| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... |
ORPHA:827 |
| Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
| Macular Dystrophy, Vitelliform, 2 |
|
Abnormal electroretinogram, Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration... |
OMIM:153700 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... |
OMIM:616648 |
| Occult Macular Dystrophy |
|
Abnormal multifocal electroretinogram, Macular dystrophy, Slow decrease in visual acuity |
OMIM:613587 |
| Macular Dystrophy, Vitelliform, 4 |
|
Moderately reduced visual acuity, Drusen, Decreased Arden ratio of electrooculogram, Vitelliform-... |
OMIM:616151 |
| Usher Syndrome, Type I |
|
Visual loss, Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram |
OMIM:276900 |
| Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... |
OMIM:165500 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Abnormal electroretinogram, Optic atrophy, Reduced visual acuity, Attenuation of retinal blood ve... |
OMIM:165510 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Abnormal electroretinogram, Visual field defect, Rod-con... |
OMIM:613809 |
| X-Linked Retinoschisis |
|
Abnormality of vision, Retinoschisis, Abnormal electroretinogram |
ORPHA:792 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Abnormal electroretinogram, Visual field defect, Rod-cone dys... |
OMIM:609923 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Card... |
ORPHA:1215 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Abnormal dark-adapted electroretinogram, Macular degener... |
ORPHA:85128 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Optic atrophy, Reduced visual acuity, Visual field defect... |
OMIM:229300 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Abnormal electroretinogram, Photophobia, Progres... |
OMIM:180020 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Nyctalopia, Arrhythmia, Abnormality of visual evoked potenti... |
ORPHA:96 |
| Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, Abnormality ... |
ORPHA:180 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Central scotoma, Red-green dyschromatopsia, Optic atrophy, R... |
OMIM:125250 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... |
ORPHA:141 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Blindness, Visual loss, Optic atrophy, Undetectable visual evoked... |
OMIM:601338 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Abnormal electroretinogram, Chorioretinal atrophy |
OMIM:136900 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Photophobia, Visual impairment, ... |
ORPHA:1871 |
| Retinitis Pigmentosa 27 |
|
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... |
OMIM:613750 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:601718 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
| Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Abnormal electroretinogram, ... |
OMIM:613428 |
| Retinitis Pigmentosa 4 |
|
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electro... |
OMIM:613731 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual im... |
ORPHA:1574 |
| Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
| Blue Cone Monochromatism |
|
Blue cone monochromacy, Abnormality of retinal pigmentation, Abnormal electroretinogram, Photopho... |
ORPHA:16 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormal electroretinogram, Methylmalonic aciduria, Aminoaci... |
ORPHA:1933 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormality of somatosensory evoked potentials, Cerebral vis... |
ORPHA:52368 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Åland Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Abnormal electroretinogram, Difficulty adjusting from light to d... |
ORPHA:178333 |
| Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Abnormal electroretinogram, Adult-onset nigh... |
OMIM:608133 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Bietti Crystalline Dystrophy |
|
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... |
ORPHA:41751 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... |
OMIM:601152 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Congenital Stationary Night Blindness |
|
Myopia, Abnormality of retinal pigmentation, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Myopia, Abnormal electroretinogram, Optic atrophy |
ORPHA:2971 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... |
ORPHA:436245 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Visual loss, Abnormal electroretinogram, Lacunar stroke, Abnormality of vis... |
OMIM:125310 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Progressive visual loss, Visu... |
ORPHA:1947 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Abnormal electroretinogram, Reduced visual acu... |
OMIM:613194 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual impairment |
ORPHA:2246 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cerebral visual impairment |
ORPHA:1389 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... |
OMIM:120970 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Cerebral visual impairment, Abnormal electroretinogram, Optic atrophy, Hypermetropia, Abn... |
OMIM:616875 |
| Leber Congenital Amaurosis 5 |
|
Visual loss, Hypermetropia, High hypermetropia, Visual impairment, Undetectable electroretinogram |
OMIM:604537 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... |
OMIM:617523 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory... |
ORPHA:320401 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Decreased l... |
OMIM:613341 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials, Reduced visual acuity |
ORPHA:357225 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Abnormal electroretinogram, Bradycardia, Retinal degeneration |
OMIM:617173 |
| Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
| Leber Congenital Amaurosis 9 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:608553 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Abnormal electroretinogram, Retinal dystrophy |
OMIM:607475 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Nyctalopia, Abnormal electroretinogram, Abnormality of pattern visual evoked pote... |
ORPHA:166035 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... |
ORPHA:168491 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cerebral visual impairment, Cryptorchid... |
ORPHA:2510 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Visual loss, Decreased nerve conduction velocity, Optic ... |
OMIM:256600 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... |
OMIM:300476 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:485421 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Cerebral visual impairment, Visual loss, Undetectable visual evoked pote... |
OMIM:619051 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Abnormal electroretinogram, Vitritis, Myopia, Retinal pigment epithelial m... |
ORPHA:284454 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy, Abnormal electrooculogram |
OMIM:179840 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Krabbe Disease |
|
Abnormal flash visual evoked potentials, Blindness, Decreased nerve conduction velocity, Optic at... |
OMIM:245200 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials, Myopia, Decreased nerve conduction velocity, Abnormal au... |
OMIM:601455 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Retinitis Pigmentosa 93 |
|
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy,... |
OMIM:619845 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy, Reduced visual acuity |
ORPHA:508093 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206436 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Abnormal electroretinogram, Reduced visual acuity |
OMIM:613216 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, Abnormality of visual evoked potentials, High myopia |
OMIM:614457 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Cryptorchidism, Optic disc pallor |
ORPHA:314389 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Cryptorchidism, Abnormal electroretinogram, Hematuria |
ORPHA:3121 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Hypoplasia of penis, Abnormal retinal vascular mo... |
ORPHA:791 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Visual impairment |
ORPHA:702 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Infantile Neuroaxonal Dystrophy |
|
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evo... |
ORPHA:35069 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Myopia, Optic atrophy, Cerebral visual impairment |
ORPHA:480898 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Myopia, Renal insufficiency, Menometrorrhagia, Epistaxis, Amblyopia,... |
ORPHA:79430 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
| White-Sutton Syndrome |
|
Myopia, Optic nerve hypoplasia, Mild myopia, Abnormal electroretinogram, Hypermetropia, Abnormali... |
OMIM:616364 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Optic atrophy, Abnormal nerve conduction velocity, Abnor... |
ORPHA:98755 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Chorioretinal coloboma |
ORPHA:163961 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Cln3 Disease |
|
Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, T-wave inver... |
ORPHA:228346 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, ... |
ORPHA:309256 |
| Leber Congenital Amaurosis 6 |
|
Photophobia, High hypermetropia, Severely reduced visual acuity, Undetectable electroretinogram, ... |
OMIM:613826 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Blindness, Retinal detachment, Large hyperpigmented retina... |
OMIM:193235 |
| Usher Syndrome Type 3 |
|
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231183 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, ... |
ORPHA:309263 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Myopia, Abnormal electroretinogram, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogra... |
OMIM:613810 |
| Oligocone Trichromacy |
|
Photophobia, Abnormal electroretinogram |
ORPHA:75378 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, ... |
ORPHA:309271 |
| Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Abnormal electroreti... |
OMIM:304700 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopia, Hypertrophic cardiomyopathy, Abnormal electroretinogram |
ORPHA:1369 |
| Usher Syndrome Type 1 |
|
Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia, High hypermetropia |
ORPHA:231169 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
| Cockayne Syndrome A |
|
Renal insufficiency, Retinal atrophy, Proteinuria, Abnormal auditory evoked potentials, Decreased... |
OMIM:216400 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... |
OMIM:613835 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Undetectable visual evoked potentials, Hypoplastic ... |
OMIM:614225 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myopia, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, Hydrocele testis... |
ORPHA:79330 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Abnormal electroretinogram, Peripheral visua... |
OMIM:613767 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Constriction of peripheral visual field, Blindness, Undetectable electroretinogr... |
OMIM:300578 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve conduction... |
OMIM:133540 |
| Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy, Renal cortical cysts |
ORPHA:79323 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Cardiomyopathy, Reduced left ventricular ejection fraction, Abnormality of visual e... |
ORPHA:258 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Abnormal electroretinogram, Sick sinus syndrome, Bradycardia, Prolonge... |
ORPHA:542306 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... |
ORPHA:263297 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... |
OMIM:610198 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Ab... |
ORPHA:1390 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... |
ORPHA:52427 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Severely reduced visual acuity, Abnormal electroretinogram, ... |
ORPHA:65 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Usher Syndrome |
|
Myopia, Blindness, Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, A... |
ORPHA:886 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Visual impairment, Reti... |
ORPHA:2822 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Undetectable visual evoked potentials, Severely r... |
OMIM:259720 |
| Van Den Bosch Syndrome |
|
Choroideremia, Abnormal electroretinogram, High myopia |
ORPHA:3417 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Urinary incontinenc... |
ORPHA:512 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Optic disc pallor, Blindness, Hypospadias, Optic neuropathy, Conc... |
OMIM:252010 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Abnormal electroretinogram, Optic atrophy, Visual impairment |
ORPHA:1154 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Retrograde ejaculation, S... |
ORPHA:230 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Visual loss, Optic atrophy, Telangiectasia, Yellow/white l... |
ORPHA:93400 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Abnormal electroretinogram, Hy... |
ORPHA:110 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Constriction of peripheral visual field, Myocardial infarction, Cerebral hemorrhage, Congestive h... |
ORPHA:90065 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Cerebral visual impairment, Visual loss, 3-Methylglutaconic aciduria, Ethylmalonic acid... |
OMIM:203700 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ketonuria, Amblyopia, Cerebral visual impairment, Optic atro... |
ORPHA:480864 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Jaw claudication, Ne... |
ORPHA:85443 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Pulmonary arterial hypertension, Optic nerve compression... |
ORPHA:667 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Abnormal electroretinogram, O... |
ORPHA:1173 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis,... |
OMIM:268100 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Dec... |
ORPHA:320391 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Abnormal electroretinogram, Stage 5 chronic kidney disease, Pigmentary retinop... |
OMIM:608629 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Usher Syndrome Type 2 |
|
Myopia, Scotoma, Visual loss, Nyctalopia, Abnormal electroretinogram, Hemianopia |
ORPHA:231178 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Abnormal electroretinogram, Hydrocele testis, Progressive visual loss, Rod-cone dystrophy, Clitor... |
ORPHA:96181 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinal fold, Hypermetropia |
OMIM:108145 |
| Developmental And Epileptic Encephalopathy 28 |
|
Abnormal electroretinogram, Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Abnormal EKG, T-wave inversion, Abnormality of the ureter |
ORPHA:1666 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Right bundle branch block, Pollakisuria, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne... |
OMIM:606995 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Joubert Syndrome 25 |
|
Abnormal electroretinogram |
OMIM:616781 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon |
ORPHA:2151 |
| Mucolipidosis Type Iv |
|
Photophobia, Abnormality of retinal pigmentation, Abnormal electroretinogram, Retinopathy |
ORPHA:578 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Retinal degeneration, Optic atrophy, Hypoplasia of the retina, Retinal d... |
OMIM:253280 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Lead Poisoning |
|
Decreased female libido, Abnormality of the autonomic nervous system, Abnormality of the menstrua... |
ORPHA:330015 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Machado-Joseph Disease |
|
Diplopia, Urinary bladder sphincter dysfunction, Abnormal electrooculogram, Abnormal autonomic ne... |
OMIM:109150 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal electroretinogram, Reduced visual acuity |
OMIM:614195 |
| Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Renal insufficiency, Papilledema, Urinary incontinence, Abnormality o... |
ORPHA:3385 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... |
OMIM:263800 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
| Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis, Abnormal T-wave |
ORPHA:444072 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Hypoplasia of th... |
ORPHA:3464 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Hamamy Syndrome |
|
Cryptorchidism, Mitral regurgitation, Prolonged QRS complex, High myopia |
OMIM:611174 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha... |
OMIM:232300 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... |
ORPHA:31826 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Abnormal visual field test, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Amblyopia, Abn... |
ORPHA:45358 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Cryptorchidism, Abnormal electroretinogram, Pigmentary retinopath... |
OMIM:214100 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... |
ORPHA:2131 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Cockayne Syndrome |
|
Urinary incontinence, Abnormal electroretinogram, Photophobia, Retinal arteriolar constriction, R... |
ORPHA:191 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Oliguria, ST segment depression, Hypotension, Abnorma... |
ORPHA:466650 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysf... |
ORPHA:273 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Decreased urinary potassium, Shortened PR interval, Impaired myocardial co... |
ORPHA:79102 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Neurofibromatosis Type 1 |
|
Myopia, Abnormality of retinal pigmentation, Precocious puberty, Cryptorchidism, Abnormal electro... |
ORPHA:636 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe... |
OMIM:601992 |
| Coccidioidomycosis |
|
Pericarditis, Renal insufficiency, Abnormal retinal morphology, Abnormality of the male genitalia... |
ORPHA:228123 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Pulmonic stenosis, Left axis deviation |
OMIM:620294 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Degcags Syndrome |
|
Tachycardia, Hypospadias, Abnormal renal medulla morphology, Cryptorchidism, Abnormal electroreti... |
OMIM:619488 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
