Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration |
OMIM:614844 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Abnormality of the urinary system, Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Spontaneous, recurrent ep... |
ORPHA:182050 |
Sebastian syndrome |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... |
OMIM:605249 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Renal cyst, Rod-cone dystrophy, Renal insufficiency, Abnormality of the kidney |
OMIM:615987 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... |
OMIM:155100 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Retinal dystrophy, Renal cyst, Rod-cone dystrophy |
OMIM:605231 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Nephronophthisis, Pulmonic stenosis, Polycystic kidney dysplasia, Ao... |
OMIM:615382 |
Hanac Syndrome |
|
Hematuria, Retinal vascular tortuosity, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Rod-cone dystrophy, Renal insu... |
OMIM:615993 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Bernard-Soulier Syndrome |
|
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... |
OMIM:231200 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Retinopathy |
OMIM:617562 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Slc35A1-Cdg |
|
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... |
ORPHA:137675 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Retinal dystrophy, Polycystic kidney dysplasia, Hypoplasia of the retina |
OMIM:263100 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, ... |
OMIM:613095 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Urinary retention, Palpitations, Decreased urinary potassium, Tremor, Shor... |
ORPHA:79102 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia |
OMIM:153670 |
Bernard-Soulier Syndrome |
|
Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, Spontaneous, recurre... |
ORPHA:274 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Raynaud phenomenon, Nephropathy, Renal insu... |
OMIM:611773 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary renal cell carcin... |
OMIM:145001 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Shortened PR interval, Splenomegaly |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Oligosacchariduria, Shortened P... |
ORPHA:308552 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Morning glory anomaly, Retinal coloboma, M... |
OMIM:120330 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia, Epistaxis |
OMIM:273900 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Optic atrophy, Hydronephrosis, Increased mean platelet volume, Pulmonic stenosis, Un... |
OMIM:616737 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis |
OMIM:617718 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s... |
ORPHA:542306 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... |
ORPHA:1909 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Retinal coloboma, Renal dysplasia, Optic disc coloboma, Multicystic kidney dysp... |
ORPHA:1475 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Joubert Syndrome 20 |
|
Renal cyst, Retinopathy, Abnormal retinal morphology |
OMIM:614970 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Oligosacchariduria, Vasculitis, Transient ischemic attack, Shortened... |
ORPHA:365 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst, Retinal dystrophy |
OMIM:614465 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Renal cyst, Nephropathy, Chronic kidney ... |
OMIM:617056 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia |
OMIM:608776 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Renal dysplasia, Hepatic cysts, Enlarged kidney, Renal insufficiency,... |
OMIM:208540 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... |
ORPHA:157 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Ureteral duplication, Hydronephrosis, Antenatal intracerebral hemorrhage,... |
OMIM:608836 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Pigmentary retinopathy, Aminoaciduria, Opt... |
OMIM:214110 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Cardiomyopa... |
ORPHA:228308 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Syndromic Diarrhea |
|
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Hypoplasia of the thymus, Aorti... |
ORPHA:84064 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... |
OMIM:313900 |
Arima Syndrome |
|
Renal tubular atrophy, Occipital meningocele, Chorioretinal coloboma, Nephronophthisis, Retinal d... |
OMIM:243910 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Thrombocytosis, Increased mean platelet volume, Aortic regurgitation, Pulmonic steno... |
OMIM:222470 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Anemia, Renal... |
OMIM:256100 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia, Rod-cone dystrophy |
ORPHA:140976 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Lacticaciduria, Glutaric aciduria, Cardiomyopathy, Polycystic kidney dyspl... |
ORPHA:26791 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Branchiootorenal Syndrome 1 |
|
Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c... |
OMIM:113650 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Trisomy 17P |
|
Urethral valve, Hydronephrosis, Hypoplasia of penis, Urethral stenosis, Polycystic kidney dysplas... |
ORPHA:261290 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Prot... |
OMIM:603585 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
Lathosterolosis |
|
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Myelomenin... |
OMIM:607330 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Renal cyst, Stage... |
OMIM:615994 |
Trisomy X |
|
Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Nephronophthisis, Anemia, Renal cyst, Stage 5 chronic kidney disease, Rod-cone d... |
OMIM:266920 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Renal dysplasia, Rod-cone dystrophy, Unilateral renal agenesis, Polycystic kidney... |
ORPHA:2237 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, Polycystic kidney dysplasia, Dilatation of the renal pelvis, Ne... |
ORPHA:314588 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Optic atrophy, Hydronephrosis, Increased mean platelet volume, Unilateral renal agen... |
ORPHA:487796 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Joubert Syndrome 39 |
|
Retinal dystrophy, Polycystic kidney dysplasia |
OMIM:619562 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Retinal dysplasia, Renal dysplasia, Renal cyst, Micropenis, Optic nerve dysplasia |
OMIM:615287 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Splenic cyst, Renal cyst, Splenomegaly, Polycystic kidney dysplasia, Portal hyp... |
OMIM:610199 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Alagille Syndrome 2 |
|
Hypertension, Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... |
OMIM:610205 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts |
ORPHA:2924 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypertension, Pancreatic cysts, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary t... |
ORPHA:731 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Retinal degeneration, Nephronophthisis, Renal corticomedullary cysts, Anem... |
OMIM:613550 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pancreatic cysts, Decreased glomerular filtration rate, Hepatic cysts, Renal cyst, ... |
ORPHA:730 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Tuberous Sclerosis Complex |
|
Hypertension, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease, Po... |
ORPHA:805 |
Caroli Syndrome |
|
Leukocytosis, Leukopenia, Hematemesis, Melena, Hypersplenism, Polycystic kidney dysplasia, Thromb... |
ORPHA:480520 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Nephronophthisis, Hepatic cysts, Urogenital sinus anomaly, Polycystic kidney dysplas... |
ORPHA:1505 |
Phelan-Mcdermid Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Vesicoureteral reflux |
OMIM:606232 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Hypertension, Kinetic tremor, Pancreatic cysts, Nephronophthisis, Renal co... |
OMIM:613159 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Nephrotic synd... |
ORPHA:330001 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Retinal dystrophy |
OMIM:611560 |
Orofaciodigital Syndrome I |
|
Hypertension, Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Pro... |
OMIM:311200 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Joubert Syndrome 35 |
|
Hydronephrosis, Rod-cone dystrophy, Recurrent urinary tract infections, Multicystic kidney dyspla... |
OMIM:618161 |
Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
Caroli Disease |
|
Leukocytosis, Polycystic kidney dysplasia, Portal hypertension, Splenomegaly |
ORPHA:53035 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
Coach Syndrome 1 |
|
Hypertension, Optic disc pallor, Nephronophthisis, Multiple small medullary renal cysts, Renal cy... |
OMIM:216360 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Meningocele, Renal hypoplasia, Abnormality of thrombocytes, Retinal arteriolar tortu... |
ORPHA:567 |
Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Polycythemia, Palpitat... |
ORPHA:892 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... |
ORPHA:358 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Micropenis, Polycystic kidney dysplasia, Tricuspid regurgitation |
OMIM:263520 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis |
OMIM:236500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Asplenia, Pulmonic stenosis, Aortic valve st... |
OMIM:615415 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... |
ORPHA:75565 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
15q26 overgrowth syndrome |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Duplication of renal pelvis, Polycystic kidney ... |
DECIPHER:81 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, Renal insu... |
OMIM:614922 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
3-Methylglutaconic Aciduria Type 7 |
|
Neutropenia, Opisthotonus, Nephrocalcinosis, Renal cyst, Cardiomyopathy, 3-Methylglutaconic acidu... |
ORPHA:445038 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndrome, Abnormality of the kidney, Incr... |
ORPHA:85443 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia |
OMIM:236700 |
Joubert Syndrome 14 |
|
Hypertension, Renal cyst, Morning glory anomaly |
OMIM:614424 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Stiff-Person Syndrome |
|
Hypertension, Opisthotonus, Anemia, Exaggerated startle response, Tachycardia |
OMIM:184850 |
Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
Distal Monosomy 12Q |
|
Hydronephrosis, Micropenis, Polycystic kidney dysplasia, Vesicoureteral reflux, Ectopic kidney |
ORPHA:96149 |
Meckel Syndrome, Type 1 |
|
Abnormality of the ureter, Renal agenesis, Asplenia, Splenomegaly, Accessory spleen, Polycystic k... |
OMIM:249000 |
Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... |
ORPHA:2970 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma |
ORPHA:2031 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis |
OMIM:300209 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Retinal degeneration, Renal cyst, Rod-cone dystrophy, Heart murmur |
ORPHA:166035 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Splenomegaly, Hepatosplenomegaly, Renal cortical microcysts, Pigmentary retinopathy, ... |
OMIM:614866 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Myelomeningocele |
ORPHA:66637 |
Bardet-Biedl Syndrome |
|
Hypertension, Nephrotic syndrome, Multicystic kidney dysplasia, Pigmentary retinopathy, Hypoplasi... |
ORPHA:110 |
Floating-Harbor Syndrome |
|
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Congenital posterior urethral valv... |
ORPHA:2044 |
Roberts Syndrome |
|
Thrombocytopenia, Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary ... |
ORPHA:1834 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Cardiomyopathy, Rod-cone dy... |
OMIM:212065 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Optic atrophy, Hypoplasia of the fovea, Cherry red spot of the macula, Hepatosple... |
ORPHA:93400 |
Trisomy 13 |
|
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Displacement of the urethral meatus, Ab... |
ORPHA:3378 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di... |
OMIM:137920 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Polycythemia, Renal cell carcinoma,... |
OMIM:193300 |
Bor Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... |
ORPHA:107 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia |
OMIM:310200 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Retinal degeneration, Hypoautofluorescent retinal lesion, Renal cyst, Rod-cone ... |
OMIM:250410 |
Femoral-Facial Syndrome |
|
Renal agenesis, Pulmonic stenosis, Micropenis, Polycystic kidney dysplasia, Abnormal renal collec... |
OMIM:134780 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Renal cell carcinoma, Anemia, Gastrointestinal hemorrhage, Multiple re... |
ORPHA:2869 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxis, Anemia, Abnormal sp... |
ORPHA:464329 |
Mody |
|
Renal cyst, Glycosuria, Elevated hemoglobin A1c, Nephropathy, Retinopathy, Abnormality of the kidney |
ORPHA:552 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Decreased glomerular fi... |
ORPHA:18 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney... |
ORPHA:2973 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Renal cyst, Rod-cone dystrophy, Hyperoxaluria |
OMIM:601539 |
Joubert Syndrome 1 |
|
Optic disc pallor, Chorioretinal coloboma, Occipital myelomeningocele, Retinal dysplasia, Retinal... |
OMIM:213300 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multiple glomerular cysts, Stage 5 chronic kidney disease, Multicystic kidney d... |
OMIM:267010 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Congestive heart failure, Ab... |
OMIM:229300 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... |
ORPHA:3093 |
Joubert Syndrome 2 |
|
Chorioretinal coloboma, Abnormal renal physiology, Nephronophthisis, Retinal dystrophy, Renal cys... |
OMIM:608091 |
Joubert Syndrome With Hepatic Defect |
|
Chorioretinal coloboma, Optic disc coloboma, Splenomegaly, Tremor, Multicystic kidney dysplasia, ... |
ORPHA:1454 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Retinal degeneration, Pancreatic cysts, Nephritis, Renal cyst, Chronic k... |
OMIM:208500 |
Meckel Syndrome, Type 2 |
|
Meningocele, Renal cyst |
OMIM:603194 |
Sandhoff Disease |
|
Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response, Hepatosplen... |
OMIM:268800 |
Kleefstra Syndrome |
|
Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Hypoplasia of penis, ... |
ORPHA:261494 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplas... |
ORPHA:79404 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Renal cyst, Extramedullary hematopoiesis, Dark urine |
ORPHA:79303 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of the ureter, Abnormal renal morphology, Abnormal EKG, T-... |
ORPHA:1666 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Budd-Chiari syndrome, Hepatic cysts, Anemia, Renal cyst, Abnormality of bladder... |
ORPHA:284 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Orthostatic syncope, Anemia, Elevated urinary dopamine, Abnorma... |
ORPHA:230 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Hydronephrosis, Optic disc pallor, Pelvic kidney, Aortic regurgitation, Renal cyst, ... |
ORPHA:464311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Exaggerated startle response, Pulmonic ... |
OMIM:253800 |
Zellweger Syndrome |
|
Hypospadias, Optic atrophy, Hydronephrosis, Multicystic kidney dysplasia, Abnormal chorioretinal ... |
ORPHA:912 |
Cystic Echinococcosis |
|
Splenic cyst, Membranous nephropathy, Hepatic cysts, Renal cyst, Eosinophilia, Ovarian cyst |
ORPHA:400 |
Tuberous Sclerosis 1 |
|
Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Wolff-Parkins... |
OMIM:191100 |
Pearson Syndrome |
|
Neutropenia, Cardiac conduction abnormality, Lacticaciduria, Anemia, Cardiomyopathy, Renal cyst, ... |
ORPHA:699 |
Tuberous Sclerosis 2 |
|
Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Wolff-Parkins... |
OMIM:613254 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Hydronephrosis, Renal cyst, Vesicoureteral reflux, Microphallus |
OMIM:618454 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Increased urinary potassium, Palpitations... |
ORPHA:231625 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:99880 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Optic atrophy, Ectopic kidney, Renal cyst, Optic disc coloboma, Re... |
OMIM:122470 |
Neuromuscular Oculoauditory Syndrome |
|
Multiple renal cysts, Retinal pigment epithelial mottling, Reduced renal corticomedullary differe... |
OMIM:618733 |
Vacterl/Vater Association |
|
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... |
ORPHA:887 |
Parathyroid Carcinoma |
|
Shortened QT interval, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insu... |
ORPHA:143 |
Chromosome 17Q12 Deletion Syndrome |
|
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... |
OMIM:614527 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst, Retinopathy |
OMIM:615636 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Cystic renal dysplasia, Optic atrophy, Renal agenesis, Increased urine alpha-ketoglutarate concen... |
OMIM:220500 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney |
OMIM:608022 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Cardiomyopathy, Hepatosplenomegaly, ... |
ORPHA:79255 |
Pagod Syndrome |
|
Meningocele, Abnormality of the spleen, Optic atrophy, Renal hypoplasia/aplasia, Multicystic kidn... |
ORPHA:991 |
Meckel Syndrome, Type 4 |
|
Meningocele, Renal cyst |
OMIM:611134 |
Ulbright-Hodes Syndrome |
|
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology |
ORPHA:3404 |
2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Hydronephrosis, Mitral regurgitation, Aortic regurgitation, Optic nerve hypoplasia... |
ORPHA:261349 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Campomelia, Cumming Type |
|
Multiple renal cysts, Multicystic kidney dysplasia, Pancreatic cysts |
ORPHA:1318 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Horseshoe kidney, Long penis, Accessory spleen, Polycystic kidney dysplasia |
OMIM:268300 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Mult... |
ORPHA:93111 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Hydronephrosis, Optic disc pallor, Pelvic kidney, Aortic regurgitation, Renal cyst, ... |
ORPHA:464306 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Retinal coloboma, Nephronophthisis, Stage 5 chronic kidney disease, Rod-con... |
OMIM:610188 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Prolonged QT interval, Abnormal EKG, Arrhythmia, Ketonuria |
ORPHA:480864 |
Meckel Syndrome, Type 6 |
|
Renal cyst |
OMIM:612284 |
Trisomy 20P |
|
Hypospadias, Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Multiple... |
ORPHA:261318 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias |
ORPHA:1692 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Mitral stenosis, Renal cyst |
OMIM:617260 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Restrictive cardiomyopathy,... |
ORPHA:369837 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydronephrosis, Renal dysplasia, Renal cyst, Micropenis, Distal urethral duplic... |
OMIM:146510 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Retinal dysplasia |
ORPHA:1190 |
Harrod Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2115 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Unilater... |
OMIM:156810 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia |
ORPHA:3301 |
Marden-Walker Syndrome |
|
Hypospadias, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abnormality of the urinar... |
ORPHA:2461 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Pollakisuria, Reduced ejection fraction, Right bundle branch block |
ORPHA:268 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Asplenia, Renal dysplasia, Multiple renal cysts, Hypoplasia of ... |
ORPHA:99776 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:308205 |
Steinert Myotonic Dystrophy |
|
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... |
ORPHA:273 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis |
ORPHA:1297 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma |
OMIM:617107 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Limb tremor, Hypotension |
OMIM:608643 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Multicystic kidney dysplasia |
ORPHA:261265 |
Transketolase Deficiency |
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Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
Genitopalatocardiac Syndrome |
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Hypospadias, Multicystic kidney dysplasia |
ORPHA:2075 |
Lymphangioleiomyomatosis |
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Optic atrophy, Hematuria, Gastrointestinal hemorrhage, Renal angiomyolipoma, Multiple renal cysts... |
ORPHA:538 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Chronic neutropenia, Renal malrotation, Retinal coloboma, Bifid ureter, Multicystic kidney dyspla... |
ORPHA:500095 |
Penile Agenesis |
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Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni... |
ORPHA:49 |
Radio-Renal Syndrome |
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Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3015 |
Focal Dermal Hypoplasia |
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Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Telangiectasia of the skin, Renal hypop... |
ORPHA:2092 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Renal cyst |
OMIM:615560 |
2Q37 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Trisomy 1Q |
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Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261344 |
Simpson-Golabi-Behmel Syndrome |
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Hypospadias, Ureteral duplication, Hydronephrosis, Prolonged QT interval, Hydroureter, Cardiomyop... |
ORPHA:373 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia, Retinal detachment, Telangiect... |
ORPHA:1556 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Hypospadias, Leukemia, Renal cyst, Micropenis, Nephroblastoma |
OMIM:257300 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response |
OMIM:272750 |
Mckusick-Kaufman Syndrome |
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Hydronephrosis, Urogenital sinus anomaly, Renal hypoplasia/aplasia, Multicystic kidney dysplasia,... |
ORPHA:2473 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Renal cyst, Systolic heart murmur |
OMIM:617478 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Tay-Sachs Disease |
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Tremor, Optic atrophy, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:845 |
Alagille Syndrome 1 |
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Renal hypoplasia, Focal segmental glomerulosclerosis, Pigmentary retinopathy, Renal tubular acido... |
OMIM:118450 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Renal hypoplasia, Renal cyst |
OMIM:616300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Multicystic kidney dysplasia, Megacystis, Hydroureter |
ORPHA:2241 |
Acrocephalopolydactylous Dysplasia |
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Cystic renal dysplasia, Polysplenia, Enlarged kidney |
OMIM:200995 |
Oculocerebrorenal Syndrome Of Lowe |
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Nephrocalcinosis, Hematuria, Chorioretinal dysplasia, Anemia, Nephrolithiasis, Proximal renal tub... |
ORPHA:534 |
Fryns Syndrome |
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Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux |
ORPHA:2059 |
Meckel Syndrome |
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Optic atrophy, Ureteral duplication, Pancreatic cysts, Asplenia, Urethral atresia, Accessory sple... |
ORPHA:564 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Exaggerated startle response |
OMIM:617527 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Microgastria-Limb Reduction Defect Syndrome |
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Horseshoe kidney, Abnormality of the spleen, Renal agenesis, Renal dysplasia, Renal hypoplasia/ap... |
ORPHA:2538 |
Cardiac Diverticulum |
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Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
Proximal 16P11.2 Microdeletion Syndrome |
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Multicystic kidney dysplasia |
ORPHA:261197 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Hypospadias, Optic atrophy, Renal cyst, Vesicoureteral reflux |
OMIM:616975 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Exaggerated startle response |
ORPHA:521426 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Renal cyst, Micropenis, Ureteropel... |
OMIM:270400 |
Orofaciodigital Syndrome Type 1 |
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Hypertension, Hydronephrosis, Pancreatic cysts, Tremor, Multicystic kidney dysplasia, Proteinuria... |
ORPHA:2750 |
Beckwith-Wiedemann Syndrome |
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Hypertrophic cardiomyopathy, Ureteral duplication, Choroideremia, Polycythemia, Congenital megaur... |
ORPHA:116 |
D-Bifunctional Protein Deficiency |
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Renal cyst, Splenomegaly |
OMIM:261515 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response |
ORPHA:438216 |
Cranioectodermal Dysplasia 2 |
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Hypertension, Polysplenia, Renal cyst, Splenomegaly, Renal insufficiency |
OMIM:613610 |
1P36 Deletion Syndrome |
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Dilated cardiomyopathy, Abnormality of the spleen, Hydronephrosis, Telangiectasia, Hypospadias, O... |
ORPHA:1606 |
Absence Of The Pulmonary Artery |
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Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
African Trypanosomiasis |
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Myocarditis, Third degree atrioventricular block, Pericarditis, Splenomegaly, Second degree atrio... |
ORPHA:3385 |
Schinzel-Giedion Syndrome |
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Hypospadias, Hydronephrosis, Abnormality of the ureter, Renal cyst, Nephrolithiasis, Micropenis, ... |
ORPHA:798 |
Proteus Syndrome |
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Abnormality of retinal pigmentation, Retinal nonattachment, Thymus hyperplasia, Chorioretinal col... |
ORPHA:744 |
Williams Syndrome |
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Cerebral ischemia, Hypercalciuria, Abnormality of the bladder, Hypertrophic cardiomyopathy, Hyper... |
ORPHA:904 |
Craniofacial Microsomia |
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Renal agenesis, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral ... |
OMIM:164210 |
Fryns Syndrome |
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Hypospadias, Ureteral duplication, Renal agenesis, Hydronephrosis, Renal cyst, Polysplenia |
OMIM:229850 |
Jacobsen Syndrome |
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Thrombocytopenia, Hydronephrosis, Aortic valve stenosis, Multicystic kidney dysplasia |
ORPHA:2308 |
Spondylocarpotarsal Synostosis Syndrome |
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Abnormality of retinal pigmentation, Renal cyst |
OMIM:272460 |
Mosaic Variegated Aneuploidy Syndrome |
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Aortic regurgitation, Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Nephroblastoma |
ORPHA:1052 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Hypospadias, Hydronephrosis, Renal agenesis, Chordee, Pelvic kidney, Exaggerated startle response... |
OMIM:619522 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Optic atrophy, Hydronephrosis, Abnormal localization of kidney, Multicystic kidney d... |
ORPHA:818 |
Cerebrocostomandibular Syndrome |
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Horseshoe kidney, Ectopic kidney, Renal cyst |
OMIM:117650 |
Hajdu-Cheney Syndrome |
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Hypospadias, Renal cyst |
OMIM:102500 |
Short-Rib Thoracic Dysplasia 12 |
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Cystic renal dysplasia, Renal hypoplasia, Splenomegaly |
OMIM:269860 |
Attenuated Familial Adenomatous Polyposis |
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Multiple renal cysts |
ORPHA:220460 |
Hajdu-Cheney Syndrome |
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Hypospadias, Mitral stenosis, Splenomegaly, Multiple renal cysts, Aortic valve stenosis |
ORPHA:955 |
Townes-Brocks Syndrome 1 |
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Hypospadias, Renal hypoplasia, Urethral valve, Chorioretinal coloboma, Renal dysplasia, Multicyst... |
OMIM:107480 |
Friedreich Ataxia And Congenital Glaucoma |
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Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... |
OMIM:229310 |
Cerebrocostomandibular Syndrome |
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Meningocele, Multicystic kidney dysplasia, Myelomeningocele |
ORPHA:1393 |
Tetrasomy 9P |
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Horseshoe kidney, Hydronephrosis, Pericarditis, Renal dysplasia, Pulmonary arterial hypertension,... |
ORPHA:3310 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hydronephrosis, Optic disc pallor, Anemia, Exaggerated startle response, Nephrolithiasis, Pulmoni... |
ORPHA:438213 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hypospadias, Hydronephrosis, Renal cyst, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplica... |
OMIM:312870 |
Friedreich Ataxia 2 |
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Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... |
OMIM:601992 |
Robinow Syndrome |
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Hydronephrosis, Pulmonic stenosis, Multicystic kidney dysplasia, Micropenis, Webbed penis |
ORPHA:97360 |
Osteopathia Striata With Cranial Sclerosis |
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Multicystic kidney dysplasia |
OMIM:300373 |
Townes-Brocks Syndrome |
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Hypospadias, Renal hypoplasia, Urethral valve, Chorioretinal coloboma, Multiple renal cysts, Vesi... |
ORPHA:857 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Renal hypoplasia, Micropenis, Renal cyst |
OMIM:210710 |
Trisomy 10P |
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Abnormality of the kidney, Multiple renal cysts |
ORPHA:171929 |
Autosomal Recessive Robinow Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis |
ORPHA:1507 |
Distal Monosomy 15Q |
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Hypospadias, Abnormal localization of kidney, Mitral stenosis, Multicystic kidney dysplasia, Micr... |
ORPHA:1596 |
Peters Plus Syndrome |
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Hypospadias, Optic atrophy, Ureteral duplication, Hydronephrosis, Renal duplication, Pulmonic ste... |
ORPHA:709 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
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Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... |
OMIM:302900 |
Fraser Syndrome |
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Hypospadias, Renal hypoplasia, Myelomeningocele, Urethral atresia, Multicystic kidney dysplasia, ... |
ORPHA:2052 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Renal hypoplasia, Hydronephrosis, Urethrovaginal fistula, Renal cyst, Hypoplasia of penis |
ORPHA:93271 |
C Syndrome |
|
Horseshoe kidney, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:1308 |
Branchiooculofacial Syndrome |
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Hypospadias, Renal agenesis, Renal cyst, Retinal coloboma |
OMIM:113620 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hypospadias, Optic atrophy, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, W... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hypospadias, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, Renal duplicatio... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Hypospadias, Hydronephrosis, Asplenia, Retinal coloboma, Chordee, Pelvic kidney, Renal duplicatio... |
ORPHA:2152 |
Cornelia De Lange Syndrome |
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Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypoplasia of penis, Renal insu... |
ORPHA:199 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Micropenis, Hydronephrosis |
OMIM:606170 |
Pmm2-Cdg |
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Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Photoreceptor layer loss on m... |
ORPHA:79318 |
Pallister-Killian Syndrome |
|
Hypertrophic cardiomyopathy, Hypospadias, Renal dysplasia, Renal cyst, Aortic valve stenosis |
OMIM:601803 |