIM:258450
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Cirrhotic Cardiomyopathy
Right atrial enlargement, Abnormal cardiac exercise stress test, Third heart sound, Ascites, Card... ORPHA:57777
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Tetraparesis, Dilated cardiomyopathy, Reduced systolic function, Skeletal muscle atrophy, Muscula... OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Frequent falls, Skeletal myopathy, Sternocleidomastoid amyotrophy, W... ORPHA:2596
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Oral mucosal blisters, Hypomelanotic macule, Nail dysplasia, Palmar hyperke... ORPHA:79397
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Palmoplantar hyperhidrosis, Orthokeratosis, Smooth tongue, Abnormali... OMIM:257980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Intellectual Disability, Buenos-Aires Type
Biparietal narrowing, High palate, Dental malocclusion, Hypertelorism, Open bite, Wide nasal brid... ORPHA:3079
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Arterial calcification, Abnormal vascular morphology, Abnormal cardio... ORPHA:289601
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Progressive spastic paraplegia, Abnormal pyramidal sign, Lower limb spastic... ORPHA:320360
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Cardiomyopathy, Difficulty ... OMIM:609308
Autosomal Recessive Progressive External Ophthalmoplegia
Proximal muscle weakness, Action tremor, Parkinsonism with favorable response to dopaminergic med... ORPHA:254886
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Gne Myopathy
Lower limb amyotrophy, Hypothyroidism, Foot dorsiflexor weakness, Weakness of long finger extenso... ORPHA:602
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Hyperkeratosis, Generalized hyperpigmentation ORPHA:2297
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Frequent falls, Flexion contracture, Increased variability in muscle fibe... OMIM:300718
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal muscle weakness, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Ventricular hyper... OMIM:601287
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance ORPHA:34587
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Muscle weakness, Cardiomyopathy, Res... OMIM:615352
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Abnormality of male internal genita... OMIM:261550
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Proximal muscle weakness in lower limbs, Obesity, Increased circulating T4 ... ORPHA:171706
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Myopathy, Myosin Storage, Autosomal Dominant
Waddling gait, Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnorma... OMIM:608358
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Hypotelorism, High palate, Metopic suture patent to nasal root, Small for gestational age, Multip... ORPHA:3369
Salih Myopathy
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Myopathy, Facial palsy, Centrally nuclea... OMIM:611705
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Gowers sign, A... OMIM:310200
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Congenital muscular dystrophy, Abnormal left ventricular function, Muscular ... OMIM:613155
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Hy... ORPHA:267
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... ORPHA:369847
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Hypohidrosis, Orthokeratosis, Hypoplastic sweat glands, Nail dystrophy, Hyperkera... OMIM:617337
Calcification Of Joints And Arteries
Femoral arterial calcification, Iliac arterial calcification, Tibial arterial calcification, Inte... OMIM:211800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Parakeratosis, Enamel hypoplasia, Oligodontia, Hypodontia, Thick hair... OMIM:607626
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Crouzon Syndrome
Lambdoidal craniosynostosis, Shallow orbits, Coronal craniosynostosis, Conductive hearing impairm... OMIM:123500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Progressive muscle weakness, G... OMIM:613561
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Shallow orbits, Micrognathia, Ptosis, Microcephaly, Inguinal hernia, Te... OMIM:182212
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Premature atrial co... ORPHA:99105
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Muscular dystrophy, Muscle weakness, Hypertriglyceridemia, Gait disturbance, Elbow fl... OMIM:616516
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Neurotrophic Keratopathy
Corneal ulceration, Corneal scarring, Corneal perforation, Astigmatism, Corneal stromal edema, Di... ORPHA:137596
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Biparietal narrowing, Synostosis of carpal bones, Upslanted palpebral fissure, Joint stiffness, A... ORPHA:1005
Chromosome 5P13 Duplication Syndrome
Hypotelorism, High palate, Craniosynostosis, Hypertelorism, Short philtrum, Low-set ears, Bulbous... OMIM:613174
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Gowers sign, Muscular dystrophy, Bulbar palsy, Dyspn... OMIM:603511
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Robinow Syndrome, Autosomal Dominant 2
Upslanted palpebral fissure, Long philtrum, Micrognathia, Thin upper lip vermilion, Macrocephaly,... OMIM:616331
Parana Hard Skin Syndrome
Generalized hirsutism, Hyperkeratosis, Generalized hyperpigmentation, Restricted chest movement, ... ORPHA:2812
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Frequent falls, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... ORPHA:100984
Coronary Arterial Fistula
Tachypnea, Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, Co... ORPHA:2041
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618341
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618152
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618153
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617576
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617593
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617592
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Proximal muscle weakness, Progressive distal muscle weakness, Cardio... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Loss of ability to walk, Abnormality of facial musculatu... ORPHA:98897
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Reduced forced vital capacity, Respiratory insufficiency, Bulbar palsy, L... OMIM:255310
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, Lambdoidal craniosynostosis, Hypotelorism, High palate, Low-set ears, Smal... OMIM:314320
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Thoracic aorta calcification, Coarctation of aorta, H... ORPHA:402075
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Infantile Refsum Disease
Arrhythmia, Ataxia, Hepatomegaly, Progressive muscle weakness, Failure to thrive, Short stature, ... ORPHA:772
Cutis Laxa, Autosomal Recessive, Type Iib
Deeply set eye, Narrow nasal ridge, Hypotelorism, Osteopenia, Bulbous nose, Congenital hip disloc... OMIM:612940
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, H... ORPHA:189
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the outer ear, Upslanted palpebral fissure, Atresia of the external auditory canal... ORPHA:79113
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Marshall-Smith Syndrome
Prominent occiput, Brittle hair, Shallow orbits, Thick eyebrow, Microdontia, Highly arched eyebro... OMIM:602535
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Odontoma-Dysphagia Syndrome
Abnormal esophagus morphology, Dysphagia OMIM:164330
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Depressed nasal ridge, Gingival fibromatosis, Micrognathia, Microcephaly, Mandibula... ORPHA:1832
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Foot dorsiflexor weakness, Ventricular fibrillation, Ventricular tachycardi... ORPHA:263297
Muenke Syndrome
Plagiocephaly, Recurrent otitis media, Dental malocclusion, Hypertelorism, High palate, Coronal c... OMIM:602849
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Oral mucosal blisters, Hypomelanotic macule, Palmar hyperkeratosis, Mixed hypo- and hyperpigmenta... ORPHA:79399
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Growth delay, Short stature, Dec... ORPHA:314811
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Muscular dystrophy, Hyperlordosis, Calf muscle p... ORPHA:62
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Complete Atrioventricular Septal Defect
Left-to-right shunt, Tachypnea, Crackles, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Ventricular septal defect, Ventricular fibrillation, Patent foramen ovale, Arrhythmia,... ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent fall... OMIM:607155
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypotelorism, Hypogonadotropic hypogonadism, High palate, Short philtrum, Abnormal toenail morpho... ORPHA:1387
Intellectual Developmental Disorder, Autosomal Dominant 26
Upslanted palpebral fissure, Thick eyebrow, Highly arched eyebrow, Micrognathia, Microcephaly, In... OMIM:615834
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Rhabdomyolysis, Progressive muscle weakness, Progressive... ORPHA:399096
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Hypertension, Arterial... OMIM:208000
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Dysphagia, A... OMIM:256030
Fetal Alcohol Syndrome
Biparietal narrowing, Generalized hirsutism, Joint stiffness, Non-midline cleft lip, Telecanthus,... ORPHA:1915
Cardiofaciocutaneous Syndrome
EEG abnormality, Brittle hair, Long philtrum, Failure to thrive in infancy, Aplasia/Hypoplasia of... ORPHA:1340
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Sparse bod... OMIM:617294
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular dystrophy, Mul... ORPHA:324604
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Demyelinating peripheral neuropathy, Decreased sensory nerve conduction ... ORPHA:101081
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Menke-Hennekam Syndrome 1
Short ear, Upslanted palpebral fissure, Long philtrum, Underdeveloped nasal alae, Thick eyebrow, ... OMIM:618332
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Fatty replacement of skeletal muscle, Hip flexor wea... ORPHA:266
Alpha-Mannosidosis
Hypertelorism, Abnormal helix morphology, Open bite, Gingival overgrowth, Craniofacial hyperostos... ORPHA:61
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Nonketotic hypoglycemia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:201475
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Hypoglycemia, Lethargy, Muscle weakness, Short stature, G... OMIM:618120
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Bradyc... OMIM:618815
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Biparietal narrowing, Long philtrum, Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Hi... ORPHA:228396
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Ophthalmoplegia, Gowers sign, Generalized amyo... ORPHA:169186
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy, Neck muscle weakness, Ventricular septal hypertrophy, Pr... OMIM:612998
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... OMIM:118610
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Onion bulb formation, Steppage gait, Decreased number of peripheral my... OMIM:605588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Frontoocular Syndrome
Narrow mouth, Hypotelorism, High palate, Narrow philtrum, Upslanted palpebral fissure, Short palp... OMIM:605321
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Steppage gait, Distal muscle weakness, Distal a... OMIM:610099
Smith-Magenis Syndrome
Abnormality of the outer ear, Deeply set eye, EEG abnormality, Hypercholesterolemia, Velopharynge... OMIM:182290
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Oral mucosal blisters, Palmoplantar hyperkeratosis, Abnormal toenail morphology, Dystrophic toena... ORPHA:89838
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Hypotelorism, Deeply set eye, Short philtrum, Dolichocephaly, L... OMIM:618672
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Myopathy, X-Linked, With Postural Muscle Atrophy
Proximal muscle weakness, Scapular winging, Flexion contracture, Arrhythmia, Hypertrophic cardiom... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Increased connective tissue, Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalitie... OMIM:608423
Pycnodysostosis
Prominent occiput, Wormian bones, Increased bone mineral density, Spondylolysis, Osteolytic defec... OMIM:265800
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Open bite, Microcephaly, Inguinal hernia, Epicanthus, Macrocephaly, High palate,... ORPHA:85293
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricul... OMIM:610476
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Diabetes mellitus, Preaxial foot polydactyly OMIM:601759
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hy... OMIM:619048
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure OMIM:618234
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Hypertelorism, Low-set ears, Hypoplastic toenails, Sparse eyebrow, Sparse hair,... OMIM:616901
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Severe short stature, Triphalangeal thumb, Everted l... ORPHA:2251
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Dowling-Degos Disease 2
Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule, Hyperkeratotic papule OMIM:615327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Absence Of The Pulmonary Artery
Pedal edema, Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Hypotelorism, Short philtrum, Craniosynostosis, Conductive hearing ... OMIM:201050
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Loss of ability to walk,... OMIM:616812
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Nail dystrophy, Hyperkeratosis OMIM:607936
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Lumbar hyperl... OMIM:610687
Non-Distal Trisomy 13Q
Hypotelorism, High palate, Thin vermilion border, Long philtrum, Hypoplastic toenails, Hernia, Th... ORPHA:1702
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Cardiogenic shock, Left ve... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis, Orthokeratosis, Hyperkeratosis, Eclabion, Hypergranulosis, Congenital nonbullous ic... OMIM:615023
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Young Syndrome
Azoospermia OMIM:279000
Aymé-Gripp Syndrome
Upslanted palpebral fissure, EEG abnormality, Shallow orbits, Long philtrum, Inguinal hernia, Thi... ORPHA:1272
Acrocraniofacial Dysostosis
Micrognathia, Ptosis, Microcephaly, Telecanthus, Abnormal fingernail morphology, Genu valgum, Cle... ORPHA:949
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Beevor's sign, Hypertension, Scapular winging, Ce... ORPHA:437572
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Shashi-Pena Syndrome
Broad nasal tip, Low-set ears, Osteoporosis, Highly arched eyebrow, Ptosis, Posteriorly rotated e... OMIM:617190
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Congestive heart failure, Endocardial fibr... OMIM:302060
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Cardiomyopathy, Reduced vital capacity, Facial palsy, Scapular wing... OMIM:617336
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Shallow orbits, Low-set ears, Oxycephaly, Hypoplasia of the maxilla, Malar flat... OMIM:101120
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Proximal muscle weakness, Flexion contracture, Congenital ... OMIM:613156
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Failure to thrive in infancy, Skeletal muscle atrophy, Respiratory failure, ... ORPHA:254875
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Long eyelashes, Carious teeth, Convex nasal ridge, Micrognathia, Micr... OMIM:613684
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory failure, Ataxia, Hepatomegaly, L... OMIM:614299
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Deeply set eye, Bifid uvula, Hypocalcemic seizures, Long philtrum, Low-set ears, Hypocalcemia, Pa... OMIM:241410
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atrophy, Unsteady gait... ORPHA:3115
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Mental Retardation, Buenos Aires Type
Fair hair, High palate, Hypertelorism, Low-set ears, Long eyelashes, Carious teeth, Blue irides, ... OMIM:249630
Peho Syndrome
Biparietal narrowing, EEG abnormality, Flexion contracture, Abnormal palate morphology, Gingival ... ORPHA:2836
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Long philtrum, Fine hair, Micrognathia, Microcephaly, Epicanthus, Thin upper lip vermilion, Short... ORPHA:391408
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fiber predominan... OMIM:605355
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hypergranulosis, Subungual hyperkeratosis OMIM:173200
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis, Hyperkeratotic papule, Palmar hyper... ORPHA:38
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Abnormal la... ORPHA:2198
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Coarse hair, Low-set ears, Shallow orbits, Long philtrum, Nail dysplasia, Malar flatt... OMIM:612394
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure OMIM:606703
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness OMIM:617756
Apert Syndrome
Bifid uvula, Shallow orbits, Cervical C5/C6 vertebrae fusion, Mandibular prognathia, Cleft palate... OMIM:101200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Short stature, Intrauterine growth retardation OMIM:618097
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Axial muscle weakness, Respiratory insufficiency, Hip contracture, Facial... OMIM:615959
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Hypertrophic cardiomyopathy, Ataxia, Lethargy, Chorea, Ophthalmoplegia OMIM:618683
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Highly arched eyebrow, Microcephaly, Mandibular progna... ORPHA:1327
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Blepharophimosis-Impaired Intellectual Development Syndrome
Underdeveloped nasal alae, Thick eyebrow, Widely spaced teeth, Microdontia, Exaggerated cupid's b... OMIM:619293
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Autism Spectrum Disorder Due To Auts2 Deficiency
Upslanted palpebral fissure, Highly arched eyebrow, Micrognathia, Microcephaly, Inguinal hernia, ... ORPHA:352490
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Irregular menstruation, Blue irides, Mandibular prognathia, Epicanthus, Melanocy... OMIM:101800
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Ataxia OMIM:208750
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Fasciculations, Hepatomegaly, Neck muscle weakness, Short stature, Myopathy, Cardiom... OMIM:610717
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
15Q14 Microdeletion Syndrome
Biparietal narrowing, Deeply set eye, Short philtrum, Long philtrum, Low-set ears, Convex nasal r... ORPHA:261190
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Proximal muscle weakness, Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Auriculocondylar Syndrome 2
Narrow mouth, Cleft at the superior portion of the pinna, Low-set ears, Mandibular condyle hypopl... OMIM:614669
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Myelin outfoldings, ... OMIM:118220
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Osteoglophonic Dysplasia
Shallow orbits, Chordee, Long philtrum, Hypoplastic toenails, Cloverleaf skull, Inguinal hernia, ... OMIM:166250
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Cranioectodermal Dysplasia
Prominent occiput, Hypotelorism, Craniosynostosis, Anteverted nares, Dolichocephaly, Hypodontia, ... ORPHA:1515
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiom... OMIM:602390
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Joint stiffness, Cryptorchidism, Tooth agenesi... ORPHA:1166
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness