Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Congestive heart failure |
OMIM:301021 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Lambert Syndrome |
|
Malar flattening, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... |
ORPHA:1041 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Attention deficit hyperactivity disorder |
OMIM:300850 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine... |
OMIM:615440 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... |
ORPHA:2414 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Aorto-ventricular tunnel, Congestive he... |
ORPHA:3400 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia |
OMIM:201550 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar... |
ORPHA:860 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Finger joint hypermobility, Atrial se... |
ORPHA:363705 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Short statur... |
OMIM:255160 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Polydactyly, Talipes eq... |
OMIM:613885 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... |
OMIM:619048 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a... |
ORPHA:90308 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Multiple... |
OMIM:620070 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... |
OMIM:612292 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrauteri... |
OMIM:619751 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... |
ORPHA:1194 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Right ventricular failur... |
ORPHA:324604 |
Mulibrey Nanism |
|
Short stature, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Grow... |
OMIM:253250 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Congenital Disorder Of Glycosylation, Type Il |
|
Edema, Short neck, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Intrauterine growth retardation, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Rocker bottom foot, Camptodactyly of finger, Short neck, Sho... |
ORPHA:261519 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... |
ORPHA:275766 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Velopharyngeal insufficiency, High palate |
OMIM:608363 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Webbed neck... |
ORPHA:1131 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... |
OMIM:614669 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Postnatal growth retar... |
OMIM:610198 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites, Metaphyseal irregularity |
OMIM:269920 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Truncus arteriosus, Short neck, Short 5th finger, Clin... |
OMIM:615583 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction |
ORPHA:132 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... |
ORPHA:57777 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Desminopathy |
|
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... |
ORPHA:98909 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hemochromatosis, Type 2A |
|
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at... |
ORPHA:49827 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Edema, Pericardial effusion, Cutaneous syndactyly, Webbed n... |
OMIM:617822 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopathy, Mitral regurgitati... |
OMIM:212140 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... |
ORPHA:54028 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... |
OMIM:615703 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Patent ductu... |
ORPHA:980 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Dk1-Cdg |
|
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... |
ORPHA:91131 |
Hemochromatosis, Type 2B |
|
Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, N... |
OMIM:235510 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... |
ORPHA:330001 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... |
ORPHA:1349 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Abnormal heart valve morphology, Short neck, Congestive heart failure, Dila... |
OMIM:230500 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Scimitar Syndrome |
|
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... |
ORPHA:185 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea... |
OMIM:208000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology |
ORPHA:70472 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lower limb hyperton... |
OMIM:619487 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... |
ORPHA:500533 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... |
ORPHA:36412 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:157973 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congesti... |
ORPHA:367 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... |
OMIM:235200 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Acha... |
ORPHA:3386 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Sandhoff Disease |
|
Congestive heart failure |
ORPHA:796 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... |
ORPHA:206569 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb... |
OMIM:266500 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty... |
ORPHA:77259 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ge... |
ORPHA:52430 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal placement of ... |
OMIM:601808 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... |
ORPHA:324410 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
Cednik Syndrome |
|
Congestive heart failure, Short stature |
ORPHA:66631 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short stature, Congestive heart failure, Dilated cardiomyopathy, Heart murm... |
ORPHA:2326 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis, Dila... |
ORPHA:1054 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Short stature, Camptodactyly of finger, Short neck,... |
ORPHA:915 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... |
ORPHA:2348 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... |
ORPHA:313892 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Congestive heart failure, Pate... |
ORPHA:354 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites |
ORPHA:93552 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Abnormal humerus morphology, Pericardial effusion, Abnormal femur... |
ORPHA:464329 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Myhre Syndrome |
|
Short neck, Atrial septal defect, Short stature, Pericardial effusion, Short toe, Generalized mus... |
OMIM:139210 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Arachnodactyly, Short stature, Tapered finge... |
ORPHA:1600 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... |
ORPHA:79083 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Clubbing of fin... |
OMIM:605676 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Torticollis, Ulnar deviation of the hand, Ventricular septal defect, ... |
ORPHA:79328 |
Poems Syndrome |
|
Edema, Pericardial effusion, Metaphyseal sclerosis, Clubbing of fingers, Pulmonary arterial hyper... |
ORPHA:2905 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:164220 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Martsolf Syndrome 1 |
|
Short metacarpal, Short stature, Cardiac arrest, Metatarsus adductus, Slender ulna, Short toe, Os... |
OMIM:212720 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... |
OMIM:613443 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema |
OMIM:611126 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Congenital Generalized Lipodystrophy |
|
Congestive heart failure, Low posterior hairline, Skeletal muscle hypertrophy, Macroglossia, Larg... |
ORPHA:528 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus, Pericardial... |
ORPHA:536532 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Myocardial infarction, Coxa valga, Avascular necrosis of the ... |
ORPHA:3342 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Abnormal heart valve morphology, Short stature, ... |
OMIM:309900 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Acroosteolysis of distal phalanges (feet), Abnormal atrioventricular... |
ORPHA:280365 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger,... |
ORPHA:1272 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh... |
OMIM:609015 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdomyolysis, Cardiomyopa... |
ORPHA:746 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... |
OMIM:212065 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide mouth, Unilateral clef... |
OMIM:619103 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Mucopolysaccharidosis-Plus Syndrome |
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Short neck, Congestive heart failure, Metaphyseal widening, Flexion contracture, Clubbing, Patent... |
OMIM:617303 |
Auriculocondylar Syndrome |
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Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... |
ORPHA:137888 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Portal hypertension, Cardio... |
ORPHA:465508 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Orofaciodigital Syndrome Iv |
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Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Oculofaciocardiodental Syndrome |
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Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Rapidly Involuting Congenital Hemangioma |
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Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
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Glossoptosis, Cleft palate, Aggressive behavior |
OMIM:618356 |
Capillary Malformation-Arteriovenous Malformation |
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Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi... |
ORPHA:137667 |
Collagenoma, Familial Cutaneous |
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Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Craniosynostosis 2 |
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Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Q Fever |
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Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... |
ORPHA:781 |
Tetrasomy 5P |
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Redundant neck skin, Overlapping toe, Short hallux, Short neck, Postnatal growth retardation, Lon... |
ORPHA:3309 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
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Left ventricular hypertrophy, Congestive heart failure, Cerebral edema, Intrauterine growth retar... |
OMIM:619355 |
Hutchinson-Gilford Progeria Syndrome |
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Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Gro... |
OMIM:176670 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Ventricular septal defect, Short stature, Proportionate short stature, Congesti... |
OMIM:608328 |
Fabry Disease |
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Conjunctival telangiectasia, Bundle branch block, Lymphedema, Abnormal femur morphology, Atrioven... |
ORPHA:324 |
Lymphoproliferative Syndrome 1 |
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Pericardial effusion, Pleural effusion |
OMIM:613011 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Mit... |
ORPHA:1900 |
Seckel Syndrome 10 |
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Ventricular hypertrophy, Severe short stature, Congestive heart failure, Metaphyseal widening, Hy... |
OMIM:617253 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Furrowed tongue |
ORPHA:2928 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Aicardi-Goutieres Syndrome 7 |
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Edema, Pericardial effusion, Hematemesis, Vasculitis, Oligohydramnios, Hematochezia, Hypertension... |
OMIM:615846 |
Congenital Disorder Of Glycosylation, Type Iie |
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Skeletal muscle atrophy, Short stature, Short neck, Secundum atrial septal defect, Congestive hea... |
OMIM:608779 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Eosinophilic Granulomatosis With Polyangiitis |
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Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptoda... |
ORPHA:261330 |
Hydrolethalus |
|
Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
Angelman Syndrome Due To A Point Mutation |
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Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I... |
ORPHA:411511 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Buratti-Harel Syndrome |
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Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Generalized Arterial Calcification Of Infancy |
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Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Medial calcification... |
ORPHA:51608 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... |
OMIM:619680 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Congestive heart failure, Tibial bowing, Disproportionate short-limb s... |
OMIM:166210 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Babesiosis |
|
Congestive heart failure, Myocardial infarction, Clinodactyly of the 5th toe |
ORPHA:108 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Transient ischemic attack, Short stature, Short neck, Abnormal fe... |
ORPHA:1830 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of... |
ORPHA:2136 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea... |
ORPHA:26791 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Congestive heart failure, Pleural empyema, Constrictive pericard... |
ORPHA:67 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
Trisomy 8Q |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Abnormal oral frenulum morphology, High pal... |
ORPHA:1752 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Growth de... |
OMIM:616271 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polypos... |
ORPHA:2930 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Split hand, Umbilical hernia, Aortic regurgitation, Myelopath... |
OMIM:252500 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Abnormal ca... |
ORPHA:565612 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Tricusp... |
ORPHA:508542 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Umbilical hernia, Short stature, Edema |
ORPHA:2505 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Alstrom Syndrome |
|
Short stature, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Atherosclerosis |
OMIM:203800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Short neck, Congestive heart failure, Patent ductus arterio... |
ORPHA:505248 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Short stature |
ORPHA:3077 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Short stature, Congestive heart failure, Split hand, Abnormal te... |
ORPHA:579 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Intrauterine growth re... |
ORPHA:525731 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... |
ORPHA:989 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarction, S... |
ORPHA:902 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Submucous cleft hard pal... |
OMIM:612863 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyl... |
ORPHA:261337 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Micrognathia |
ORPHA:2260 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:276198 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Retrog... |
ORPHA:2780 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
Geleophysic Dysplasia 1 |
|
Short stature, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Congestive heart failure,... |
OMIM:231050 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... |
ORPHA:31824 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Absent thumb, Short neck, Short thu... |
OMIM:105650 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... |
OMIM:617403 |
Gitelman Syndrome |
|
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Delayed puberty,... |
ORPHA:358 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... |
OMIM:615895 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Increased nuchal translu... |
ORPHA:352665 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ... |
ORPHA:98794 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Spinal... |
ORPHA:2162 |
Dietary Iron Overload Disease |
|
Congestive heart failure, Abnormal heart morphology |
ORPHA:139507 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Congestive heart failure, Pleural effusion, Joint swelling, Abno... |
ORPHA:35687 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... |
ORPHA:457279 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... |
ORPHA:570 |
Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... |
ORPHA:308552 |
Neutral Lipid Storage Myopathy |
|
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failu... |
ORPHA:98908 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Epistaxis, Edema |
ORPHA:167 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Pulmonary ... |
ORPHA:220393 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Congestive heart failure, Disproportionate short stature, Tibia... |
OMIM:616482 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:192430 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Postnatal growth retardation, Congestive heart failure... |
ORPHA:90348 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, At... |
OMIM:617660 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis, Anorexia |
ORPHA:90045 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Macroglossia, ... |
OMIM:610253 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... |
OMIM:123700 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Transient ischemic attack, ... |
ORPHA:3260 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel... |
OMIM:616078 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger... |
ORPHA:464 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate |
OMIM:222765 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Myocarditis, Congestive ... |
ORPHA:466677 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Arac... |
OMIM:154700 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Avian Influenza |
|
Congestive heart failure, Pleural effusion, Rhabdomyolysis |
ORPHA:454836 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dysphagia, Abnormal uvula morpho... |
ORPHA:100050 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... |
ORPHA:33226 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Short stature, Congestive heart failure, Patent ductus arteriosus, Sma... |
ORPHA:444077 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Severe short stature, Congestive heart failure, Dilatation... |
ORPHA:90349 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Arachnodactyly, Congestive heart failure, De... |
ORPHA:558 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Short stature, Cardiomegaly, Cox... |
OMIM:182250 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... |
ORPHA:508488 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, Diastema, Furrowed to... |
OMIM:300534 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri... |
OMIM:212093 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel diverticulum |
OMIM:311900 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:861 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd... |
OMIM:616843 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Patent ductus arteriosus, Submucous cleft soft palate, Intrauter... |
ORPHA:2282 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia, Death in childhood |
OMIM:211530 |
Vici Syndrome |
|
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... |
OMIM:242840 |
Desmosterolosis |
|
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Submucous cleft hard palate, Clef... |
ORPHA:35107 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Clubbing |
OMIM:181000 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... |
OMIM:301043 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di... |
ORPHA:231226 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Short stature, Congestive heart failure, Renovascular hyp... |
ORPHA:391487 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Broad hallux, Micrognathia, Carious teeth, Atrial septal defect, Cli... |
OMIM:620186 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... |
OMIM:616300 |
Mandibuloacral Dysplasia |
|
Abnormal tongue morphology, High palate, Dental crowding, Hypoplasia of teeth |
ORPHA:2457 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Triosephosphate Isomerase Deficiency |
|
Oligohydramnios, Skeletal muscle atrophy, Myopathy, Congestive heart failure |
OMIM:615512 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Palpebral edema, Short stature, Cardiac myxoma, Congestive heart failure, 3-4 ... |
OMIM:181270 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Dysphagia |
OMIM:617114 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Abnormality of the... |
ORPHA:904 |
Listeriosis |
|
Pericarditis, Stiff neck, Myocarditis, Congestive heart failure, Rhabdomyolysis, Endocarditis, Nu... |
ORPHA:533 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Pyloric stenosis, ... |
ORPHA:2461 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di... |
ORPHA:231214 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca |
OMIM:260450 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Atypical Werner Syndrome |
|
Premature arteriosclerosis, Skeletal muscle atrophy, Telangiectasia of the skin, Rocker bottom fo... |
ORPHA:79474 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Myopathy, Hypertension, Congestive heart failure |
ORPHA:85450 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... |
OMIM:619475 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Angina pectoris, Myocardial infarction, Sudden cardiac death, Precoci... |
ORPHA:391665 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cleft hard palate, Cl... |
ORPHA:2671 |
Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure, Ascites, Polyhydramnios, Intrauterine growth retardation |
OMIM:617156 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe, Muscul... |
OMIM:601992 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc... |
OMIM:115150 |
Abetalipoproteinemia |
|
Cardiomegaly, Congestive heart failure, Myopathy, Talipes equinovarus, Distal lower limb muscle w... |
ORPHA:14 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Cleft palate, Midline notch of upper alveolar ridge, Lobulated tongue, Abnor... |
ORPHA:2754 |
Aceruloplasminemia |
|
Congestive heart failure, Torticollis |
ORPHA:48818 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Cleft soft palate, Abnormal pulmonary valve morphology, Aggressive beh... |
ORPHA:268261 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia |
OMIM:602361 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Dysphagia, Microglossia |
OMIM:254940 |
Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate, Death in infancy |
ORPHA:1393 |
Tolchin-Le Caignec Syndrome |
|
Submucous cleft hard palate, High palate, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:618971 |
Branchioskeletogenital Syndrome |
|
Abnormality of the dentition, Carious teeth, Submucous cleft hard palate, Premature loss of teeth... |
ORPHA:1299 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Carious teeth, Velopharyngeal insufficiency, Submucous ... |
OMIM:223370 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Generalized Pustular Psoriasis |
|
Congestive heart failure, Pedal edema |
ORPHA:247353 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Lon... |
OMIM:256040 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum |
OMIM:619321 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Short philtrum, Hig... |
ORPHA:958 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... |
ORPHA:464738 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors |
OMIM:618891 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Malabsorption |
ORPHA:47 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Hamartoma of tongue, Accessory oral frenulum... |
ORPHA:2750 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L... |
ORPHA:1051 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... |
ORPHA:1507 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Part... |
OMIM:164210 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Subarachnoid hemorrhage, High-output congestive heart fai... |
ORPHA:90307 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Proportionate short stature, Congestive heart failure, Small hand, Short foot, Clino... |
ORPHA:2108 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Malabsorption, Abnormality of the dentition, Rectal pro... |
ORPHA:235 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Right ventricular dilatation, High palate, ... |
OMIM:619472 |
Hardikar Syndrome |
|
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct... |
OMIM:301068 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Downturned corners of mouth,... |
OMIM:619503 |
Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W... |
OMIM:619194 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Generalized amyotrophy, Palmar ... |
ORPHA:171 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Micrognathia, Cleft lip, Abnormal heart morphology,... |
ORPHA:124 |
Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Attenti... |
OMIM:616580 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Myelopathy, Second degree atri... |
ORPHA:3385 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate... |
ORPHA:2658 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... |
OMIM:269860 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Submucous cleft hard palate, High palate, Hypoplasia of the zygo... |
ORPHA:1340 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... |
OMIM:300166 |
Zttk Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus... |
OMIM:617140 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Tongue atrophy |
ORPHA:101085 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cleft hard palate, B... |
ORPHA:3047 |
Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Arachnodactyly, Congestive heart failure, Arterial rupture, Talipes ... |
OMIM:225400 |
Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Marked delay in eruption of permanent teeth, Gingi... |
ORPHA:97360 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Lon... |
ORPHA:79318 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Patent foramen ovale, ... |
OMIM:607872 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
Giant Cell Arteritis |
|
Glossitis, Anorexia |
ORPHA:397 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Autosomal Dominant Robinow Syndrome |
|
Open bite, High, narrow palate, Abnormality of the gingiva, Supernumerary tooth, Gingival overgro... |
ORPHA:3107 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia |
OMIM:601559 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Atrial septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Cl... |
ORPHA:500150 |
Restrictive Dermopathy 1 |
|
Natal tooth, Atrial septal defect, Micrognathia, Patent ductus arteriosus, Submucous cleft hard p... |
OMIM:275210 |
Mucoepithelial Dysplasia, Hereditary |
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Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... |
ORPHA:818 |
Restrictive Dermopathy |
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Natal tooth, Dextrocardia, Micrognathia, Large placenta, Patent ductus arteriosus, Submucous clef... |
ORPHA:1662 |
Branchiooculofacial Syndrome |
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Proximal placement of thumb, Short neck, Micrognathia, Short thumb, Preaxial hand polydactyly, Cl... |
OMIM:113620 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Widely spaced t... |
ORPHA:2152 |
Orofaciodigital Syndrome Type 14 |
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Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palate, Aplasia of the e... |
ORPHA:434179 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Attention deficit hyperactivity d... |
OMIM:616975 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Short philtrum,... |
ORPHA:261537 |
Agel Amyloidosis |
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Tongue atrophy, Xerostomia |
ORPHA:85448 |
Beta-Thalassemia Intermedia |
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High-output congestive heart failure, Pulmonary arterial hypertension |
ORPHA:231222 |
Witteveen-Kolk Syndrome |
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Microretrognathia, Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal p... |
OMIM:613406 |
Charcot-Marie-Tooth Disease Type 4C |
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Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Neuroocular Syndrome |
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Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Marshall-Smith Syndrome |
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Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... |
OMIM:602535 |
Campomelic Dysplasia |
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Irregular dentition, Spina bifida, Micrognathia, Carious teeth, Submucous cleft hard palate, Clef... |
OMIM:114290 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Cleft palate, Aplasia of the ep... |
OMIM:615948 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Short philtrum,... |
ORPHA:261552 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d... |
ORPHA:1596 |
Holoprosencephaly 2 |
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Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Spinocerebellar Ataxia Type 7 |
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Congestive heart failure |
ORPHA:94147 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Congenital malformation of t... |
ORPHA:3455 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Coffin-Siris Syndrome 12 |
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Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Abnormal ... |
OMIM:619325 |
Glucagonoma |
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Intestinal obstruction, Anorexia, Steatorrhea, Stomatitis, Glossitis |
ORPHA:97280 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Micrognathia, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Intrauterine gro... |
ORPHA:2636 |
Familial Isolated Dilated Cardiomyopathy |
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Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Meckel Syndrome, Type 1 |
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Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Fraser Syndrome |
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Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
Cowden Syndrome |
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Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Abnormal heart morphology,... |
OMIM:101400 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Pa... |
OMIM:235730 |
Carney Complex |
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Cardiac myxoma, Hypertension, Congestive heart failure |
ORPHA:1359 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Multiple Endocrine Neoplasia Type 2 |
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Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border |
ORPHA:653 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy |
ORPHA:466768 |
Yunis-Varon Syndrome |
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Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
Microsporidiosis |
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Glossitis, Anorexia |
ORPHA:2552 |
Plague |
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Chapped lip, Anorexia, Enterocolitis, Inflammation of the large intestine, Glossitis |
ORPHA:707 |
Stüve-Wiedemann Syndrome |
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Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
Alström Syndrome |
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Short stature, Portal hypertension, Congestive heart failure, Short toe, Dilated cardiomyopathy, ... |
ORPHA:64 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia |
ORPHA:93271 |