| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Encephalocele, Short neck, Short... |
OMIM:613885 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Choanal atresia, High palate, Lymphedema |
OMIM:613611 |
| Nephrosialidosis |
|
Nephropathy, Ascites, Renal insufficiency, Pericardial effusion, Nephrotic syndrome |
OMIM:256150 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmo... |
ORPHA:2414 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Wide nasal bridge, Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal abscess, Mic... |
OMIM:614684 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology |
ORPHA:48686 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... |
ORPHA:1041 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Polysplenia, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abn... |
ORPHA:244 |
| Cantu Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Long philtru... |
OMIM:239850 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial se... |
OMIM:235510 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Long philtrum, Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, Shor... |
OMIM:608776 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Congenital d... |
OMIM:615524 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Urinary incontinence, Carious teeth, Downturned corners of mouth, Multiple mus... |
OMIM:620070 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Nasal congestion, Situs inversus totalis, Chronic bronchitis, Ventricular septal... |
OMIM:616037 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Ventricular septal defect, Bilater... |
OMIM:601357 |
| Pai Syndrome |
|
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Encephalocele, ... |
ORPHA:1993 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin... |
ORPHA:26793 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal heart morphology, Ectopic kidney, Cleft palate, Tessier cleft |
OMIM:239800 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Nasal polyposis, Gastrointestinal hemorrhage, Abnormality of the nose, Pa... |
ORPHA:2869 |
| Unilateral Ocular Duplication |
|
Polyhydramnios, Midline facial cleft, Encephalocele, Cleft palate |
ORPHA:3374 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Webbed neck, Arthrogryposis multiplex congenita, Edema, Anteverted nares,... |
OMIM:617822 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Depressed nasal bridge, Dilated cardiomyopathy, Cleft lip, Ventricular bigeminy, Tricuspid regurg... |
OMIM:620519 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Ventricular septal defect, Short neck, Atrial septal defect, Torti... |
ORPHA:79328 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Pulmo... |
OMIM:619003 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Abnormal heart valve morphology, Ascites, Emphysema, Pleural effusion, Renal insuffic... |
ORPHA:36412 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Recurrent respiratory infections, Situs inversus totalis, Recurrent sinusitis, C... |
OMIM:615444 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... |
ORPHA:555874 |
| Mosaic Trisomy 9 |
|
Tessier cleft, Horseshoe kidney, Abnormal heart valve morphology, Intrauterine growth retardation... |
ORPHA:99776 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Nasal polyposis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal peri... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Fryns Microphthalmia Syndrome |
|
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate |
OMIM:600776 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hepatic steatosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insuffi... |
OMIM:619487 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Tonne-Kalscheuer Syndrome |
|
Wide nasal bridge, Hypospadias, Velopharyngeal insufficiency, Downturned corners of mouth, Widely... |
OMIM:300978 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Recurrent respiratory infections, Situs inversus totalis, Recurrent sinusitis, C... |
OMIM:614935 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Elevated urine acetoacetic acid level, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, Cardi... |
OMIM:620089 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... |
ORPHA:79126 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... |
OMIM:618280 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Tricuspid regurgitation,... |
ORPHA:228410 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Chronic r... |
OMIM:617092 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Webbed neck, Unilateral cleft lip, Hypertrophic cardiomyopathy, Ascites, Intra... |
OMIM:616897 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Recurrent pneumonia,... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 5 |
|
Nasal polyposis, Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic rhinit... |
OMIM:608647 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... |
OMIM:618775 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Recurr... |
OMIM:606763 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Left ventricular ... |
OMIM:616733 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Recurrent respiratory infections,... |
ORPHA:530 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Oligohydramnios, Abnormal biliary tract mor... |
ORPHA:3032 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft upper lip, Bifid uvula, High palate, Nasal polyposis |
OMIM:155145 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, B... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Atelectasis, Situs inversus totalis, Recurrent bronchitis, C... |
OMIM:244400 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa... |
ORPHA:1104 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Intr... |
ORPHA:1194 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... |
OMIM:620236 |
| Hennekam Syndrome |
|
Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney, Abnormal oral mucosa morphology, Lymphe... |
ORPHA:2136 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Short nose, Tetralo... |
OMIM:618316 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Pleural effu... |
ORPHA:292 |
| Nathalie Syndrome |
|
Short stature, Arrhythmia |
ORPHA:2663 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Depressed nasal bridge, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic tran... |
OMIM:212065 |
| Multiple Pterygium Syndrome, X-Linked |
|
Depressed nasal ridge, Edema, Cleft upper lip, Hypoplastic heart, Amyoplasia, Intrauterine growth... |
OMIM:312150 |
| Q Fever |
|
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnorm... |
ORPHA:781 |
| Frontonasal Dysplasia 3 |
|
Tessier cleft, Cleft palate, Wide nasal bridge |
OMIM:613456 |
| Oculomaxillofacial Dysostosis |
|
Short stature, Wide nasal bridge, Cleft palate, Tessier cleft |
ORPHA:1794 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Hypoplasia of ... |
OMIM:619313 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate |
OMIM:600251 |
| Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:846 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Oligohydramnios, Multiple renal cysts, Po... |
ORPHA:3033 |
| Frontofacionasal Dysplasia |
|
Tessier cleft, Encephalocele, Short nose, Short stature, Non-midline cleft of the upper lip, Clef... |
ORPHA:1791 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Intrauterine growth retardation, Cleft soft palate, Increased nuch... |
OMIM:620183 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Intrauterine growth retardation, Polyhydramnios, Distal arthrogryposis... |
OMIM:617194 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis |
ORPHA:411703 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... |
ORPHA:199241 |
| Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Fourth he... |
ORPHA:57777 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Ascites, Dark urine, Pleural effusion, Renal insufficiency, Oral ulcer, Myositis, Hema... |
ORPHA:93552 |
| Cystic Fibrosis |
|
Cor pulmonale, Nasal polyposis, Bronchiectasis, Recurrent pneumonia, Biliary cirrhosis, Exocrine ... |
OMIM:219700 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... |
ORPHA:263297 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Epidural hemorrhage, Subconjunctival hemorrhage, Hepatosplenomegaly, Pleural effusion,... |
ORPHA:464329 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Hematuria, Proteinuria... |
ORPHA:77261 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Oligohydramnios, Congenital d... |
ORPHA:139466 |
| Marden-Walker Syndrome |
|
High, narrow palate, Joint contracture of the hand, Renal hypoplasia, Congenital contracture, Pul... |
OMIM:248700 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intestinal malrotation, Narr... |
ORPHA:3426 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Hematuria, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... |
OMIM:616198 |
| Pentalogy Of Cantrell |
|
Hypospadias, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladde... |
ORPHA:1335 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Long philtrum, Anteriorly placed anus, Tricuspid regurgitation, Intrauterine... |
OMIM:612863 |
| Acrofacial Dysostosis, Catania Type |
|
Tessier cleft, Intrauterine growth retardation, Short stature, Spina bifida occulta, Hypospadias,... |
ORPHA:1786 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Crossed fused renal ec... |
ORPHA:2919 |
| Alg3-Cdg |
|
Abnormality of the nose, Cardiomyopathy, Decreased liver function, Macroglossia, High palate, Art... |
ORPHA:79321 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares... |
OMIM:618529 |
| Primary Intestinal Lymphangiectasia |
|
Generalized edema, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Pleural effusion, A... |
ORPHA:90362 |
| Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus total... |
OMIM:202650 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal hypoplasia, Ureteral agenesis, Bulbous nose, Anteverted nares, Oligohydram... |
OMIM:236500 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Ventricul... |
OMIM:301068 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Depressed nasal ridge, Edema, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Pol... |
OMIM:253290 |
| Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Long philtrum, Postnatal growth retardation, Breast hypoplasia, Narrow mo... |
ORPHA:1272 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Underdeveloped nasal alae, Abnormal lung lobation, Abnormal heart morphology... |
OMIM:263210 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Widely spaced teeth, Supernumerary nipp... |
OMIM:612530 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Microglossia, Occipital encephalocele, Median cleft upper lip, Micropenis... |
OMIM:241800 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Abnormal pulmonary interstitial morphology, Congestive heart ... |
ORPHA:330001 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec... |
OMIM:616866 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Depressed nasal bridge, Left ventricular noncompa... |
OMIM:617228 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Congenital diaphragmatic hern... |
ORPHA:250999 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Dental crowding, Stillbirth, Elbow flexion contracture, Knee flexion c... |
OMIM:617468 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Postnatal growth retardation, Tr... |
ORPHA:75249 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, ... |
OMIM:615846 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Splenomegaly, Hepatomegaly, Pericardial effusion, Stomatitis |
OMIM:613011 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... |
ORPHA:2847 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Anasarca,... |
OMIM:618183 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Long philtrum, Anteverted nares, Anterior open-bite malocclusion, Thin upper lip... |
OMIM:617877 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, Ethmoidal encephalocele, Cleft palate |
OMIM:607597 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Bifid nasal tip, Peripheral pulmonary artery ste... |
ORPHA:2712 |
| Supernumerary Nostril |
|
Tessier cleft |
ORPHA:141096 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Retinal hemorrhage, Hematuria, Hepatomegaly, Tachycardia, Jaundice, Diffuse al... |
ORPHA:99827 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Neonatal death, Atria... |
OMIM:601186 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Ventricular septal defect, Neonatal death, Short neck, Hepatomegaly, Holoprosencepha... |
OMIM:269860 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Bifid uvula, Spinal dysraphism, Renal hypoplasia, ... |
OMIM:617660 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent sin... |
OMIM:615518 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Intrauterine growth... |
OMIM:617022 |
| Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... |
ORPHA:85443 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Arthrogryposis mult... |
OMIM:616531 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... |
ORPHA:2257 |
| Andersen-Tawil Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectional ventricula... |
ORPHA:37553 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Dental crowding, Long ... |
OMIM:616331 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Nasal polyposis, Bile duct polyp, Abnormality of the ureter, Labial melanoti... |
OMIM:175200 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Congenital pulmonary airway malformation, Intrauterine growth retardation, Oligohydram... |
OMIM:611812 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Hydranencephaly, Unilateral renal agenesis, Underdeveloped nasal alae, Truncus arter... |
OMIM:601355 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis |
OMIM:618695 |
| Sarcoidosis |
|
Abnormal pleura morphology, Arrhythmia, Abnormal nasal mucosa morphology, Tubulointerstitial neph... |
ORPHA:797 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... |
ORPHA:45453 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Mild short stature |
ORPHA:952 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Open mouth, Encephalocele, Irregular dentition, Cryptorchidism, Small thenar eminence, Anal atres... |
OMIM:619148 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Transpo... |
OMIM:314390 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ureteral agenesis, Hydronephrosis, Hypoplastic nipples, Tracheoesophageal fistu... |
ORPHA:2437 |
| Orofaciodigital Syndrome Xix |
|
Wide nasal bridge, Narrow palate, Bifid nasal tip, Carious teeth, Downturned corners of mouth, Lo... |
OMIM:620107 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Camptodactyly of finger, Thin vermilion border, Cleft palate, Pulmonary h... |
ORPHA:2631 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... |
ORPHA:73224 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cleft lip, Skeletal muscle hypertrophy, Intrauterine growth retardation, P... |
OMIM:139210 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... |
ORPHA:422 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Emphysema, Pleural effusion, Splen... |
OMIM:181000 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Hypoplasia of penis |
ORPHA:66625 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Abnormal urinary colo... |
ORPHA:538 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Arrhythmia, Camptodactyly |
OMIM:618453 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Tooth malposition, Narrow palate, Webbed neck, Periodontitis, Umbilical hernia, Cryptorchidism, M... |
ORPHA:536532 |
| Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Decreased muscle mass, Overhanging nasal tip, Cleft soft palate, Tented upper lip ve... |
OMIM:615582 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Cryptorchidism, Short neck, Anal a... |
ORPHA:2059 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Tubulointerstitial fibrosis, Hepatomegaly, Polycystic kidney dysplasia, Esophagea... |
OMIM:263200 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Ascites, Pleural effusion, Splenomegaly, Hepatomeg... |
ORPHA:2905 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hypospadias, Long philtrum, Intrauterine growth retardation, Narrow nasal b... |
ORPHA:254346 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Misalignment of incisors, Postnatal growth retardation, Intrauterine growth reta... |
OMIM:619184 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Webbed neck, Horseshoe kidney, Intrauterine growth... |
OMIM:608022 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Thanatophoric Dysplasia |
|
Depressed nasal bridge, Disproportionate short-limb short stature, Intrauterine growth retardatio... |
ORPHA:2655 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:613124 |
| Fetal Akinesia Deformation Sequence |
|
Depressed nasal bridge, Pulmonary hypoplasia, Camptodactyly of finger, Intrauterine growth retard... |
ORPHA:994 |
| Constricting Bands, Congenital |
|
Tessier cleft, Encephalocele, Ectopia cordis, Bladder exstrophy, Cleft palate |
OMIM:217100 |
| Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Organic aciduria, Cardiomyopathy |
ORPHA:35 |
| Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... |
OMIM:235200 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... |
OMIM:602390 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Hepatic fibrosis, Short uvula, Ascites, Agenesis of permanent teet... |
OMIM:614091 |
| Acromelic Frontonasal Dysostosis |
|
Wide nasal bridge, Encephalocele, Submucous cleft soft palate, Midline facial cleft, Cleft palate |
OMIM:603671 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... |
OMIM:540000 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm, Ventricular septal defect, Atrial... |
ORPHA:185 |
| Tetrasomy 5P |
|
Wide nasal bridge, Long philtrum, Recurrent respiratory infections, Congestive heart failure, Pos... |
ORPHA:3309 |
| 3Mc Syndrome 3 |
|
Tessier cleft, Horseshoe kidney, Penoscrotal hypospadias, Micropenis, Short stature, Growth delay... |
OMIM:248340 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Wide nasal bridge, Abnormal heart morphology, Narrow mouth, Encephalocele, ... |
ORPHA:1865 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal tip, Cleft soft palate, Prominen... |
ORPHA:293725 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... |
ORPHA:99103 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Camptodactyly of finger, Submucous cleft hard palate, Abnormality of the sen... |
ORPHA:3201 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Ventricular septal defect, Orofacial cleft, Hydrops fetalis, Ectopic kidney |
ORPHA:268249 |
| Ogden Syndrome |
|
Flared nostrils, Everted upper lip vermilion, Thick upper lip vermilion, Postnatal growth retarda... |
OMIM:300855 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephritis, Ventricu... |
ORPHA:358 |
| Nephronophthisis 2 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Oligohydramnios, Situs inversus totalis, Absenc... |
OMIM:602088 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Natal tooth, Dental crowding, Long philtrum, Anteverte... |
OMIM:145420 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Microdontia, Biliary tract abnormality, Membranous subvalvular aortic stenosis,... |
ORPHA:3191 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate... |
OMIM:618779 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... |
ORPHA:66529 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation |
ORPHA:104 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Pedal edem... |
ORPHA:980 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Hepatic failure, Everted upper lip vermilion, Ascites, Intrauterine growt... |
OMIM:608013 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Wide nasal bridge, Intrauterine growth retardation, Cleft soft palate, Anteverted nares, Cryptorc... |
ORPHA:2282 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Horseshoe kidney, Absent gallbladder,... |
OMIM:612284 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... |
ORPHA:1677 |
| Attrv30M Amyloidosis |
|
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
| Benign Schwannoma |
|
Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, F... |
ORPHA:252164 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Intestinal m... |
OMIM:614701 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Webbed neck, Unilateral renal agenesis, Muscular ventricular septal defect, Subm... |
OMIM:619227 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Everted lower lip vermilion, High pa... |
OMIM:608670 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly... |
OMIM:192445 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Long philtrum, Anteverted nares, Diastasis recti, Splenomegaly, Ventricul... |
OMIM:608149 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect, Facial hypotonia |
OMIM:614526 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Depressed nasal bridge, Hypospadias, Unilateral cleft lip, Thick lower lip vermilion, Horseshoe k... |
OMIM:619103 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra... |
ORPHA:398124 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Distal Triplication 15Q |
|
Abnormal heart morphology, Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Atr... |
ORPHA:314588 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Naxos Disease |
|
Cleft upper lip, Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tac... |
ORPHA:34217 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
| Ogden Syndrome |
|
High, narrow palate, Cardiogenic shock, Everted upper lip vermilion, Underdeveloped nasal alae, E... |
ORPHA:276432 |
| Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Arrhythmia, Hypospadias,... |
ORPHA:500 |
| Mosaic Trisomy 1 |
|
Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Elbow flexion contracture, Th... |
ORPHA:1692 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Pulmonary hypoplasia, Hamartoma of tongue, Occipital meningocele, Congeni... |
OMIM:616546 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Buratti-Harel Syndrome |
|
Bifid uvula, Recurrent pneumonia, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft h... |
OMIM:619314 |
| Noonan Syndrome 5 |
|
Depressed nasal bridge, Webbed neck, Hypertrophic cardiomyopathy, Polyhydramnios, Cryptorchidism,... |
OMIM:611553 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Retinal hemorrhage, Oral ulcer, Localized p... |
OMIM:608710 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Oligohydram... |
OMIM:619879 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Orofacial cleft |
ORPHA:1647 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Short neck, Hepatomegaly, H... |
OMIM:620369 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... |
OMIM:608836 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Elbo... |
OMIM:117650 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Amish Lethal Microcephaly |
|
Organic aciduria, Cleft soft palate, Limb hypertonia, Spina bifida, Hepatomegaly |
ORPHA:99742 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Elevated circulating hepatic transaminase concentration, Periodonti... |
ORPHA:167 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatomegaly |
OMIM:606069 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Disproportionate short stature, Tetralogy ... |
OMIM:222765 |
| Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal pleura morphology, Abnormal aortic valve mor... |
ORPHA:3099 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Cleft upper lip, Congenital diaphragmatic hernia, Transposition of the great arterie... |
OMIM:313850 |
| Myhre Syndrome |
|
Severe short stature, Bifid uvula, Gingival cleft, Abnormal penis morphology, Unilateral cleft li... |
ORPHA:2588 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,... |
OMIM:249270 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Secundum atrial septal defect, Branchial cyst, Bilateral renal hypopla... |
ORPHA:2260 |
| Hydrolethalus |
|
Bifid uvula, Gingival cleft, Unilateral cleft lip, Cryptorchidism, Submucous cleft hard palate, A... |
ORPHA:2189 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anal stenosis, Long philtrum, Short nose, Anteverted nares, Open mouth, C... |
OMIM:614080 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Underdeveloped nasal alae, Umbilical hernia, Tetralogy of Fallot, B... |
OMIM:192430 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Meier-Gorlin Syndrome 7 |
|
Narrow mouth, Cryptorchidism, Ventricular septal defect, Urethral stricture, Atrial septal defect... |
OMIM:617063 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
| Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Pulmonary hypoplasia, Camptodactyly of finger, Myelomeningocele, Abnormal... |
ORPHA:90652 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Tricuspi... |
OMIM:619167 |
| Cardiofaciocutaneous Syndrome 1 |
|
Open bite, Open mouth, Short neck, Atrial septal defect, High palate, Short nose, Hypertrophic ca... |
OMIM:115150 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Rhizomelia, Broad nasal tip, Knee flexion contracture, Cleft hard palate, Short stature |
ORPHA:166016 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Skeletal muscle atrophy, Long philtrum, Umbilical hernia, Camptodactyly of finger, I... |
ORPHA:2990 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... |
ORPHA:156 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Short neck, Dextrocardia, J... |
ORPHA:3310 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Ren... |
ORPHA:228308 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Delayed eruption of teeth, Long philtrum, Pro... |
ORPHA:85201 |
| Desmosterolosis |
|
Severe short stature, Bifid uvula, Depressed nasal bridge, Abnormality of the nose, Intestinal ma... |
ORPHA:35107 |
| Microcephaly-Micromelia Syndrome |
|
Pulmonary hypoplasia, Intrauterine growth retardation, Oligohydramnios, Narrow mouth, Neonatal de... |
OMIM:251230 |
| Raine Syndrome |
|
Natal tooth, Narrow mouth, Protruding tongue, Neonatal death, Short neck, High palate, Short nose... |
OMIM:259775 |
| Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Narrow mouth... |
ORPHA:2461 |
| Arthrogryposis, Distal, Type 3 |
|
Bifid uvula, Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Knee flexion contrac... |
OMIM:114300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Red-brown urine, Hepatic failure, Elevated circulating hepatic transamin... |
ORPHA:228305 |
| Bartsocas-Papas Syndrome 1 |
|
Tessier cleft, Intrauterine growth retardation, Patent foramen ovale, Short nose, Micropenis, Ect... |
OMIM:263650 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Intrauterine growth reta... |
ORPHA:2470 |
| Dystonia 23 |
|
Arrhythmia, Torticollis |
OMIM:614860 |
| Kleefstra Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmi... |
ORPHA:261494 |
| Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Short neck, Stillbirth, Cleft palate, Pulmonary hypoplasia |
OMIM:256050 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia, Spina bi... |
ORPHA:230839 |
| American Trypanosomiasis |
|
Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Aganglionic megacolon,... |
ORPHA:3386 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size,... |
OMIM:619321 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomyocyte hy... |
ORPHA:91131 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Depressed nasal bridge, Nephrocalcinosis, Dental crowding, Delayed eruption of teeth... |
OMIM:300990 |
| Hec Syndrome |
|
Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Vaginal hydrocele, Polyhydramnios, Commun... |
ORPHA:2119 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, High, narrow palate, Aortic valve stenosis, Bifid uvula, Wide nasal bridge,... |
ORPHA:2780 |
| Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Webbed neck, Long philtrum, Lymphedema, Abnormal heart valve morphology, ... |
ORPHA:1340 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Pleural effusion, Renal insufficiency, Pulmonary edema, Arrhythmia, Pancre... |
ORPHA:188 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormality of the thenar eminence, A... |
ORPHA:85446 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Retinal hemorrhage, Cryptorchidism, Everted lower lip vermilion, C... |
OMIM:620371 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Postnatal growth retardation, Congenital diaphragmatic hernia, Cryp... |
ORPHA:1596 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Long philtrum, Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Congenital ... |
ORPHA:457279 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Hypospadias, Meckel diverticulum, Abnormality of the nose, Anteriorly pla... |
ORPHA:1708 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia |
ORPHA:99772 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Open mouth, Narrow mouth, Cryptorchidism, Ventricular septal defe... |
OMIM:300967 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... |
ORPHA:42 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, High palate, Hi... |
OMIM:208150 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... |
OMIM:212138 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Rectal prolapse, Multiple bladder diverticula, Ascites, Pyloric stenosis, Wide... |
OMIM:613177 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Frontonasal Dysplasia 2 |
|
Wide nasal bridge, Intrauterine growth retardation, Oligohydramnios, Tessier number 13 facial cle... |
OMIM:613451 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Ankyloglossia, Cleft soft palate, Cryptorchidism, Everted lower lip vermilion, Long nose, High pa... |
OMIM:620450 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Pulmonary hypoplasia, Dental malocclusion, Long philtrum, Tented upper lip verm... |
OMIM:618975 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Depressed nasal bridge, Glutaric aciduria, Elevated circulating hepati... |
ORPHA:26791 |
| Fabry Disease |
|
Lipiduria, Lymphedema, Congestive heart failure, Transient ischemic attack, Renal insufficiency, ... |
OMIM:301500 |
| Cystic Fibrosis |
|
Nasal polyposis, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Meconiu... |
ORPHA:586 |
| Holoprosencephaly |
|
Abnormality of the spleen, Congenital diaphragmatic hernia, Encephalocele, Ventricular septal def... |
ORPHA:2162 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intr... |
OMIM:617713 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Cleft soft palate, Cryptorchidism, Ventricular septal defect, Chordee, Mic... |
ORPHA:268261 |
| Holoprosencephaly 1 |
|
Tessier cleft, Median cleft palate, Micropenis, Single ventricle, Short stature, Aplasia of the nose |
OMIM:236100 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Broad nasal tip, Dental crowding, Facial hypotonia, Protruding tongue, Submuco... |
OMIM:618106 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ankyloglossia, Cleft soft palate, Open mouth, Short neck, High, narrow palate, Broad nasal tip, D... |
OMIM:619950 |
| Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Hypotension, Increased circulating prolactin concentration, ... |
ORPHA:91347 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Pagod Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of... |
ORPHA:991 |
| Orofaciodigital Syndrome Type 4 |
|
Perineal fistula, Rectal atresia, Anal atresia, Rectovaginal fistula, Short nose, Wide nose, Abno... |
ORPHA:2753 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Wide nasal bridge, Hypospadias, Long philtrum, Umbilical hernia, Hypertrophic cardiomyopathy, Int... |
OMIM:614052 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Legionnaires Disease |
|
Hypotension, Hepatitis, Abnormal pleura morphology, Renal insufficiency, Splenomegaly, Hematuria,... |
ORPHA:549 |
| Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... |
ORPHA:2671 |
| Diamond-Blackfan Anemia |
|
Wide nasal bridge, Adenocarcinoma of the colon, Depressed nasal bridge, Cleft lip, Webbed neck, A... |
ORPHA:124 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca... |
ORPHA:51608 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... |
ORPHA:1880 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Furrowed tongue, Arrhythmia, Camptodactyly of finger |
ORPHA:2928 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,... |
ORPHA:99104 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Nephr... |
ORPHA:352447 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal... |
ORPHA:818 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduri... |
ORPHA:254913 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
| Zttk Syndrome |
|
Narrow mouth, Absent gallbladder, Ventricular septal defect, Atrial septal defect, High palate, S... |
OMIM:617140 |
| Fryns Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Short neck, Atrial sept... |
OMIM:229850 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Bifid uvula, Depressed nasal bridge, Thick lower lip vermilion, Open mouth, Submucous cleft hard ... |
OMIM:617412 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Natal tooth, Abnormality of the ureter, Large placenta, Cryptorchidism, ... |
OMIM:249000 |
| Mucopolysaccharidosis, Type Ix |
|
Short stature, Bifid uvula, Depressed nasal bridge, Submucous cleft hard palate |
OMIM:601492 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Tricuspid regurgitat... |
OMIM:263520 |
| Severe Congenital Nemaline Myopathy |
|
Nemaline bodies, Hypospadias, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predo... |
ORPHA:171430 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... |
OMIM:609040 |
| Chromosome 2Q37 Deletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Anteverted nares, Arrhythmia, Subvalvular aortic stenosi... |
OMIM:600430 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy |
ORPHA:3222 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Anteverted nares, Congenital diaphragmatic hernia, Abnormality of the dia... |
OMIM:601163 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Intrauterine growth retardation, Oligoh... |
ORPHA:958 |
| Refsum Disease, Classic |
|
Anosmia, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia... |
OMIM:266500 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cranium bifidum occultum, Tessier cleft, Tetralogy of Fallot, Cleft palate |
ORPHA:306542 |
| Truncus Arteriosus |
|
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Aortic regurgitati... |
ORPHA:3384 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoparathyroidism, My... |
ORPHA:2238 |
| Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Disproportionate short-limb short stature, Polyhydramnios, Hydrops fetali... |
ORPHA:85166 |
| Fraser Syndrome 1 |
|
Tessier cleft, Wide nasal bridge, Renal hypoplasia, Myelomeningocele, Abnormal heart morphology, ... |
OMIM:219000 |
| Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Micropenis, Atrial septa... |
OMIM:270400 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Selective tooth agenesis, Cleft upper lip, Underdeveloped nasal alae, Narrow nose,... |
OMIM:164200 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Prominent nose, Narrow mouth, Submucous cleft hard palate, Short stature, Long nose,... |
OMIM:164220 |
| Treacher-Collins Syndrome |
|
Tessier cleft, Wide nasal bridge, Branchial fistula, Encephalocele, Hypoplasia of penis, Cleft pa... |
ORPHA:861 |
| Fontaine Progeroid Syndrome |
|
Narrow mouth, Protruding tongue, Cryptorchidism, Neonatal death, Bicuspid aortic valve, Micropeni... |
OMIM:612289 |
| Infantile Refsum Disease |
|
Cardiomyopathy, Hepatomegaly, Arrhythmia, Short stature, Facial palsy |
ORPHA:772 |
| Agel Amyloidosis |
|
Xerostomia, Cardiomyopathy, Blepharochalasis, Stage 5 chronic kidney disease, Respiratory tract i... |
ORPHA:85448 |
| Stickler Syndrome, Type I |
|
Bifid uvula, Depressed nasal bridge, Anteverted nares, Submucous cleft hard palate, Mitral valve ... |
OMIM:108300 |
| Lethal Congenital Contracture Syndrome 1 |
|
