| Choanal Atresia And Lymphedema |
|
High palate, Lymphedema, Choanal atresia, Pericardial effusion |
OMIM:613611 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... |
OMIM:115197 |
| Nephrosialidosis |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Ascites, Pericardial effusion |
OMIM:256150 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Wide mouth, Hepatomegaly, Depressed nasal bridge, Hepatosplen... |
OMIM:608776 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Wide mouth, Micropenis, Long philtrum, Wide nasal bridge, Perianal abscess, Cryptorchidism, Thin ... |
OMIM:614684 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... |
OMIM:239850 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... |
ORPHA:1041 |
| Craniofaciofrontodigital Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Pyloric stenosis, Gastrointestinal hemorrhage,... |
ORPHA:363705 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Depressed nasal bridge, Delayed eruption of teeth, Ventricular... |
OMIM:235510 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Recurrent sinopu... |
ORPHA:244 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micropenis, Depressed nasal bridge, Anterior hypopituitarism, Short ... |
OMIM:241800 |
| Pai Syndrome |
|
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... |
ORPHA:1993 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven... |
ORPHA:26793 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Nasal congestion, Bronchiectasis, Absen... |
OMIM:616037 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hematuria, Abnormal pulmonary interstitial morphology, Bil... |
ORPHA:77259 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Short stature, Thin vermil... |
OMIM:619110 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Alg9-Cdg |
|
Wide mouth, Hepatomegaly, Depressed nasal bridge, Short neck, Hepatic cysts, Ventricular septal d... |
ORPHA:79328 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Hydrocephalus, Micropenis, Depressed nasal bridge, Camptodactyly, Short nose, Arthro... |
OMIM:617822 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Proteinuria, Pericarditis, Intrauterine growth retardation, Stage 5 chronic kidney ... |
OMIM:619487 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, High, narrow palate, Cryptorchidism, Micropenis, Short stature, Hypospadias, Bifid u... |
ORPHA:2872 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... |
ORPHA:2869 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Malabsorption, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Short stature, Unilateral rena... |
OMIM:608572 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Oligohydramnios, Hydrops fe... |
ORPHA:99776 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Emphysema, Splenomegaly, Hematuria, Angioedema, Proteinuria, Pleural effusion, Rena... |
ORPHA:36412 |
| Temple Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Short stature, Depressed nasal bri... |
OMIM:616222 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft, Ectopic kidney, Abnormal heart morphology |
OMIM:239800 |
| Triopia |
|
Polyhydramnios, Encephalocele, Midline facial cleft |
ORPHA:3374 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Facial cleft, Anterior encephalocele |
OMIM:601357 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Polyvalvular Heart Disease Syndrome |
|
High palate, Dental crowding, Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulm... |
ORPHA:228410 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Rh... |
OMIM:615444 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Intrauterine... |
OMIM:618775 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Rhinitis, Absent... |
OMIM:614935 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypo... |
OMIM:619003 |
| Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Retic... |
ORPHA:79126 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tachycardia, He... |
OMIM:618280 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Recurrent pneu... |
OMIM:608647 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Wide mouth, Hepatomegaly, Flexion contracture, Hypertrophic ... |
ORPHA:1194 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Malabsorption, Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Pericardia... |
ORPHA:92 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis, Absent inner and outer dynein arms, Nasal p... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Chronic rhinitis, Bronchiectasis, Nasal polyposis, Recurrent respiratory ... |
OMIM:617092 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Situs inversus to... |
OMIM:613808 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Nasal polyposis, Bifid uvula, Median cleft lip |
OMIM:155145 |
| Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Hydrops fetalis, Myocarditis, Cholestasis, Hypotension, Polyhydramnios, Hepatiti... |
ORPHA:292 |
| Lipoid Proteinosis |
|
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... |
ORPHA:530 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin vermilion border, Short neck, Bifid ... |
OMIM:612938 |
| Tonne-Kalscheuer Syndrome |
|
Narrow mouth, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Short st... |
OMIM:300978 |
| Nathalie Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2663 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Depressed nasal bridge, Nonim... |
OMIM:212065 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Disproportionate short-limb short stature, Nephronophthisis, Hypospadia... |
ORPHA:1505 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Left ventricular hypertrophy, Abnormal renal c... |
OMIM:616733 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Depressed nasal bridge, Short philtrum, Delayed eruption of te... |
ORPHA:2136 |
| Q Fever |
|
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... |
ORPHA:781 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... |
OMIM:614921 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Micropenis, Cleft palate, Hypospadias, Hydrops fetalis, Short neck, Wide nas... |
OMIM:616897 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hydrops fetal... |
ORPHA:77261 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cystic renal dysplasia, ... |
OMIM:615415 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Hematuria, Prolonged QTc interval |
ORPHA:231111 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Hypertension, Oligohydramnios, I... |
OMIM:617021 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... |
ORPHA:263297 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Nephritis, Raynaud phenomenon, Myositis, Hematuria, Proteinuria, ... |
ORPHA:93552 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epidural hemorrhage, Multiple renal... |
ORPHA:464329 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Right ventricular failure, Elevated ... |
ORPHA:199241 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... |
OMIM:619313 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Anos... |
OMIM:244400 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge |
OMIM:613456 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Aymé-Gripp Syndrome |
|
Narrow mouth, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Short stature, Crypto... |
ORPHA:1272 |
| Oculomaxillofacial Dysostosis |
|
Facial cleft, Wide nasal bridge, Short stature |
ORPHA:1794 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Pneumothorax, Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Acrofacial Dysostosis, Catania Type |
|
Short stature, Hypospadias, Spina bifida occulta, Short nose, Facial cleft, Intrauterine growth r... |
ORPHA:1786 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Persistent fetal circulation, Hydrocephalus, Atrial septal defect, High, narrow pala... |
OMIM:612863 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Depressed nasa... |
OMIM:312150 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Short neck, Neonatal death, Ureteral agenesis, Hydranencephaly, Renal cyst, Renal h... |
OMIM:236500 |
| Facial Clefting, Oblique, 1 |
|
Facial cleft |
OMIM:600251 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Pro... |
ORPHA:57777 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Delayed eruption of teeth,... |
ORPHA:96170 |
| Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Arrhythmia, Renal insufficiency, Proteinuria, Hypertension, Hypertrophic cardiomyo... |
ORPHA:225 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Pro... |
ORPHA:3033 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormal penis morphology, Hypospadias, Malro... |
ORPHA:139466 |
| Marden-Walker Syndrome |
|
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Micropenis, High, narrow ... |
OMIM:248700 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Hepatomegaly, Subdural hemorrhage, Hepatic failure, Hemothorax, Hematuria... |
ORPHA:99827 |
| Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Nephrotic syndrome, Hepatomegaly, Hematemesis, Hypertrophic card... |
OMIM:615846 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Pleural effusion, Edema, Generalized edema, Gro... |
ORPHA:90362 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short nose, Facial cleft, Short stature |
ORPHA:1791 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... |
ORPHA:1335 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Stomatitis, Pleural effusion, Pericardial effusion |
OMIM:613011 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares |
OMIM:615942 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... |
ORPHA:99105 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Mitral regurgitation, Bifid uvula, Tetralogy... |
OMIM:612561 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Alg3-Cdg |
|
High palate, Decreased liver function, Macroglossia, Neural tube defect, Abnormality of the nose,... |
ORPHA:79321 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
| Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfu... |
ORPHA:330001 |
| Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Recurrent bronchopulmonary ... |
OMIM:219700 |
| Al Amyloidosis |
|
Hepatomegaly, Proteinuria, Postural hypotension with compensatory tachycardia, Gastrointestinal h... |
ORPHA:85443 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Broad nasal tip, Hypoplastic left atrium, Ventricular septal def... |
OMIM:615524 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Bulbous nose, Cleft palate, Dysplastic pulmonary valve, Bifid uvula, Anteverted ... |
OMIM:300958 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Andersen-Tawil Syndrome |
|
High palate, Bulbous nose, Abnormality of the dentition, Bidirectional ventricular ectopy, Prolon... |
ORPHA:37553 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Short statu... |
OMIM:617660 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, High palate, Narrow palate, Overriding aorta, Hypoplasia of the thymus, Hydrops feta... |
OMIM:617022 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Depressed nasal ridge, Polyhydr... |
OMIM:253290 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Hematochezia, Polyhydramnios, Protein-losing enteropathy, Anasarca, Pleural effusion, C... |
OMIM:618183 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... |
ORPHA:75249 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, S... |
OMIM:612530 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
| Anencephaly 2 |
|
Median cleft palate, Anencephaly, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Hepatic calcification... |
ORPHA:73224 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... |
ORPHA:2847 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Convex nasal ridge, Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Sh... |
OMIM:263210 |
| Myhre Syndrome |
|
Narrow mouth, Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft ... |
OMIM:139210 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Nasal polyposis, Multiple gastric polyps, Intussus... |
OMIM:175200 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Arrhythmia, Camptodactyly |
OMIM:618453 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia |
OMIM:614096 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, Short stature, Broad nasal tip,... |
ORPHA:250999 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
| Minicore Myopathy With External Ophthalmoplegia |
|
High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:255320 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Gingival overgrowth, Flexion contracture, Broad nasal tip, Bifid uvula, Wide nasal b... |
OMIM:618658 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Cryptorchi... |
ORPHA:536532 |
| Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... |
OMIM:615518 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
| Cerebrooculonasal Syndrome |
|
Facial cleft, Hypoplasia of penis |
ORPHA:66625 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Atrial septal defect, Hypodontia, Cleft palate, Postnatal growth retardation, Hy... |
OMIM:619184 |
| Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Ventricular septal defect, Esophag... |
OMIM:301068 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... |
ORPHA:2712 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthro... |
OMIM:617468 |
| Agnathia-Otocephaly Complex |
|
Narrow mouth, Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Situs inversus tota... |
OMIM:202650 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Enuresis, Bifid uvula |
OMIM:300850 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Emphysema, Bronchiectasis, Nasal polyposis |
OMIM:604571 |
| 19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Hypodontia, Cleft palate, Thin vermilion b... |
ORPHA:254346 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... |
ORPHA:422 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Splenomegaly, Hypercal... |
OMIM:181000 |
| Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Abnormal pleura morphology, Enlarged lacrimal glands, Enlargement ... |
ORPHA:797 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Arthrogrypo... |
OMIM:616531 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... |
OMIM:602390 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Depressed nasal bridge, Wide na... |
OMIM:618316 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, High palate, Narrow mouth, Left ventricular hypertrophy, Facial... |
ORPHA:169186 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Intestinal malrotation, Depressed nasal bridge, Abnormal nasal morphology, Long phi... |
ORPHA:404440 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Growth delay, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula... |
ORPHA:576283 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Hydronephrosis |
ORPHA:2669 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Short neck, Ventricular septal defect, Umbi... |
OMIM:601808 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Narrow mouth, Muscle fiber atrophy, Secundum atrial septal defect, Flexion contractu... |
OMIM:616866 |
| Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Chronic rhinitis, Pneumonia, Bronchiectasis, Nasal polyposis |
OMIM:618695 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Anteverte... |
OMIM:616258 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Hypertension,... |
ORPHA:563 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Short philtrum, Anencephaly, Delayed eruption of teeth, Advanced eruption of teeth, ... |
OMIM:619148 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Truncus arteriosus |
OMIM:274210 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, ... |
OMIM:235200 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Short stature, Depressed nasal bridge, Short philtrum, B... |
ORPHA:96184 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Propionic Acidemia |
|
Organic aciduria, Hepatomegaly, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
| Cleft Velum |
|
Aspiration pneumonia, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Short stature, Short neck, Arrhythmia, Microdontia, Bilia... |
ORPHA:3191 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy |
ORPHA:104 |
| Gitelman Syndrome |
|
Proteinuria, Renal potassium wasting, Prolonged QT interval, Renal tubular acidosis, Abnormal T-w... |
ORPHA:358 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Thin vermilion border, Depressed nasal bridge, Short philtrum, Short neck, Birth le... |
OMIM:618622 |
| Trichohepatoenteric Syndrome 1 |
|
Wide mouth, Hepatomegaly, Depressed nasal ridge, Hepatic failure, Cholestasis, Abnormality of the... |
OMIM:222470 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Joint contracture of the hand, Hypodontia, Short stature, Depre... |
OMIM:612350 |
| Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Hydrocephalus, Congenital megaureter, Tracheoesophageal fistula, U... |
ORPHA:2437 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Thin vermilion border, Camptodactyly of finger, Abnormal lung lobation, Pulmonary h... |
ORPHA:2631 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Cleft palate, Hypospadias, Bilateral lung agenesis, Ventricular ... |
OMIM:611812 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Pleural effusion, Edema, Pulmonary arterial hypert... |
ORPHA:2905 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect... |
OMIM:269860 |
| Meckel Syndrome, Type 10 |
|
Cleft palate, Micropenis, Hypospadias, Anencephaly, Malformation of the hepatic ductal plate, Bif... |
OMIM:614175 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Atrioventricular ... |
ORPHA:1677 |
| Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... |
OMIM:611705 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Moderately short stature, Bifid uvula, Cleft palate |
ORPHA:506353 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Atrioventricular block, Hepatomegaly, Splenomegaly, Hepatic failure, Arrhythmia, E... |
ORPHA:398124 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... |
ORPHA:75565 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphr... |
ORPHA:2257 |
| Naxos Disease |
|
Cleft upper lip, Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyop... |
ORPHA:34217 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hydrocephalus, Chylopericardium, Chylothorax, Renal angiomyolipoma, Hemat... |
ORPHA:538 |
| Congenital Hypothyroidism |
|
Nephrolithiasis, Macroglossia, Abnormal pericardium morphology, Short stature, Tracheoesophageal ... |
ORPHA:442 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Arrhythmia, Cardiomegaly, Cardiomyopathy, Atrioventricula... |
ORPHA:85447 |
| Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Short neck, Tented upp... |
ORPHA:2059 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Nephrotic syndrome, Bifid uvula |
OMIM:256200 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... |
ORPHA:99103 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micropenis,... |
OMIM:616331 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal mitral valve morphology, Atrioventricular canal defect, Aplasia/Hypoplasia of the abdomi... |
ORPHA:500 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... |
ORPHA:363444 |
| Diaphanospondylodysostosis |
|
Cleft palate, Depressed nasal ridge, Abnormal liver lobulation, Depressed nasal bridge, Short nec... |
OMIM:608022 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Depressed nasal b... |
ORPHA:2655 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Noonan Syndrome 5 |
|
Wide mouth, Atrial septal defect, Cryptorchidism, Short stature, Pulmonic stenosis, Depressed nas... |
OMIM:611553 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Bulbous nose, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:608836 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Limb hypertonia, Organic aciduria, Spina bifida, Cleft soft palate |
ORPHA:99742 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Cleft palate, Depressed nasal bridge, Camptodactyly of finger, Polyh... |
ORPHA:994 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... |
OMIM:242680 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Cleft palate, Atrioventricular canal defect, Ventricular septal defect, Furrowed ton... |
ORPHA:453499 |
| Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Bulbous nose, Hepatomegaly, Hypodontia, Macroglossia, Splenomegaly, Clef... |
ORPHA:3473 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Arrhythmia, Hepatic steatosis, Cardiomyopathy |
OMIM:606069 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Short stat... |
OMIM:129400 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| 3Mc Syndrome 3 |
|
Short stature, Micropenis, Penoscrotal hypospadias, Horseshoe kidney, Facial cleft, Growth delay |
OMIM:248340 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Ogden Syndrome |
|
Torticollis, High, narrow palate, Pulmonary artery stenosis, Cryptorchidism, Arrhythmia, Cardioge... |
ORPHA:276432 |
| Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Bladder exstrophy, Ectopia cordis |
OMIM:217100 |
| Chédiak-Higashi Syndrome |
|
Decreased liver function, Periodontitis, Splenomegaly, Hepatosplenomegaly, Epistaxis, Elevated he... |
ORPHA:167 |
| Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Pierre-... |
OMIM:604841 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Anteverted nares |
OMIM:613124 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:3099 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short stature, Hypospadias, Short uvula, Hydrops fetalis, Agenesis of ... |
OMIM:614091 |
| Benign Schwannoma |
|
Abnormal esophagus morphology, Intestinal polyposis, Facial palsy, Abnormal parotid gland morphol... |
ORPHA:252164 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Short stature, Glossoptosis, Abnormality of the sense of smell, ... |
ORPHA:3201 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... |
ORPHA:732 |
| Buratti-Harel Syndrome |
|
High palate, Atrial septal defect, Velopharyngeal insufficiency, Hypospadias, Bifid uvula, Recurr... |
OMIM:619314 |
| Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Unilateral cryptorchidism, Bifid uvula, Tetr... |
OMIM:174300 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Bifid uvula, Cleft palate |
OMIM:618768 |
| Trisomy 8P |
|
Multiple joint contractures, Hydrocephalus, Cleft palate, Depressed nasal bridge, Malrotation of ... |
ORPHA:264450 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbladder, Ren... |
OMIM:612284 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Facial cleft, Hydrops fetalis, Ectopic kidney |
ORPHA:268249 |
| Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Granulomatous coronary arteritis, Pleural effusion, Hypertension, Jaundice, Pericardial effusion |
OMIM:108050 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Aminoaciduria, Short stature, Arrhythmia, Ventricular septal defect, Situs ... |
OMIM:249270 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Severe short stature, Cleft soft palate, Disproportionate short-trunk short stature |
ORPHA:93316 |
| Loeys-Dietz Syndrome 5 |
|
High palate, Atrial septal defect, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the ... |
OMIM:615582 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Elevated... |
ORPHA:156 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Tetrasomy 5P |
|
High palate, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, Lon... |
ORPHA:3309 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Hydrocephalus, Severe short stature, Cryptorchidism, Cleft palate, Flexion contract... |
ORPHA:1865 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Cleft palate, Short stature, Thin vermilion border, Intestinal malr... |
OMIM:614701 |
| Hydrolethalus |
|
Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Gingival cleft, Anencephaly, Bifi... |
ORPHA:2189 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Pedal edema, Reduced left ventricular ... |
ORPHA:980 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Bulbous nose, Cleft palate, Ventricular septal defect, Tented upper lip vermilion, I... |
OMIM:608670 |
| Gaucher Disease, Perinatal Lethal |
|
Narrow mouth, Hepatomegaly, Hepatic failure, Splenomegaly, Everted lower lip vermilion, Hepatospl... |
OMIM:608013 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Bulbous nose, Dysplastic pulmonary valve, Hypospadias, Depressed nasal bridge, Ventri... |
OMIM:619103 |
| Ogden Syndrome |
|
High palate, Hydrocele testis, Abnormality of the dentition, Short philtrum, Short neck, Depresse... |
OMIM:300855 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... |
OMIM:608149 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... |
OMIM:619227 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Myoglob... |
ORPHA:228308 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Arrhythmia |
OMIM:310095 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Micropenis, D... |
OMIM:616546 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic failure, Myoglobinuria, Arrhythmia, Red-brown urine, Rhabdomyolysis, Elevat... |
ORPHA:228305 |
| Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
| Mosaic Trisomy 1 |
|
Wide mouth, Renal cortical cysts, Congenital diaphragmatic hernia, Cleft palate, Micropenis, Depr... |
ORPHA:1692 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Arrhythmia, Myocarditis, Edema, Periorbital ed... |
ORPHA:3386 |
| Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, ... |
ORPHA:1790 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Myhre Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Intrauterine growth retardation, Severe short s... |
ORPHA:2588 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Spina bifida occulta, Mitral valve prolapse, Thin skin, Gastrointestinal hemorrhage, ... |
ORPHA:230839 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... |
OMIM:618779 |
| Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
| Distal Tetrasomy 15Q |
|
High palate, Hydrocele testis, Hydrocephalus, Atrial septal defect, Flexion contracture, Camptoda... |
ORPHA:314588 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... |
OMIM:192445 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ele... |
OMIM:212138 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Bulbous nose, Atrial septal defect, Cleft palate, Short stature, Abnormality of the... |
OMIM:300968 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... |
OMIM:301500 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Short stature, Camptodactyly of toe, Camptodactyly of finger, Short ne... |
OMIM:114300 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Intesti... |
ORPHA:85446 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Short stature, Short neck, Bifid uvula, Ventricular septal defect, Recurrent aspirat... |
OMIM:300472 |
| Hec Syndrome |
|
Arrhythmia, Communicating hydrocephalus, Endocardial fibroelastosis, Polyhydramnios, Vaginal hydr... |
ORPHA:2119 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Holoprosencephaly, Single ventricle, Mitral regurgitation, Short neck, A... |
OMIM:619879 |
| Dystonia 23 |
|
Torticollis, Arrhythmia |
OMIM:614860 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... |
ORPHA:261494 |
| Tetrasomy 9P |
|
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus,... |
ORPHA:3310 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Abnormality of the pituitary gland, Adrenocorticotropic hormone defi... |
ORPHA:91347 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Dk1-Cdg |
|
Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Elevated hepatic transaminase, Interstitial... |
ORPHA:91131 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompa... |
OMIM:619167 |
| Marden-Walker Syndrome |
|
Hydrocephalus, Cleft palate, Ventricular septal defect, Pyloric stenosis, Intrauterine growth ret... |
ORPHA:2461 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Atrial septal defect, Short stature, Depressed nasal bridge, Long philtrum, Ven... |
OMIM:145420 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Micropenis, Recurrent respiratory infections, Hypospadias, Short stature, Short neck, Submucous c... |
ORPHA:2282 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
| Desmosterolosis |
|
Narrow mouth, Anomalous pulmonary venous return, Hydrocephalus, Severe short stature, Cleft palat... |
ORPHA:35107 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Cleft palate, Severe short stature, Delayed eruption ... |
ORPHA:2780 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Narrow mouth, Atrial septal defect, Cleft palate, Micropenis, Short st... |
OMIM:617063 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum |
OMIM:614526 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Webbed neck, Cleft palate, Ventricular septal defect, Thick lower lip... |
OMIM:300373 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Congenital diaphragmatic hernia, Decreased glomerular filtration r... |
ORPHA:2260 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Bulbous nose, Joint contracture of the hand, Flexion contracture, Depressed nasal br... |
OMIM:601110 |
| Moebius Syndrome |
|
Facial diplegia, High palate, Micropenis, Abnormality of the dentition, Depressed nasal bridge, S... |
OMIM:157900 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Short stature, Arrhythmia, Furrowed tongue |
ORPHA:2928 |
| Bartsocas-Papas Syndrome 1 |
|
Micropenis, Short nose, Ectopic kidney, Patent foramen ovale, Facial cleft, Intrauterine growth r... |
OMIM:263650 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Bulbous nose, Prominent nasal tip, Abnormal preputium morphology, Short philtrum, Glandular hypos... |
ORPHA:293725 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic steatosis, Arrhythmia, Distal arthrogryposis, Ele... |
ORPHA:42 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... |
OMIM:609040 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Arrhythmia, Anosmia, Limb muscle weakness, Cardiomyopathy, Cardiomegal... |
OMIM:266500 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Hypospadias, Anenc... |
OMIM:313850 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Hypospadias, Long philtrum, Arrhythmia, Neonatal death... |
OMIM:614052 |
| Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Cleft palate, Broad nasal tip, Short neck, Carious teeth, Short nose, In... |
ORPHA:177907 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Short stature, Depressed nasal bridge, Short neck, Delayed eruption of teeth, Hyper... |
OMIM:300990 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Secundum atrial septal defect, Short philtrum, Long philtrum, Bifid uvula, Downt... |
OMIM:619121 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Short stature, Broad nasal tip, Rhizomelia, Cleft hard palate, Knee flexion contracture |
ORPHA:166016 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Hypotension, Oliguria, Pedal edema, Renal... |
ORPHA:188 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Disproportionate short-limb short stature, Narrow mouth, Neonatal death, Pulmonary hypoplasia, Cr... |
OMIM:224410 |
| Cardiofaciocutaneous Syndrome 1 |
|
High palate, Hydrocephalus, Bulbous nose, Abnormality of the dentition, Depressed nasal bridge, S... |
OMIM:115150 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Ethylmalonic aciduria, 3-Methylglutaric aciduria, Depress... |
ORPHA:26791 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated ca... |
ORPHA:352447 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Abnormal cardiac septum morphology, Anodontia, Narrow mouth, Hydrocephalus, Cle... |
ORPHA:90652 |
| Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short neck, Ventricular septal defect,... |
ORPHA:2162 |
| Frontonasal Dysplasia 2 |
|
Tessier number 13 facial cleft, Encephalocele, Oligohydramnios, Intrauterine growth retardation, ... |
OMIM:613451 |
| Temple Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Bifid uvula,... |
ORPHA:254516 |
| Cri-Du-Chat Syndrome |
|
Diastasis recti, High palate, Hypospadias, Short philtrum, Short neck, Anterior open-bite maloccl... |
OMIM:123450 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
High palate, Anal atresia, Hydrocele testis, Ureteral hypoplasia, Atrial septal defect, Congenita... |
OMIM:614080 |
| Atelosteogenesis, Type Ii |
|
Cleft palate, Depressed nasal bridge, Short neck, Pulmonary hypoplasia, Stillbirth |
OMIM:256050 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Intrauterine growth retardation, Abnormality of the tongue, Hypoplasia of penis, Cle... |
ORPHA:2990 |
| Genitopatellar Syndrome |
|
Hip contracture, Atrial septal defect, Short stature, Multicystic kidney dysplasia, Long philtrum... |
ORPHA:85201 |
| Legionnaires Disease |
|
Pancreatitis, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Arrhythmia, Hypotension, Abnorm... |
ORPHA:549 |
| Generalized Arterial Calcification Of Infancy |
|
Cortical nephrocalcinosis, Medullary nephrocalcinosis, Transient ischemic attack, Hypertension, H... |
ORPHA:51608 |
| Lymphedema-Distichiasis Syndrome |
|
