Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
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 |
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 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
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 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
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 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
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 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 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... |
ORPHA:261529 |
Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens |
ORPHA:48 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
Cardiomyopathy, Dilated, 1I |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... |
OMIM:604765 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... |
OMIM:616201 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi... |
OMIM:618815 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... |
OMIM:618782 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... |
OMIM:614022 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, Le... |
OMIM:619048 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... |
OMIM:617222 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... |
ORPHA:60041 |
Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
Timothy Syndrome |
|
Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Patent foramen ovale, Pulmonary a... |
OMIM:601005 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Abnormal renal physiology, Arrhythmia, Atrioventricular ... |
ORPHA:85447 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardio... |
OMIM:212138 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... |
OMIM:300200 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic... |
OMIM:616277 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertr... |
OMIM:618235 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... |
ORPHA:216694 |
Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of the ventricu... |
OMIM:615745 |
Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... |
OMIM:115200 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Hepatomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy, Impotenc... |
OMIM:235200 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia |
ORPHA:2183 |
46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Hypergl... |
OMIM:616299 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... |
ORPHA:432 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... |
OMIM:618052 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Dysplastic teste... |
OMIM:608800 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, ... |
OMIM:614702 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
Wild Type Attr Amyloidosis |
|
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy... |
ORPHA:330001 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Atrial flutter, Left bundle branch block, Glomerular sclerosis... |
ORPHA:439232 |
Cardiomyopathy, Dilated, 2G |
|
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... |
OMIM:619897 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Abnormali... |
OMIM:609286 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... |
OMIM:261740 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:620135 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
Attrv122I Amyloidosis |
|
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... |
ORPHA:85451 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... |
ORPHA:45453 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
Glycogen Storage Disease Iv |
|
Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly... |
OMIM:232500 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... |
OMIM:614954 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... |
ORPHA:101016 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... |
ORPHA:57777 |
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 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... |
OMIM:115197 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... |
ORPHA:542306 |
Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Azoospermia |
OMIM:618300 |
Coronary Arterial Fistula |
|
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... |
ORPHA:2041 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure, Macroorchidism |
OMIM:300886 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S... |
OMIM:614473 |
Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
Familial Thyroid Dyshormonogenesis |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Abnormal circulating... |
ORPHA:95716 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... |
ORPHA:3092 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... |
ORPHA:280679 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... |
OMIM:612124 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, V... |
OMIM:600649 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... |
ORPHA:99330 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... |
ORPHA:860 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... |
OMIM:601154 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia |
ORPHA:1445 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Bradycardia, Elevated circulating creatine kinase c... |
OMIM:618775 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Congestive heart failure, Abnormality of iron homeostasis, Erectile dysfunction, Hepatomegaly, El... |
ORPHA:465508 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Danon Disease |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar... |
OMIM:300257 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... |
OMIM:612098 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
Loeffler Endocarditis |
|
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... |
ORPHA:75566 |
Cardiomyopathy, Dilated, 1Ii |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr... |
OMIM:615184 |
Tetanus |
|
Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le... |
ORPHA:3299 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... |
ORPHA:10 |
Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... |
OMIM:601214 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Cardiomyopathy, Dilated, 2F |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ... |
OMIM:619747 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism |
ORPHA:88643 |
Sheehan Syndrome |
|
Bradycardia, Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insuff... |
ORPHA:91355 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... |
OMIM:613251 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly |
OMIM:602079 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Bradycardia, Hypoplasia of the thymus, Conotruncal defect, Third d... |
ORPHA:40366 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
Atrial Septal Defect, Sinus Venosus Type |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... |
ORPHA:99105 |
Complete Atrioventricular Septal Defect |
|
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... |
ORPHA:1329 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... |
ORPHA:75565 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Bradycardia, Abnormal renal corticomedullary differentiation, Secundum atrial septa... |
OMIM:617397 |
Cardiomyopathy, Dilated, 1G |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... |
OMIM:604145 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Isolated Right Ventricular Hypoplasia |
|
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... |
ORPHA:439 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... |
ORPHA:90673 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine co... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje... |
OMIM:614096 |
Glutamine Deficiency, Congenital |
|
Hyperammonemia, Hypoglutaminemia, Bradycardia |
OMIM:610015 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Peripartum Cardiomyopathy |
|
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... |
ORPHA:563 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Abnormal circ... |
ORPHA:90674 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hepatomegaly, Prolonged QT interval, Hyperinsulinemia, Bradycardia, Atrial ... |
OMIM:613327 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... |
OMIM:300845 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... |
ORPHA:324410 |
D-Glyceric Aciduria |
|
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Micropeni... |
OMIM:220120 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic i... |
ORPHA:276575 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Bilateral cryptorchidism, Tricuspid regurgitation, Cardiomegaly, Atrial sep... |
OMIM:618652 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... |
ORPHA:226313 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirub... |
OMIM:269920 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... |
OMIM:618920 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Reduced left ventricular eje... |
OMIM:201475 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... |
ORPHA:3286 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, First degree atrioventricular ... |
OMIM:160900 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperamm... |
ORPHA:42 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
Familial Atrial Myxoma |
|
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... |
ORPHA:615 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... |
OMIM:300280 |
Refsum Disease, Classic |
|
Congestive heart failure, Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnor... |
OMIM:266500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Elevated c... |
OMIM:255120 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec... |
OMIM:616812 |
Familial Glucocorticoid Deficiency |
|
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... |
ORPHA:361 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Acute kidney injury, Urinary incontinence, Bradycardia, Hypocalcemia, Myoglobinuria... |
ORPHA:94093 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Hepatomegaly, ... |
OMIM:277400 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... |
ORPHA:300751 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96263 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Elevated circulating creatine kinase concentration,... |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... |
OMIM:613873 |
Necrotizing Enterocolitis |
|
Bradycardia, Hypotension, Hyponatremia, Abnormal heart morphology, Shock |
ORPHA:391673 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Heart block, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuri... |
ORPHA:228308 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Urinary incontinence, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra... |
ORPHA:1677 |
Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ... |
ORPHA:99827 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... |
ORPHA:96264 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Hypertrophic cardiomyopathy, P... |
OMIM:619051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Pulmonary arterial hypertension, Cardiomegaly, Hyperprolinemia |
OMIM:619064 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... |
ORPHA:300298 |
Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg... |
ORPHA:137675 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Bradycardia |
ORPHA:565624 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased glomerular filtra... |
ORPHA:85450 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Bradycardia, Oliguria, Hypot... |
ORPHA:90051 |
Congenital Myopathy 22A, Classic |
|
Mildly elevated creatine kinase, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia |
OMIM:619170 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Increased circulating free fatty acid level, Bradycardia |
OMIM:610768 |
Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614921 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect |
OMIM:126320 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin... |
ORPHA:368 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
Wolfram Syndrome 1 |
|
Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroidism, Hydronephros... |
OMIM:222300 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
Interatrial Communication |
|
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... |
ORPHA:1478 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension, Mic... |
ORPHA:319213 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Elevated cir... |
ORPHA:268 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Right ventricular hyper... |
ORPHA:335 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Bradycardia, Capillary leak, Hyperamylasemia, Hypotension, Hypovolemia, Internal hem... |
ORPHA:99826 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Prolonged QT interval, Hypocalcemia, Patent foramen ovale, Hy... |
ORPHA:26793 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Elevated circulating c... |
OMIM:608836 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, El... |
ORPHA:308552 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Hypertension, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circ... |
OMIM:618886 |
Long-Olsen-Distelmaier Syndrome |
|
Congestive heart failure, Hyperammonemia, Secundum atrial septal defect, Severely reduced left ve... |
OMIM:620609 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, In... |
OMIM:218700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... |
OMIM:615616 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... |
ORPHA:251066 |
Mulibrey Nanism |
|
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly |
OMIM:253250 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sple... |
OMIM:256550 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalce... |
ORPHA:2239 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect |
OMIM:614653 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Oligozoospermia, Elevated circulating creatine kinase concentration, P... |
OMIM:602668 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac... |
OMIM:145600 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Classic Galactosemia |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... |
ORPHA:79239 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... |
OMIM:618280 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Yellow Fever |
|
Hematemesis, Acute kidney injury, Reduced left ventricular ejection fraction, Bradycardia, Capill... |
ORPHA:99829 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Ventricular fibrillation, Tachycardia |
OMIM:603829 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... |
OMIM:616897 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Goiter, Tachycardia, Palpitations |
OMIM:188580 |
Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Ventricular septal defe... |
ORPHA:3427 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Elevated urinary norepinephrin... |
OMIM:171420 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Bradycardia, Cardiomegaly, Urinary retention, Abnormal cardiac ... |
ORPHA:97297 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... |
OMIM:252920 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Increased total bilirubin, Splenomegaly, Tachycardia, Abnormal urinary ... |
ORPHA:90037 |
H Syndrome |
|
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... |
ORPHA:168569 |
Sickle Cell Disease |
|
Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Priapism, Splenomegaly, Cardiomegaly, Rena... |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... |
OMIM:620066 |
Aorta Coarctation |
|
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... |
ORPHA:1457 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Bradycardia |
ORPHA:70 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage, Glomer... |
ORPHA:99931 |
Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia |
ORPHA:83600 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... |
OMIM:620306 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,... |
OMIM:613239 |
Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
Renal Nutcracker Syndrome |
|
Hematuria, Orthostatic hypotension, Tachycardia, Infertility, Renal artery stenosis, Dyspareunia,... |
ORPHA:71273 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Hypertrophic ... |
ORPHA:391428 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Hydroureter, Bradycardia, Dysuria, Renal cyst, Ureterocele, Ur... |
ORPHA:79404 |
Cardiac Diverticulum |
|
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... |
ORPHA:1686 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Congestive heart failure, Hypophosphatemic rickets, Hypertension, Renal artery stenosis, Cardiome... |
OMIM:208000 |
Craniofaciofrontodigital Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor... |
ORPHA:363705 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesicoureteral ref... |
OMIM:130650 |
Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E... |
OMIM:611878 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... |
ORPHA:91351 |
Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Impotence, Increased urinary N-acety... |
OMIM:268800 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia, Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo... |
OMIM:602782 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Truncus arteriosus, Aplasia/Hypoplasia of the thymus, Pulmonic ... |
ORPHA:3426 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug... |
OMIM:605373 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunc... |
OMIM:105210 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Bloom Syndrome |
|
Cryptorchidism, Decreased fertility in females, Type II diabetes mellitus, Azoospermia |
OMIM:210900 |
Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... |
ORPHA:786 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
Familial Aortic Dissection |
|
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation |
ORPHA:229 |
Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Acute kidney injury, Increased circulating NT-proBNP conce... |
ORPHA:466677 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Mogs-Cdg |
|
External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyr... |
ORPHA:79330 |
Pheochromocytoma |
|
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Renal artery stenosis, Elevate... |
OMIM:171300 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus |
ORPHA:125 |
Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... |
OMIM:620642 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Cardiomegaly, Bicusp... |
OMIM:300855 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:619259 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation |
OMIM:261990 |
Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bicornuate... |
ORPHA:84 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Ectopic kidney, Hypergonadotropic hypogonadism, Abnormal heart morphology, Cryp... |
OMIM:227650 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Transposition of the great arteries, Aortic regurgitation, Cardiomega... |
ORPHA:3384 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Sinus bradycardia |
OMIM:618397 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
Fucosidosis |
|
Mucopolysacchariduria, Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... |
OMIM:231005 |
Steinert Myotonic Dystrophy |
|
Impotence, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Hyperins... |
ORPHA:273 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility |
ORPHA:158687 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ... |
ORPHA:365 |
Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Splenomegaly, Card... |
OMIM:619991 |
Mucolipidosis Ii Alpha/Beta |
|
Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Increased serum be... |
OMIM:252500 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Chemodectoma, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Hypertension associ... |
OMIM:115310 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal... |
ORPHA:116 |
Abetalipoproteinemia |
|
Congestive heart failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceride... |
ORPHA:14 |
3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, 3-Methylglutaric aciduria, Bradycardia |
OMIM:617248 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension, Cerebral ischemia, P... |
ORPHA:904 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, R... |
OMIM:614437 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Cryptorchidism, Hepatomegaly |
OMIM:618143 |
Cystinosis, Nephropathic |
|
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Splenomegal... |
OMIM:219800 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... |
ORPHA:96191 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... |
ORPHA:99125 |
Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection f... |
ORPHA:581 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Small vessel vasculitis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Con... |
OMIM:620376 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus |
OMIM:617022 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect,... |
OMIM:300967 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp... |
ORPHA:91387 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... |
ORPHA:534 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatome... |
OMIM:256040 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology |
ORPHA:2463 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale, Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrh... |
OMIM:620371 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:608013 |
Holt-Oram Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul... |
OMIM:142900 |
Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou... |
ORPHA:95430 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Hypospadias, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulmonary... |
ORPHA:3472 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Cholelithiasis, Azoospermia |
ORPHA:2072 |
Fucosidosis |
|
Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria |
OMIM:230000 |
X-Linked Intellectual Disability, Snyder Type |
|
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy |
ORPHA:3063 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hypothyroidism, Hepatosplenomegaly, Raynaud phenomenon, Cardiomegaly... |
ORPHA:51 |
Generalized Arterial Calcification Of Infancy |
|
Left ventricular systolic dysfunction, Hypophosphatemic rickets, Hypertension, Weak pulse, Transi... |
ORPHA:51608 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Urinary incontinence |
OMIM:619482 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia |
ORPHA:79280 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi... |
OMIM:618278 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Ventricular septal defect, Hypertrophic cardiomyopathy, Pulmonic s... |
OMIM:163950 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly, Cor pulmonale |
OMIM:219700 |
Singleton-Merten Syndrome 1 |
|
Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcifi... |
OMIM:182250 |