| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Encephalocele, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Pol... |
OMIM:613885 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema, High palate, Choanal atresia |
OMIM:613611 |
| Nephrosialidosis |
|
Renal insufficiency, Nephrotic syndrome, Pericardial effusion, Nephropathy, Ascites |
OMIM:256150 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Abnormal cardiac septum morphology, Wide mouth, Pericardial effusion, Polycystic k... |
OMIM:608776 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Long philtrum, Perianal abscess, Wide mouth, Pericardial effusion, Wide nasal bridge, Upturned co... |
OMIM:614684 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Chylopericardium, Congestive hear... |
ORPHA:2414 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Long philtrum, Wide nasal br... |
OMIM:239850 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Mild postnatal growth retarda... |
OMIM:235510 |
| Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Pericardial effusion, Gingival overgrowth, Persistent fetal circulation, Ventricu... |
ORPHA:363705 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Respiratory tract infection, Asplenia, Bronchiectasis, Polysplenia... |
ORPHA:244 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Urinary incontinence, High palate, Limb hypertonia, Wide nasal bridge, Pericardia... |
OMIM:620070 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... |
ORPHA:26793 |
| Pai Syndrome |
|
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyposis, Median cleft lip,... |
ORPHA:1993 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Abnormal pulmonary interstitial morphology, Cirrhos... |
ORPHA:77259 |
| Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Nasal polyposis, Absent outer dyne... |
OMIM:616037 |
| Alg9-Cdg |
|
Convex nasal ridge, Pericardial effusion, Abnormal left ventricular outflow tract morphology, Bif... |
ORPHA:79328 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Webbed neck, Pericardial effusion, Hydrocephalus, Camptodactyly, Short nose, Pleural... |
OMIM:617822 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Neoplasm of the nose, Abnormal pigmentation of the ora... |
ORPHA:2869 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Splenomegaly, Renal insufficiency, Small vessel vasculitis, Pericardial effusion, Hem... |
ORPHA:36412 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Abnormal pleura morphology, Tubulointerstitial nep... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Hepatic st... |
OMIM:619487 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Abnormal heart morphology, Facial cleft |
OMIM:239800 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, ... |
ORPHA:99776 |
| Triopia |
|
Polyhydramnios, Midline facial cleft, Encephalocele |
ORPHA:3374 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, H... |
OMIM:620089 |
| Polyvalvular Heart Disease Syndrome |
|
High palate, Prominent nose, Short stature, Mitral valve prolapse, Short philtrum, Abnormal heart... |
ORPHA:228410 |
| Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Absent inner and outer dynein arms, Recurrent sinus... |
OMIM:615444 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Facial cleft, Ventricular septal defect |
OMIM:601357 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural honeycombing,... |
ORPHA:79126 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Lacticaciduria,... |
OMIM:619003 |
| Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Absent inner and outer dynein arms, Recurrent sinus... |
OMIM:614935 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
| Ciliary Dyskinesia, Primary, 35 |
|
Abdominal situs ambiguus, Bronchiectasis, Nasal polyposis, Chronic rhinitis, Recurrent pneumonia,... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Recur... |
OMIM:608647 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Wide nasal bridge, Pericardial effusion, Patent urachus, Pulmonary hypopl... |
OMIM:618280 |
| Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Absent inner and outer dynein arms, Nasal polyposis, Situs inversus totalis, Dext... |
OMIM:606763 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Juvenile Idiopathic Arthritis |
|
Abnormal pleura morphology, Malabsorption, Pericardial effusion, Joint swelling, Hepatomegaly, Ps... |
ORPHA:92 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Wide mouth, Abnormal a... |
ORPHA:1194 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, N... |
OMIM:613808 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
| Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hepatic failure, Hydrops fetalis, Pericardial effusion, Hepatitis, P... |
ORPHA:292 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Mild... |
ORPHA:2136 |
| Lipoid Proteinosis |
|
High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Abnormal oral mucosa mor... |
ORPHA:530 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
| Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Decreased testicular ... |
OMIM:300978 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, High palate, Nasal polyposis, Median cleft lip |
OMIM:155145 |
| Nathalie Syndrome |
|
Short stature, Arrhythmia |
ORPHA:2663 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Cardiomegaly, Ventricular septal defect, Wide nasal bridge, ... |
OMIM:616897 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia, Oligohydra... |
OMIM:616733 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Flexion contracture, Hepatic fibrosis, Villous atrophy, Nephrotic syndrome,... |
OMIM:212065 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Polyhydramnios, Hepatic fibrosis, Abnormality of the liver, Facial clef... |
ORPHA:1505 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Recurrent bronchitis, Communicating hydrocephalus, Nasal polyposis, Abs... |
OMIM:244400 |
| Q Fever |
|
Endocarditis, Abnormal pulmonary interstitial morphology, Myocarditis, Splenomegaly, Abnormality ... |
ORPHA:781 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Intrauterine growth retardation, Arrhythmia |
OMIM:616198 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Abnormality of the pancreas, Pulmonary hypoplasia, ... |
ORPHA:3032 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia, Decreased liver function, I... |
OMIM:617021 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Hematuria, Prolonged QTc interval, Pericardial effusion |
ORPHA:231111 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Nonimmune hydrops fet... |
OMIM:619313 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Mitral valve calcification, Abnormal pulmonary interstitial morp... |
ORPHA:77261 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Persistent fetal circulation, Right ventricular dilatation, Mitral va... |
OMIM:612863 |
| Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Renal insufficiency, Nephrotic syndrome, Pericardial effusion, Raynaud phenomenon, He... |
ORPHA:93552 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Epidural hemorrhage, Pericardial effusion, Enlarged kidney, Abnormal spleen mor... |
ORPHA:464329 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Secundum atrial septal defect, Thin u... |
OMIM:620183 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Short... |
ORPHA:3426 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Cleft upper lip, Flexion contracture, Depressed nasal ridge, Pulmonary hypoplasia... |
OMIM:312150 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pneumothorax, Pericardial effusion, Bronchiectasis |
ORPHA:411703 |
| Acrofacial Dysostosis, Catania Type |
|
Facial cleft, Short stature, Short nose, Spina bifida occulta, Hypospadias, Intrauterine growth r... |
ORPHA:1786 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Abnormal lung lobation, Cystic r... |
OMIM:615415 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pulmonary hypoplasia, Smooth philtrum, Patent foramen ovale, Double outlet rig... |
OMIM:618316 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, T... |
ORPHA:57777 |
| Oculomaxillofacial Dysostosis |
|
Short stature, Facial cleft, Wide nasal bridge |
ORPHA:1794 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormality of small intestinal villus morphology, Pericardial effusion, Ple... |
ORPHA:90362 |
| Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge |
OMIM:613456 |
| Aymé-Gripp Syndrome |
|
Long philtrum, Short stature, Pericardial effusion, Oligodontia, Hydrocephalus, Camptodactyly, Sh... |
ORPHA:1272 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
| Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Pulmonary hypoplasia, Oligohydramnios, Nephropathy, Multipl... |
ORPHA:3033 |
| Hardikar Syndrome |
|
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... |
OMIM:301068 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Choanal stenosis, Narrow nasal ridge, Pulmonary hypoplasia, Oligohydramnios, R... |
OMIM:236500 |
| Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia, Oligohydramnios, Con... |
ORPHA:139466 |
| Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Proteinuria, ... |
ORPHA:225 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Stomatitis, Pleural effusion, Hepatomegaly, Splenomegaly |
OMIM:613011 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, High palate, Long philtrum, Joint contracture of the hand, Pyloric stenosi... |
OMIM:248700 |
| Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, Cleft upper lip, Ventricular septal defect, Bilateral choanal atresia/... |
OMIM:608572 |
| 1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Short stature, Submucous cleft hard palate, Pulmonary hypoplasia, Cong... |
ORPHA:250999 |
| Acromelic Frontonasal Dysostosis |
|
Midline facial cleft, Encephalocele, Wide nasal bridge |
OMIM:603671 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... |
ORPHA:263297 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Absent gallbladder, Encephalocele, Ventri... |
ORPHA:1335 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Elevated circulating thyroid-stimulating hormone concentration, Pericardial effus... |
OMIM:618183 |
| Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Atrophic gastritis, Limb hypertonia, Nephrotic syndrome, Pericardial effusion, Hepa... |
OMIM:615846 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... |
ORPHA:99827 |
| Frontofacionasal Dysplasia |
|
Short stature, Encephalocele, Facial cleft, Short nose |
ORPHA:1791 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Wide nasal bridge, Hypoplastic left atrium, Pulmonary hypoplasia, Cong... |
OMIM:615524 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Shor... |
OMIM:617877 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Peripheral edema, Hepatomegaly, Abnormal P wave, Pulmonary interstit... |
ORPHA:85443 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Abnormal cardiac septum morphology, Delayed eruption of teeth, ... |
ORPHA:2712 |
| Alg3-Cdg |
|
High palate, Abnormal uvula morphology, Neural tube defect, Macroglossia, Pulmonary hypoplasia, D... |
ORPHA:79321 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Long philtrum, Cleft soft palate, Wide nasal bridge, Short stature, Bicuspid aortic valve, Campto... |
OMIM:618529 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Flexion contracture, Depressed nasal ridge, Pulmonary hypoplasia, Amyoplasia, Ede... |
OMIM:253290 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Spinal dysraphism, Short stature, Mitral stenosis, Bifid uvula, Submucous ... |
OMIM:617660 |
| Cystic Fibrosis |
|
Meconium ileus, Biliary cirrhosis, Cirrhosis, Bronchiectasis, Exocrine pancreatic insufficiency, ... |
OMIM:219700 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... |
ORPHA:437572 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Wide nasal bridge, Ventricular arrhythmi... |
ORPHA:37553 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... |
ORPHA:75249 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Shor... |
OMIM:612530 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Polyhydramnios, Flexion contracture, Convex nasal ridge, Periportal fi... |
OMIM:263210 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen... |
OMIM:255320 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
| Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft |
ORPHA:952 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Secundum atrial septal defect, Pulmonary hypoplasia, Holoprosencephaly... |
OMIM:202650 |
| Pallister-Hall-Like Syndrome |
|
Short stature, Anterior hypopituitarism, Hydrocephalus, Pulmonary hypoplasia, Median cleft lip, S... |
OMIM:241800 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Pulmonary hypoplasia, Malformation of the hepatic ductal plate, Hepa... |
OMIM:208540 |
| Peutz-Jeghers Syndrome |
|
Oral melanotic macule, Intussusception, Multiple gastric polyps, Neoplasm of the pancreas, Bile d... |
OMIM:175200 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Abnormal renal tubular resorption, Pulmonary edema, Pericardial effusion, H... |
ORPHA:73224 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... |
ORPHA:2847 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, Hip contractur... |
OMIM:617468 |
| Myhre Syndrome |
|
Ventricular septal defect, Birth length less than 3rd percentile, Short stature, Pericardial effu... |
OMIM:139210 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Short stature, Oligodontia, De... |
OMIM:616331 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Short stature, Arrhythmia |
OMIM:618453 |
| Immunodeficiency 13 |
|
Bronchiectasis, Recurrent sinusitis, Nasal polyposis, Recurrent pneumonia, Recurrent upper respir... |
OMIM:615518 |
| Sarcoidosis |
|
Pneumothorax, Bronchiectasis, Heart block, Pleural effusion, Parotitis, Hepatomegaly, Decreased l... |
ORPHA:797 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Facial cleft |
OMIM:607597 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Patent foramen ovale, Pierre-Robin sequence, Hypodontia, Oligodontia, Postnata... |
OMIM:619184 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Facial cleft |
ORPHA:66625 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Emphysema, Bronchiolitis |
OMIM:604571 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Narrow palate, High palate, Periodontitis, Webbed neck, Pericardial effusion, Mitral ... |
ORPHA:536532 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Convex nasal ridge, High palate, Narrow palate, L... |
OMIM:617022 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Peri... |
OMIM:181000 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, High p... |
OMIM:616866 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... |
ORPHA:422 |
| 19P13.12 Microdeletion Syndrome |
|
Long philtrum, Ventricular septal defect, Hypodontia, Arthrogryposis multiplex congenita, Atrial ... |
ORPHA:254346 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated hepatic t... |
OMIM:235200 |
| Loeys-Dietz Syndrome 5 |
|
Patent foramen ovale, Congenital finger flexion contractures, Decreased muscle mass, High palate,... |
OMIM:615582 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomega... |
OMIM:602390 |
| Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Pulmonary hypoplasia, Median cleft lip, Holoprosencephaly, Short neck, Hepatomega... |
OMIM:269860 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Knee flexion contracture, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Absent uvul... |
OMIM:616531 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Pulmonary hypop... |
OMIM:619148 |
| Ciliary Dyskinesia, Primary, 42 |
|
Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Pneumonia |
OMIM:618695 |
| Propionic Acidemia |
|
Organic aciduria, Cardiomyopathy, Hepatomegaly, Arrhythmia |
ORPHA:35 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... |
OMIM:540000 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Renal angiomyolipoma, Lymphedema, Hydrocephalus, Chylopericardium, Hematuria, Emphy... |
ORPHA:538 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... |
OMIM:611812 |
| Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... |
ORPHA:563 |
| Orofaciodigital Syndrome Xix |
|
Underdeveloped nasal alae, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongu... |
OMIM:620107 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Polyhydramnios, Urethral atresia, Esophageal atresia, Enlarged kid... |
OMIM:314390 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Short stature, Microdontia, Biliary tract abnormality, Short neck, A... |
ORPHA:3191 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Myelomeningocele, High palate, Congenital megaureter, Spina bifida, Hydrocepha... |
ORPHA:2437 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Perimembranous ventricular septal defect, Left-to... |
ORPHA:363444 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Myopathy, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Gitelman Syndrome |
|
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Palpitations, Decreased urin... |
ORPHA:358 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Everted lower lip vermilion, Submucous cleft soft palate, Smoot... |
OMIM:608670 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia, Thin vermilion border, Cle... |
ORPHA:2631 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short stature, Hypodontia, Submucous cleft hard palate, Arrhythmia, Abno... |
ORPHA:3201 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Abnormality of the liver, Hydrocephalus, Elevated hepatic transaminase, Dilated ... |
ORPHA:398124 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Congenital Hypothyroidism |
|
Hypotension, Abnormal pericardium morphology, Depressed nasal ridge, Short stature, Anterior hypo... |
ORPHA:442 |
| Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pulmonary hypoplasia, Hepatomegaly, Dehydration, Hematemesis, Splenomegaly, Hepatic fibrosis, Mul... |
OMIM:263200 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Ureteral stenosi... |
ORPHA:2257 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Bifid uvula, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Submucou... |
OMIM:619103 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Nephropathy, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiom... |
ORPHA:85447 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Increased circulating prolactin concentration, Pericardial effus... |
ORPHA:2905 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Cleft soft palate, Abnormal preputium morphology, Prominent nasal tip, Short phil... |
ORPHA:293725 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Wide nasal bridge, Pulmonary hypoplasia, Ventricular septal defect, Bilateral... |
OMIM:601186 |
| Fryns Syndrome |
|
Non-midline cleft lip, Polyhydramnios, Ectopic anus, Abnormal cardiac septum morphology, Wide nas... |
ORPHA:2059 |
| Naxos Disease |
|
Sudden cardiac death, Cleft upper lip, Paroxysmal ventricular tachycardia, Congestive heart failu... |
ORPHA:34217 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Long philtrum, Wide nasal bridge, Short stature, Velopharyngeal insufficiency, Submucous cleft ha... |
OMIM:614701 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Cleft soft palate, Wide nasal bridge, Short stature, Short nose,... |
ORPHA:2282 |
| Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Webbed neck, Short stature, Esophageal atresia, Submucous cleft hard palate, Unilatera... |
OMIM:619227 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Generalized amyotrophy, Pul... |
ORPHA:994 |
| Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Wide nasal bridge, Abnormality of the pulmonary artery, Spina bifi... |
ORPHA:500 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Hydrops fetalis, High palate, Short stature, Short lingual frenulum, Microdonti... |
OMIM:614091 |
| Noonan Syndrome 5 |
|
Polyhydramnios, Webbed neck, Wide mouth, Short stature, Atrial septal defect, Hypertrophic cardio... |
OMIM:611553 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defect, Depressed nasal bridge... |
ORPHA:2655 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
| Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... |
ORPHA:99095 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Webbed neck, Depressed nasal ridge, Enlarged kidney, Cystic renal dysp... |
OMIM:608022 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Facial hypotonia, Smooth philtrum |
OMIM:614526 |
| Constricting Bands, Congenital |
|
Bladder exstrophy, Facial cleft, Encephalocele, Ectopia cordis |
OMIM:217100 |
| Ogden Syndrome |
|
Underdeveloped nasal alae, Enlarged naris, Everted upper lip vermilion, Ventricular septal defect... |
ORPHA:276432 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Syncope, Submucous cleft hard palate, Posteriorly placed tongue, Premature... |
OMIM:192445 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Elbow flexion contracture, Elevated hepatic transaminase, Hep... |
OMIM:608836 |
| 3Mc Syndrome 3 |
|
Short stature, Facial cleft, Penoscrotal hypospadias, Horseshoe kidney, Growth delay, Micropenis |
OMIM:248340 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
| Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Pierre-Robin sequence, Cleft soft palate, High palate, Long philtrum, Ventricular... |
OMIM:117650 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Anteverted nares |
OMIM:613124 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Pericardial effusion, Jaundice, Atrophy of alveolar ridges, Elevated hepatic trans... |
ORPHA:167 |
| Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Atrial septa... |
OMIM:619314 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hypertension, Pulmonary... |
OMIM:602088 |
| Polymyositis |
|
Abnormal pulmonary interstitial morphology, Abnormal atrioventricular conduction, Abnormal mitral... |
ORPHA:732 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Encephalocele, Hydrops fetalis, Wide nasal bridge, Hydrocephalus, Pulmonary ... |
ORPHA:1865 |
| Rheumatic Fever |
|
Endocarditis, Abnormal pleura morphology, Aplasia/Hypoplasia of the abdominal wall musculature, A... |
ORPHA:3099 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Hepatic fibrosis, Anencephaly, Hydrocephalus, Pulmonary hypo... |
OMIM:612284 |
| Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Splenomegaly, Hepatic failure, Everted upper lip vermilion, Ascites, Pulmonary hy... |
OMIM:608013 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Heart block,... |
ORPHA:185 |
| Hydrolethalus |
|
Polyhydramnios, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard p... |
ORPHA:2189 |
| Ogden Syndrome |
|
Thick upper lip vermilion, Torsade de pointes, Everted upper lip vermilion, Wide nasal bridge, Se... |
OMIM:300855 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, High palat... |
ORPHA:3309 |
| Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Hydrops fetalis, Ventricular septal defect, Facial cleft |
ORPHA:268249 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Polyhy... |
OMIM:616867 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Ventricular septal defect, Short stature, Atrial septal defect, Situs inversus tot... |
OMIM:249270 |
| Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum m... |
ORPHA:980 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Hyp... |
ORPHA:156 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal ... |
OMIM:616546 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Splenomegaly, Flexion contracture, Diastasis rec... |
OMIM:608149 |
| Myhre Syndrome |
|
Abnormal cardiac septum morphology, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submuco... |
ORPHA:2588 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... |
ORPHA:99106 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Rhizomelia, Short stature, Broad nasal tip, Cleft hard palate |
ORPHA:166016 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Mosaic Trisomy 1 |
|
Short upper lip, Camptodactyly of finger, Polyhydramnios, Penile hypospadias, Renal cortical cyst... |
ORPHA:1692 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Hypertrophic cardiomyopathy, Short neck, Splenomegaly, Hydrocephalus, Atrial sept... |
OMIM:115150 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatic failure, Rhabdomyolysis, Elevated hepatic transaminase, Hepatic ... |
ORPHA:228305 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Limb hypertonia, Spina bifida, Organic aciduria, Hepatomegaly |
ORPHA:99742 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Hepatic failure, Polycystic kidney dysplasia, Cystic renal dysplasi... |
ORPHA:228308 |
| Distal Tetrasomy 15Q |
|
Flexion contracture, High palate, Polycystic kidney dysplasia, Hydrocephalus, Camptodactyly, Pulm... |
ORPHA:314588 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia |
OMIM:310095 |
| Dystonia 23 |
|
Torticollis, Arrhythmia |
OMIM:614860 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, High palate, Rhizomelia, Wide nasal bridge, Submucous cleft hard palate, Dis... |
OMIM:222765 |
| Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Short stature, Velop... |
OMIM:192430 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Ketonuria, Left ventricular hypertrophy, Dilated card... |
OMIM:619167 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Congestive heart failure, Periorbital edema, Edema, Hepatomegaly, Arrhythm... |
ORPHA:3386 |
| Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Knee flexion contracture, Distal arthrogryposis, Decreased muscle mass, ... |
OMIM:114300 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Clef... |
ORPHA:2461 |
| Desmosterolosis |
|
Splenomegaly, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Short nose, Intestinal mal... |
ORPHA:35107 |
| Hec Syndrome |
|
Vaginal hydrocele, Cardiomyopathy, Polyhydramnios, Communicating hydrocephalus, Arrhythmia, Endoc... |
ORPHA:2119 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormal tendon morphology, Abnormality of the thenar eminence, Macroglossia, Congestive heart fa... |
ORPHA:85446 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin, Mitral valve prolapse, Spina bifida occulta, Skeletal muscle atrophy, Gastrointestinal... |
ORPHA:230839 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Pineal cyst, Left ventricular noncompaction, Submucous cleft soft palate, Deviated nasal septum, ... |
OMIM:300967 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Convex nasal ridge, Cleft soft palate, Short stature, Decreased testicular s... |
OMIM:619321 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia, Oligohydramnio... |
OMIM:619879 |
| Teebi Hypertelorism Syndrome 1 |
|
Long philtrum, Natal tooth, Ventricular septal defect, Wide nasal bridge, Short stature, Pulmonar... |
OMIM:145420 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent foramen ovale, Polyhydramnios, Short stature, Delayed eruption of teeth, Nephrocalcinosis,... |
OMIM:300990 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Supernumerary nipple, Everted lower lip vermilion, Pulmonary artery st... |
ORPHA:261494 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Submucous cleft hard palate, Spina bif... |
ORPHA:2780 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Chronic rhinitis |
OMIM:242670 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Long philtrum, Webbed neck, Lymphedema, Short stature, Hydrocephalus, Submucous clef... |
ORPHA:1340 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Enlarged pituitary gland, Increased circulating prolactin concentration, Elevated ci... |
ORPHA:91347 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Ectopia cordis, Pulmonary hypoplasia, Congenital dia... |
OMIM:313850 |
| Dk1-Cdg |
|
Interstitial cardiac fibrosis, Short stature, Elevated hepatic transaminase, Dilated cardiomyopat... |
ORPHA:91131 |
| Fabry Disease |
|
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... |
OMIM:301500 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Oligomeganephronia |
|
Stage 5 chronic kidney disease, Secundum atrial septal defect, Hypertension, Pulmonary hypoplasia... |
ORPHA:2260 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated he... |
ORPHA:42 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Pulmonary edema, Pleural effusion, Pericarditis, Oliguria, Arrhythmia, ... |
ORPHA:188 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Long ... |
ORPHA:2990 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, High palate, Long philtrum, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:457279 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Dicarboxylic... |
OMIM:255120 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue, Camptodactyly of finger, Short stature, Arrhythmia |
ORPHA:2928 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Myelomeningocele, Encephalocele, Pierre-Robin sequence, Abnormal cardiac... |
ORPHA:90652 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Pulmonary hypoplasia, Breast aplasia, Heart block, Cleft palate, Second degre... |
OMIM:617063 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Holoprosencephaly |
|
Spinal dysraphism, Anterior hypopituitarism, Median cleft lip, Holoprosencephaly, Short neck, Too... |
ORPHA:2162 |
| Bartsocas-Papas Syndrome 1 |
|
Patent foramen ovale, Facial cleft, Short nose, Ectopic kidney, Intrauterine growth retardation, ... |
OMIM:263650 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Decreased liver function, Polycystic kidney dysplasia, Elevated hepatic transamin... |
ORPHA:26791 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Long philtrum, Wide nasal bridge, Hypertension, Oligohydramnios, Hyp... |
OMIM:614052 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Polyhydramnios, Vesicoureteral reflux, High palate, Long philtrum, Pulmonary hypop... |
OMIM:614080 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... |
ORPHA:1880 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Short stature, Delayed eruption of teeth, Anal atresia,... |
ORPHA:884 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Ventricular hypertrophy, Pancreatic calcific... |
ORPHA:51608 |
| Blackfan-Diamond Anemia |
|
Abnormality of the thenar eminence, Adenocarcinoma of the colon, High palate, Cleft soft palate, ... |
ORPHA:124 |
| Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morp... |
ORPHA:2470 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum morphology, Me... |
ORPHA:2753 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Wide nose, Multicystic kidney dysplasia, Hip contracture, Long philtrum... |
ORPHA:85201 |
| Legionnaires Disease |
|
Hypotension, Endocarditis, Abnormal pleura morphology, Hepatitis, Jaundice, Pancreatitis, Recurre... |
ORPHA:549 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Wide nasal bridge, Short stature, Submucous cleft hard palate, Protrudin... |
OMIM:618106 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Breast aplasia, Ventricular septal defect, Supernumerary tooth, Short nose, Cr... |
ORPHA:268261 |
| Tetrasomy 9P |
|
Convex nasal ridge, Abnormal cardiac septum morphology, Bifid uvula, Pulmonary hypoplasia, Perica... |
ORPHA:3310 |
| Refsum Disease, Classic |
|
Congestive heart failure, Abnormal renal physiology, Anosmia, Arrhythmia, Cardiomegaly, Limb musc... |
OMIM:266500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Cleft soft palate, Wide nasal bridge, Microdontia, Broad columella, Short neck, Smooth philtrum, ... |
OMIM:619950 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Flexion contracture, Depressed nasal ridge, Spina bi... |
ORPHA:2671 |
| Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia, Depressed nasal bridge, Short neck, Stillbirth, Cleft palate |
OMIM:256050 |
| Raine Syndrome |
|
Microdontia, Pulmonary hypoplasia, Short neck, Cleft palate, Gingival overgrowth, Arthrogryposis ... |
OMIM:259775 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Short stature, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, ... |
OMIM:617412 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Wide nasal bridge, Oligohydramnios, Tessier number 13 facial cleft, Intrauterine g... |
OMIM:613451 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hypertension, Arrhythmia |
ORPHA:3222 |
| Familial Isolated Hypoparathyroidism |
|
Short stature, Delayed eruption of teeth, Nephropathy, Myopathy, Hypoparathyroidism, Arrhythmia, ... |
ORPHA:2238 |
| Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Pulmonary hypoplasia |
OMIM:617194 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
| Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Wide nose, Short stature, Depressed nasal bridge, Broad nasal tip, A... |
OMIM:600430 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Convex nasal ridge, Aqueductal stenosis, Pulmonary hypoplasia, Oligohydramnios, Narrow... |
OMIM:251230 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Aspiration pneumonia, Cleft soft palate |
ORPHA:99772 |
| Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate, Short stature |
OMIM:601492 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Fryns Syndrome |
|
Polyhydramnios, Wide nasal bridge, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate,... |
OMIM:229850 |
| Zttk Syndrome |
|
Flexion contracture, Wide nasal bridge, Bifid uvula, Unilateral lung agenesis, Intestinal atresia... |
OMIM:617140 |
| Caudal Regression Syndrome |
|
Vesicoureteral reflux, Decreased muscle mass, Arrhinencephaly, Hypertension, Anal atresia, Pulmon... |
ORPHA:3027 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Nephrol... |
ORPHA:352447 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Wide mouth, Craniofacial asymmetry, Pulmonary hypoplasia, Atrial septa... |
ORPHA:1708 |
| Oculodentodigital Dysplasia |
|
Underdeveloped nasal alae, Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agene... |
OMIM:164200 |
| Infantile Refsum Disease |
|
Cardiomyopathy, Short stature, Hepatomegaly, Arrhythmia, Facial palsy |
ORPHA:772 |
| Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Cleft palate, Postnatal g... |
ORPHA:1596 |
| Barth Syndrome |
|
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Skeletal myopathy, Recurrent bronchitis,... |
OMIM:302060 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Decreased muscle mass, Elevated jugular venous pressure, Hepatocellular carcinoma, Con... |
ORPHA:465508 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture |
OMIM:616516 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:157973 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Pulmonary hypoplasia, Elbow c... |
OMIM:208150 |
| Congenital Myopathy 17 |
|
Dental malocclusion, Respiratory tract infection, Distal arthrogryposis, High palate, Long philtr... |
OMIM:618975 |
| Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Respiratory tract infection, Blepharochalas... |
ORPHA:85448 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Ventricular septal defect, Wide nasal bridge, Delayed erupt... |
ORPHA:1071 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hydrops fetalis, Rhabdomyolysis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestiv... |
OMIM:609015 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Multicystic kidney dysplasia, Encephalocele, Abnormal testis m... |
ORPHA:991 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Wide nasal bridge, Pulmonary hypoplasia,... |
OMIM:613177 |
| Meacham Syndrome |
|
Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidn... |
OMIM:608978 |
| Schilbach-Rott Syndrome |
|
Prominent nose, Short stature, Bifid uvula, Submucous cleft hard palate, Hypospadias, Narrow mout... |
OMIM:164220 |
| Familial Mediterranean Fever |
|
Pedal edema, Nephrotic syndrome, Malabsorption, Pleuritis, Peritonitis, Pancreatitis, Pericarditi... |
ORPHA:342 |
| Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Left ventricular diastolic dysfunction, Pulmo... |
OMIM:620067 |
| Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Mitral valve prolapse, Bifid uvula, Submucous cleft hard palate, Depressed... |
OMIM:108300 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, ... |
ORPHA:731 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl... |
OMIM:615084 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Webbed neck, Ventricular septal defect, Lymphedema, Predominantly lower limb lym... |
OMIM:153400 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
| Benign Schwannoma |
|
Abnormality of the liver, Abnormal parotid gland morphology, Nasal polyposis, Intestinal polyposi... |
ORPHA:252164 |
| Cystic Fibrosis |
|
Meconium ileus, Cirrhosis, Pneumothorax, Abnormality of the liver, Bronchiectasis, Malabsorption,... |
ORPHA:586 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Malf... |
OMIM:249000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy... |
OMIM:310200 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Atrioventricular canal defect, Polyhydramnios, P... |
ORPHA:3047 |
| Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Bifid tongue, Wide nasal bridge, Pulmonary hypopla... |
ORPHA:818 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Hydrops fetalis, Ventricular septal defect, Polycystic kidney dysplasia, Pulmon... |
OMIM:263520 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal nostril morphology, Long philtrum, Wide nasal bridge, Depressed... |
ORPHA:178303 |
| Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Aplasia of the no... |
OMIM:301043 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Hydrocephalus, Anal atresi... |
OMIM:309801 |
| Fabry Disease |
|
Angina pectoris, Hypertrophic cardiomyopathy, Lymphedema, Transient ischemic attack, Left ventric... |
ORPHA:324 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Hepatic failure, Rhabdomyolysis, Stage 5 chronic kidney disease, Po... |
ORPHA:157 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft, Tetralogy of Fallot, Cranium bifidum occultum, Wide nasal bridge |
ORPHA:306542 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Encephalocele, Wide nasal bridge, Facial cleft, Hypospadias, Abnormal heart mor... |
OMIM:219000 |
| Kawasaki Disease |
|
Abnormal pulmonary interstitial morphology, Hepatitis, Jaundice, Recurrent pharyngitis, Glossitis... |
ORPHA:2331 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, C... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, C... |
ORPHA:100077 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
| Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Flexion contracture, Edema of the dorsum of hands, Pulmonary hypoplasia, Type 1 m... |
ORPHA:171430 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Abnormal lung lobation, Short philtrum, Pulmonary ... |
ORPHA:958 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery... |
ORPHA:3384 |
| Treacher-Collins Syndrome |
|
Encephalocele, Facial cleft, Wide nasal bridge, Hypoplasia of penis, Branchial fistula |
ORPHA:861 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia, Testicular atrophy... |
OMIM:601163 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Diffuse h... |
ORPHA:746 |
| Giant Cell Arteritis |
|
Sudden cardiac death, Abnormal pleura morphology, Hepatic failure, Cerebral ischemia, Recurrent p... |
ORPHA:397 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Flexion contracture, Cleft soft palate, Ischemic stroke, Delayed eru... |
OMIM:619503 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Flexion contracture, Convex nasal ridge, Pulmonary hypoplasia, Choanal atresia, S... |
OMIM:275210 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Depressed nasal bridge, Disproportionate s... |
ORPHA:85166 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Ectopic anus, Short stature, Aplasia of the p... |
ORPHA:3138 |
| Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Bifid uvula, Pulmonary hypoplasia, Hepatic steatosis, Hypertrophic cardiomyopa... |
OMIM:270400 |
| Cree Mental Retardation Syndrome |
|
Hypospadias, Webbed neck, Cleft soft palate, Cryptorchidism |
OMIM:606851 |
| Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Hydronephrosis, Hepatic failure, Extrahepatic cholestasis, Cardi... |
ORPHA:100076 |
| Typhoid |
|
Abnormal pulmonary interstitial morphology, Cardiac arrest, Epistaxis, Gastrointestinal hemorrhag... |
ORPHA:99745 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| Tarp Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Wide nasal bri... |
ORPHA:2886 |
| Pmm2-Cdg |
|
Multiple joint contractures, Pericardial effusion, Elevated hepatic transaminase, Angina pectoris... |
ORPHA:79318 |
| Fontaine Progeroid Syndrome |
|
Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Microdontia, Pulmonary hypoplas... |
OMIM:612289 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hypopituitarism, Hypoplasia of the musculat... |
ORPHA:231226 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Flexion contracture, Short stature, Submucous cleft hard palate, Atrial septal defect, Generalize... |
OMIM:618891 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Cleft soft palate, Bladder diverticulum, Type 1 muscle fiber predominance, Mitral... |
OMIM:614557 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Hypertension, Anal atresia, Pu... |
ORPHA:411709 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Acute kidney injury, Exercise-ind... |
ORPHA:57 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Hypoplastic colon, Cystic renal dysplasia, Pulmon... |
OMIM:200995 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Absent nasal bridge, Short stature, Bulbous nose, Long nose, Short nose,... |
ORPHA:261211 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Absent nasal bridge, Pulmonary hypoplasia, Anal atresia, Esophag... |
OMIM:617925 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Webbed neck, Short stature, Pulmonary hypoplasia, Short neck, Skeletal muscle atr... |
ORPHA:1486 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Atrioventricular canal defect, Bifid tongue, High palate, Natal tooth, Tongue nodules... |
ORPHA:2751 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Underdeveloped nasal alae, Ventricular septal def... |
ORPHA:2710 |
| Holoprosencephaly 1 |
|
Aplasia of the nose, Short stature, Facial cleft, Single ventricle, Micropenis |
OMIM:236100 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ... |
ORPHA:565612 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Pulmonary hypoplasia, Edema, Skeletal muscle atrophy, Neonatal dea... |
OMIM:253310 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Abnormal heart mo... |
OMIM:154500 |
| Native American Myopathy |
|
High palate, Muscle fiber atrophy, Short stature, Bifid uvula, Camptodactyly, Abnormality of skel... |
ORPHA:168572 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia, Limb muscle weak... |
OMIM:609286 |
| Walker-Warburg Syndrome |
|
Muscular dystrophy, Bifid uvula, Submucous cleft hard palate, Hypoplasia of penis, Hydrocephalus,... |
ORPHA:899 |
| Isolated Arrhinia |
|
Aplasia of the nose, Facial cleft |
ORPHA:1134 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Hepatic failure, Rhabdomyolysis, Dicarboxylic aciduria, Elevated hepatic transaminas... |
ORPHA:159 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Disproportionate short-trunk short stature, Severe short stature, Cleft soft palate |
ORPHA:93316 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Prominent nose, Rhizomelia, Pulmonary... |
OMIM:616300 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Camptodactyly, Submucous cleft hard palate,... |
ORPHA:2804 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... |
ORPHA:275766 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pulmonary arterial hypertension, Cerebral edema, Flexion contracture, Muscle fiber atrophy, Reduc... |
ORPHA:258 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Long philtrum, Short stature, Delayed eruption of teeth, Polycystic ki... |
OMIM:184260 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Renal tubular acidosis, Short stature, Hypoparathyroidism, A... |
OMIM:530000 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, He... |
ORPHA:2038 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Hypopituitarism, Hypoplasia of the musculat... |
ORPHA:231214 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:99944 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Pulmonary edema, Reduced left ventricular ejection fraction, Acute kidney injury, De... |
ORPHA:542323 |
| Viss Syndrome |
|
Polyhydramnios, Pneumothorax, Cleft soft palate, Bifid tongue, Bifid uvula, Submucous cleft soft ... |
OMIM:619472 |
| Mucopolysaccharidosis Type 2 |
|
Wide nasal bridge, Hepatomegaly, Gingival overgrowth, Splenomegaly, Flexion contracture of digit,... |
ORPHA:580 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Camptodactyly, Pulmonary hypoplasia, Short neck... |
OMIM:265000 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Polyhydramnios, Multiple joint contractures, Microcolon, Pulmonary hypop... |
ORPHA:1662 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Wide nasal bridge, Exaggerated median tongue furrow, Supernumerary nipple, Hepato... |
OMIM:312870 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, High palate, Ventricular septal defect, Prolonged neonatal jaundice, Pulmonary hyp... |
OMIM:214100 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Biliary cirrhosis, Unbalanced atrioventricular can... |
OMIM:619534 |
| Granulomatosis With Polyangiitis |
|
Angina pectoris, Pericarditis, Intestinal obstruction, Abnormal oral cavity morphology, Arrhythmi... |
ORPHA:900 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Torticollis, Submucous cleft hard palate, Thin upper lip vermilion, Downturned... |
OMIM:619680 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Cleft upper lip, Webbed neck, Predominantly lower limb lymphedema, ... |
ORPHA:33001 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... |
ORPHA:99050 |
| Specc1L-Related Hypertelorism Syndrome |
|
Long philtrum, Ventricular septal defect, Wide nasal bridge, Advanced eruption of teeth, Atrial s... |
ORPHA:1519 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis, Facial cleft, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Dispropor... |
ORPHA:93271 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Wide nasal bridge, Hepatosplenomegaly, Gingival ove... |
ORPHA:217085 |
| Achondrogenesis Type 2 |
|
Edema, Pierre-Robin sequence, Pulmonary hypoplasia, Short stature |
ORPHA:93296 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Delayed eruption of teeth, Bifid uvula, Contracture of the proximal interpha... |
OMIM:300166 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Supernumerary nipple, Anteverted nares, Scapular winging, Unilateral... |
OMIM:619122 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ventricular arrhythmia, Elevated hepatic transaminase, Facial diplegia, Palpitations, Facial pals... |
ORPHA:254892 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Wide nasal bridge, Hepatosplenomegaly, Gingival ove... |
ORPHA:217093 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Renal tubular acidosis, Type 2 muscle fiber predominance, Elevated hepatic transaminase, Everted ... |
OMIM:615471 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Pulmonary hypoplasia, Oligohydramnios, Tracheoesoph... |
ORPHA:1848 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Depressed nasal bridge, Pulmonary hypoplasia, Ventricular septal defect |
OMIM:617895 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Atelosteogenesis Type I |
|
Polyhydramnios, Rhizomelia, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Multiple r... |
ORPHA:1190 |
| Noonan Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Webbed neck, Short stature, Ly... |
ORPHA:648 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Patent foramen ova... |
OMIM:256520 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Orofaciodigital Syndrome Type 10 |
|
Long philtrum, Cleft soft palate, Depressed nasal bridge, Short neck, Accessory oral frenulum |
ORPHA:2756 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Knee flexion contracture, Hip contracture, Wide mouth, Deep philtrum, Wide nasal bridge, Microdon... |
OMIM:619194 |
| Mgat2-Cdg |
|
Convex nasal ridge, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, Low han... |
ORPHA:79329 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Pu... |
OMIM:231680 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Flexion contracture, Mild intrauterine growth retardation, Abnormal cardiac sept... |
OMIM:308050 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Coffin-Siris Syndrome 12 |
|
Noncommunicating hydrocephalus, Prominent nasal tip, Elevated hepatic transaminase, Celiac diseas... |
OMIM:619325 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Short neck, Absent nipple, Premature loss of teeth, Rootless teeth, Carious teeth, U... |
ORPHA:1299 |
| Campomelic Dysplasia |
|
Irregular dentition, Polyhydramnios, Spinal dysraphism, Cleft palate, Spina bifida, Hydrocephalus... |
OMIM:114290 |
| Microscopic Polyangiitis |
|
Peritonitis, Hematuria, Congestive heart failure, Pericarditis, Epistaxis, Oliguria, Gastrointest... |
ORPHA:727 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Heart-Hand Syndrome Type 2 |
|
Arrhythmia, Abnormal palate morphology, Cryptorchidism, Abnormality of the dentition |
ORPHA:1350 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia |
ORPHA:96 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
| Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Pneumothorax, Ventricular septal defect, Bronchiectasis, Esophag... |
ORPHA:95430 |
| Costello Syndrome |
|
Polyhydramnios, Pneumothorax, Hypertrophic cardiomyopathy, Short neck, Ventricular septal defect,... |
OMIM:218040 |
| Penile Agenesis |
|
Ventricular septal defect, Bilateral lung agenesis, Absent penis, Urethral fistula, Hydroureter, ... |
ORPHA:49 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ischemic stroke, Wide nasal bridge, Bifid uvula, Unilateral lung agenesis, Submucous cleft soft p... |
ORPHA:500150 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Hydrops fetalis, Disproportionate short-trunk short stature, Pulmonary hypoplasia... |
OMIM:200600 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Myocardial infarction, Proteinuria, Arrhythmia, Renal insufficiency |
ORPHA:54057 |
| Liddle Syndrome |
|
Cerebral ischemia, Hypertension, Nephropathy, Arrhythmia, Renal insufficiency |
ORPHA:526 |
| Lethal Congenital Contracture Syndrome 9 |
|
Polyhydramnios, Short umbilical cord, Pulmonary hypoplasia, Thin upper lip vermilion, Depressed n... |
OMIM:616503 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Hypoplasia of penis, Arrhythmia, Growth delay, Cryptorchidism |
ORPHA:168593 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Pulmonary hypoplasia, Severe short stature, Disproportionate short-limb short ... |
OMIM:224410 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Underdeveloped nasal alae, Pancreatic hypoplasia, Biliary hyperplasia, Choanal st... |
ORPHA:83617 |
| Meier-Gorlin Syndrome 5 |
|
Long philtrum, Birth length less than 3rd percentile, Short stature, Submucous cleft hard palate,... |
OMIM:613805 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Dilatation of renal calices, Convex nasal ridge, Submucous cleft soft pa... |
ORPHA:3455 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, Thin skin, High palate, Long philtrum, Repeated pneumothoraces, Multip... |
ORPHA:536467 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Camptodactyly of finger, Wide nose, High palate, Wide nasal bridge, Short stature, T... |
ORPHA:2135 |
| Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... |
ORPHA:93672 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect, Short stature, Pulmonary hypoplasia, Depressed nasal b... |
OMIM:615503 |
| Dubowitz Syndrome |
|
Hydronephrosis, High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Postnatal grow... |
ORPHA:235 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Camptodactyly, Pulmonary hypoplasia, Hepatoblastoma, Abnormality of th... |
ORPHA:798 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia |
ORPHA:2141 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
| Dubowitz Syndrome |
|
High palate, Wide nasal bridge, Delayed eruption of teeth, Short stature, Velopharyngeal insuffic... |
OMIM:223370 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Hypodontia, Bifid uvula, Absent nipple, Breast aplasia, Submucous cleft sof... |
ORPHA:69085 |
| Scorpion Envenomation |
|
Rhabdomyolysis, Pulmonary edema, Ketonuria, T-wave inversion, Cardiogenic shock, Prominent U wave... |
ORPHA:466677 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Knee flexion contracture, Thin skin, Pulmonary arterial medial h... |
OMIM:601559 |
| Esophageal Atresia |
|
Bronchitis, Polyhydramnios, Recurrent respiratory infections, Ventricular septal defect, Pyloric ... |
ORPHA:1199 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Submucous cleft hard palate, Branchial fistula, Short stature |
OMIM:609166 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Hydrocephalus, Pulmonary hypoplasia, Disproportionate short-limb short stature, S... |
OMIM:187600 |
| Genetic Recurrent Myoglobinuria |
|
Lower limb muscle weakness, Abnormality of jaw muscles, Acute kidney injury, Exercise-induced myo... |
ORPHA:99845 |
| Tolchin-Le Caignec Syndrome |
|
Diastasis recti, High palate, Prominent nose, Wide nasal bridge, Cardiac rhabdomyoma, Submucous c... |
OMIM:618971 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Polyhydramnios, Webbed neck, Aortopulmonary window, Ventricular ... |
OMIM:620025 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Arrhythmia, Hypovolemic shock, Dehydratio... |
ORPHA:171876 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Isolated Cleft Lip |
|
Non-midline cleft lip, Supernumerary maxillary incisor, Polyhydramnios, Bilateral cleft lip, Hypo... |
ORPHA:199302 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Multiple joint contractures, Elbow flexion contracture, Pulmonary hypoplasia... |
ORPHA:536471 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, ... |
ORPHA:261537 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Aplasia/Hypoplasia... |
ORPHA:2140 |
| Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Polyhydramnios, Everted lower lip vermilion, Abnormality of the ureter... |
ORPHA:800 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Aqueductal stenosis, Pulmonary hypoplasia, Intestinal malrotation, Intrauterine gro... |
ORPHA:3035 |
| Phakomatosis Pigmentokeratotica |
|
Lymphedema, Spina bifida, Raynaud phenomenon, Pheochromocytoma, Arrhythmia, Cryptorchidism, Unila... |
ORPHA:2874 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Mowat-Wilson Syndrome |
|
Asplenia, Flexion contracture, Abnormal cardiac septum morphology, Delayed eruption of teeth, Wid... |
ORPHA:2152 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Hyposmia, Bifid uvula, Submucous cleft hard palate, Hypoplasia of pen... |
ORPHA:2250 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Cleft upper lip, Arrhythmia, Hypoplastic nipples, Abnormality of the dentition |
OMIM:273400 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Macular edema, Neoplasm of the pancreas, Hyper... |
ORPHA:892 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Spinal dysraphism, Flexion contracture, Wide nasal bridge, Camptodactyly, Pulmona... |
ORPHA:96334 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cerebral ischemia, Wide mouth, Hydrocephalus, Arrhythmia, Depressed nasal bridge, Telangiectasia ... |
ORPHA:60040 |
| Dermatomyositis |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Myocarditis, Sinus t... |
ORPHA:221 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Bifid uvula, Submucous cleft hard palate, Breast aplasia, Hypoplasia of ... |
ORPHA:2554 |
| Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Cleft upper lip, Single naris, Urethral atresia, Asplenia, A... |
OMIM:273395 |
| Atelosteogenesis Type Ii |
|
Rhizomelic arm shortening, Polyhydramnios, Long philtrum, Rhizomelia, Elbow flexion contracture, ... |
ORPHA:56304 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Abnormality of the anus, Wide nasal bridge, Bifid uvula, Camptodactyly, ... |
OMIM:607872 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... |
OMIM:157170 |
| Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion |
OMIM:612292 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Facial palsy, Bifid uvula, Submucous cleft hard palate, Choanal atresia, Epispadias, ... |
ORPHA:2658 |
| Mowat-Wilson Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Prominent nasal tip, Supernumerary nipple, Pulmonar... |
OMIM:235730 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, ... |
ORPHA:261552 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Short stature, Arrhythmia |
OMIM:616298 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Charge Syndrome |
|
Polyhydramnios, Abnormal cardiac septum morphology, Delayed eruption of teeth, Anterior hypopitui... |
ORPHA:138 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Elevated hepatic transaminase, Arrhythmia, Left bundle branch block, Li... |
OMIM:610131 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia |
ORPHA:624 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Intrauterine growth ret... |
ORPHA:86822 |
| Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Depressed nasal ridge, Short stature, Advanced eruption of teeth,... |
ORPHA:828 |
| Acrorenal-Mandibular Syndrome |
|
High palate, Narrow palate, Elbow flexion contracture, Absent nipple, Polycystic kidney dysplasia... |
OMIM:200980 |
| Vacterl With Hydrocephalus |
|
Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Spina bifida, Arrhinencephaly, Hydroceph... |
ORPHA:3412 |
| Hereditary Angioedema Type 1 |
|
Hypotension, Abnormal uvula morphology, Edema of the dorsum of hands, Intestinal edema, Pharyngea... |
ORPHA:100050 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of the anus, Abnormal cardiac septum morphology, Abnormal testis morphology, Wide nas... |
ORPHA:2556 |
| Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Oliguria, Arrhythmia, Dehy... |
ORPHA:31824 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Localized Scleroderma |
|
Dental malocclusion, Flexion contracture, Vasculitis, Raynaud phenomenon, Abnormal upper lip morp... |
ORPHA:90289 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Short stature, Jaundice, Pulmonary h... |
OMIM:208500 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Cockayne Syndrome A |
|
Dental malocclusion, Enamel hypoplasia, Splenomegaly, Hip contracture, Delayed eruption of primar... |
OMIM:216400 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Rhizomelia, Pulmonary hypoplasia, Depressed nasal bridge, Short neck, Stillbirth,... |
OMIM:151210 |
| Fraser Syndrome |
|
Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridge, Pulmonary hypoplasia, Orofac... |
ORPHA:2052 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria, Pulmonary hypoplasia, Oligohydramnios |
OMIM:191830 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Natal tooth, Rhizomelia, Pulmonary hypoplasia, Sh... |
ORPHA:50945 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Renal Tubular Dysgenesis |
|
Hypotension, Anuria, Pulmonary hypoplasia, Oligohydramnios |
OMIM:267430 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Acute kidney injury, Hepat... |
ORPHA:509 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Mildly reduced left ventricular ejection fraction, Arrhythmia |
OMIM:618098 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Convex nasal ridge, Noncommunicating hydrocephalus, Delayed eruption of teet... |
ORPHA:666 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Microcolon, Pyelonephritis, Pulm... |
OMIM:619351 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Botulism |
|
Xerostomia, Urinary retention, Arrhythmia |
ORPHA:1267 |
| Cockayne Syndrome B |
|
Dental malocclusion, Splenomegaly, Renal insufficiency, Delayed eruption of primary teeth, Normal... |
OMIM:133540 |
| Ulbright-Hodes Syndrome |
|
Convex nasal ridge, Pneumothorax, High palate, Birth length less than 3rd percentile, Postnatal g... |
ORPHA:3404 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Urinary incontinence, Aspiration pneumonia, Rhabdomyolysis, Acut... |
ORPHA:94093 |
| Greenberg Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Depressed nasal ridge, Rhizomelia, Abnormal lung lobation, Pulmo... |
OMIM:215140 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Congestive heart failure, Myopathy, Skeletal muscle atrophy, Skeletal muscle... |
ORPHA:682 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Elevated hepatic transam... |
OMIM:256040 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormal nostril morphology, Long philtrum, Deep philtrum, Abnormal nasal morphology, Abnormality... |
ORPHA:2878 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
| Foodborne Botulism |
|
Xerostomia, Urinary retention, Arrhythmia |
ORPHA:228371 |
| Carney Triad |
|
Ascites, Hypertension, Pheochromocytoma, Gastrointestinal hemorrhage, Arrhythmia, Gastrointestina... |
ORPHA:139411 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Arrhythmia |
ORPHA:464453 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Lyme Disease |
|
Joint swelling, Atrioventricular block, Arrhythmia |
ORPHA:91546 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Wide nose, Polyhydramnios, Multicystic kidney dysplasia, Hip contractur... |
OMIM:606170 |
| Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Congestive heart failure, Arrhythmia |
ORPHA:98375 |
| Achondroplasia |
|
Polyhydramnios, Choanal stenosis, Rhizomelia, Hydrocephalus, Pulmonary hypoplasia, Depressed nasa... |
OMIM:100800 |
| Mastocytosis |
|
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin, Hepatomegaly, A... |
ORPHA:98292 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema, Inflammat... |
OMIM:619708 |
| Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Downturned corners of mouth, Facial hypotonia, Cardiac conduction abnormality, A... |
ORPHA:2131 |
| Amoebiasis Due To Free-Living Amoebae |
|
Respiratory tract infection, Cerebral edema, Hyposmia, Abnormality of taste sensation, Myocardial... |
ORPHA:68 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Underdeveloped nasal alae, Splenomegaly, Wide nasal bridge, Microcolon, Aganglionic megacolon, He... |
ORPHA:163746 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydronephrosis, Prominent nose, Hydroureter, Bifid uvula, Submucous cleft hard palate, Long nose,... |
ORPHA:2636 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Ketonuria, Elevated hepatic transaminase, EMG: myopathic abnormalities, Prolonged Q... |
ORPHA:480864 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Plague |
|
Hypotension, Endocarditis, Splenomegaly, Enterocolitis, Glossitis, Inflammation of the large inte... |
ORPHA:707 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Short stature, Taurodontia, Abnormal dental enamel morphology, Arrhythmi... |
ORPHA:3220 |
| Pallister-Killian Syndrome |
|
Polyhydramnios, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, P... |
OMIM:601803 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Neonatal death, Myocardial steatosis |
OMIM:228100 |
| Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Aganglionic megacolon, Hydroureter, Polycystic kidney dysplas... |
OMIM:236700 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Intracranial hemorrhage, Internal hemorrhage, Epi... |
ORPHA:906 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Pulmonary hypoplasia, Orofacial cleft, Agenesis of maxillary lateral incisor, Cryp... |
OMIM:309800 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Polyhydramnios, Ventricular septal defect, Wide nasal bridge, Short st... |
OMIM:617360 |
| Ulnar-Mammary Syndrome |
|
Anterior pituitary hypoplasia, Ventricular septal defect, Hypodontia, Pyloric stenosis, Elbow fle... |
OMIM:181450 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Disproportionate short stature, Atrioventricular block, Arrhythmia, My... |
ORPHA:93317 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia |
ORPHA:845 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Leber Optic Atrophy |
|
Myopathy, Arrhythmia |
OMIM:535000 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long philtrum, Short stature, Arrhythmia |
OMIM:171480 |
| Joubert Syndrome 21 |
|
Single naris, Occipital encephalocele, Renal cyst, Pulmonary hypoplasia |
OMIM:615636 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Anal atresia, Pulmonary hypoplasia, Oligohydramnios, Short neck, Hydronephrosis |
OMIM:271520 |
| Neuroocular Syndrome |
|
Patent foramen ovale, Short stature, Widely spaced teeth, Ankyloglossia, Submucous cleft hard pal... |
OMIM:619539 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelia, Atrial septal defect, Disproportionate short stature, Depressed nasal bridge, Short n... |
OMIM:250220 |
| African Trypanosomiasis |
|
Urinary incontinence, Third degree atrioventricular block, Renal insufficiency, Abnormal EKG, Jau... |
ORPHA:3385 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Vesicoureteral reflux, Cleft upper lip, Multicystic kidney dysplasia, Br... |
OMIM:164210 |
| Ivic Syndrome |
|
Severe short stature, Rectovaginal fistula, Anal atresia, Arrhythmia |
ORPHA:2307 |
| Dpagt1-Cdg |
|
Flexion contracture, Camptodactyly, Intracranial hemorrhage, Pulmonary hypoplasia, Elevated hepat... |
ORPHA:86309 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Inflammation of the large intestine, Psoriasiform dermatitis, Arrhythmia |
OMIM:106300 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Aplasia/Hypoplasia of the abdominal wall musculature, Thin skin, Malabsorption, Micro... |
ORPHA:285 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Congestive heart failure, Arrhythmia, Nephrocalcinosis, Hypercalciuria, Hypermagnesi... |
ORPHA:428 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Persistent cloaca, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1112 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
