Right Ventricular Hypoplasia, Isolated |
|
Hypoplasia of right ventricle |
OMIM:277200 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Trypsinogen Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:614044 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia, Long philtrum |
OMIM:218010 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Stroke, Right ventricular dilatation, Left atrial enlargement |
OMIM:614022 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... |
OMIM:618164 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... |
OMIM:613684 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
17Q21.31 Microduplication Syndrome |
|
High palate, Malar flattening, Micrognathia, Abnormality of the dentition, Short philtrum, Short ... |
ORPHA:217340 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia |
OMIM:301200 |
Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... |
ORPHA:86816 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta |
OMIM:614300 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Left ventricular hypertrophy, Right ventricul... |
ORPHA:217607 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gingival fibromatosis, Sh... |
ORPHA:1832 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares |
OMIM:614069 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Anteverted nares, Mandibular prognathia, Dental malocclusion, High palate |
OMIM:618292 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Transaldolase Deficiency |
|
Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta |
ORPHA:101028 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy |
ORPHA:369847 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Right ventricular dilatation |
ORPHA:422 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Mcdonough Syndrome |
|
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Prominent nose, Abnormal palate mor... |
ORPHA:2471 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Short neck, Coarctation of aorta, Ventricular septal defect, Webbed neck |
OMIM:616559 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Right ventricular dilatation |
OMIM:619705 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... |
ORPHA:1248 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... |
OMIM:612863 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:615502 |
Catel-Manzke Syndrome |
|
Short neck, Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Cystic ... |
OMIM:616145 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Depressed nasal bridge, Enamel hypoplasia, Hypoplastic frontal s... |
OMIM:253250 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... |
OMIM:614262 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Stroke, Myofiber disarray, Muscular ventricular septal defect, Myopathy... |
OMIM:115197 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Micrognathia, Lon... |
ORPHA:261120 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Mental Retardation, Buenos Aires Type |
|
High palate, Dental malocclusion, Wide mouth, Carious teeth, Prominent nose, Mandibular prognathi... |
OMIM:249630 |
Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Stroke-like episode, Myocarditis, Dilated cardiomyopathy, Left atri... |
ORPHA:563 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... |
ORPHA:1327 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose |
OMIM:615541 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... |
ORPHA:3426 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Hypocholesterolemia |
OMIM:610539 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:398063 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition |
ORPHA:1858 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... |
ORPHA:1695 |
Hypercalcemia, Infantile, 1 |
|
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis |
OMIM:143880 |
Atrial Septal Defect, Sinus Venosus Type |
|
Anomalous pulmonary venous return, Stroke, Right ventricular dilatation |
ORPHA:99105 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Malar flattening, Micrognathia, Diastema, Broad columella, Underdeveloped na... |
ORPHA:436245 |
Ménétrier Disease |
|
Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Dila... |
OMIM:601494 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... |
OMIM:257850 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Hypoplastic left heart, Coar... |
OMIM:301022 |
Sandestig-Stefanova Syndrome |
|
Short neck, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal ... |
OMIM:618804 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia |
OMIM:214700 |
Timothy Syndrome |
|
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... |
OMIM:618901 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Depressed nasal... |
ORPHA:61 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Rhiny |
|
Anteverted nares, Short nose, Thin vermilion border |
OMIM:180360 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... |
ORPHA:1529 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... |
ORPHA:363444 |
Phaver Syndrome |
|
Myelomeningocele, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery atresia, Ventri... |
ORPHA:2876 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth |
OMIM:613670 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Dental malocclusion, Mandibular prognathia, High palate |
OMIM:608931 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Cleft palate, Everted lower lip vermilion, Broad nasal tip, ... |
OMIM:619736 |
Transaldolase Deficiency |
|
Atrial septal defect, Short neck, Coarctation of aorta, Ventricular septal defect, Patent ductus ... |
OMIM:606003 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Low hanging columella, Long nose, Micrognathia... |
OMIM:613680 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... |
OMIM:601186 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose, Mandibular prognathia, Thin ... |
ORPHA:2429 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Right atrial enlargement, Anomalous pulmonary venous return, Stroke, Ano... |
ORPHA:99104 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Short nec... |
OMIM:616564 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... |
ORPHA:477817 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Increased nuchal translucency, Atrioventricular canal defe... |
OMIM:605275 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Broad nasal tip, Incisor macrodontia, Widely-spaced maxillary central inciso... |
OMIM:619719 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... |
OMIM:306955 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect |
ORPHA:1388 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... |
ORPHA:26793 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Stroke, Anomalo... |
ORPHA:363705 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Micrognathia, Downturned corners of mouth, Short nose, Anteverted nares, ... |
OMIM:614744 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Mcdonough Syndrome |
|
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Prominent nose, Mandibular pr... |
OMIM:248950 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Micrognathia, Short nose, Abnormal palate morphology, Intrauterine growth retardation |
ORPHA:1495 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Peho-Like Syndrome |
|
Retrognathia, Short nose, Open mouth |
OMIM:617507 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Short philtrum, Microdontia, Enamel hypoplasia, Widely spaced te... |
OMIM:619293 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Micrognathia, Short nose, Long philtrum |
ORPHA:2598 |
Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum |
ORPHA:46 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... |
OMIM:603463 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft pa... |
OMIM:616331 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta |
OMIM:614857 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Prominent nasal bridge, Hypoplasia of the maxilla |
OMIM:608432 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth |
OMIM:601957 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Mental Retardation, X-Linked 91 |
|
High palate, Short nose, Macrodontia |
OMIM:300577 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
Three M Syndrome 2 |
|
High palate, Dental malocclusion, Prominent nasal tip, Malar flattening, Depressed nasal bridge, ... |
OMIM:612921 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal circulating histidine concentration |
ORPHA:51208 |
Myopathy, Congenital, Nonprogressive |
|
Abnormal circulating creatine kinase concentration, Weakness of facial musculature, Atrial septal... |
OMIM:619967 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Paten... |
OMIM:617159 |
Potocki-Lupski Syndrome |
|
High palate, Dental malocclusion, Wide mouth, Prominent nasal tip, Micrognathia, Dental crowding,... |
OMIM:610883 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
Larsen-Like Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Cleft palate, Malar flattening, Absent nasal bridge |
OMIM:608545 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... |
OMIM:265380 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Cleft palate, Micrognathia, Short nose, Wide nasal bridge |
OMIM:614078 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Macrodontia, Anteverted nares, Pro... |
OMIM:617883 |
Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Short nose, Abnormal palate morphology, Prominent nasal bridge, Wide n... |
ORPHA:1200 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Camptodactyly, Ventr... |
OMIM:617602 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Thin upper lip vermilion, Wide nasal bridge, Open mouth |
OMIM:619149 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... |
ORPHA:980 |
Perlman Syndrome |
|
High, narrow palate, Retrognathia, Micrognathia, Broad alveolar ridges, Abnormality of upper lip,... |
ORPHA:2849 |
Short Syndrome |
|
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... |
OMIM:269880 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Micrognathia, De... |
OMIM:264475 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... |
ORPHA:85321 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Tented upper lip vermilion, Open mouth, Dental crowding, Mandibular prognathia |
OMIM:300143 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Diaphragmatic eventration, Elevated circulating glutaric acid... |
ORPHA:66634 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Atrial Septal Defect, Ostium Primum Type |
|
Right atrial enlargement, Left ventricular hypertrophy, Pulmonary artery dilatation, Left atrial ... |
ORPHA:99106 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Dental crowding, Everted lower lip vermilion, Anterior open-bite malocclusion, Long ... |
OMIM:617877 |
Atrial Standstill |
|
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Ischemic stroke, Skeleta... |
ORPHA:1344 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Camptodactyly of finger, Coarctation of aorta, Tetralogy o... |
ORPHA:2008 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Neonatal death, Dilated cardiomyopa... |
OMIM:619167 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Advanced eruption of teeth, Ventricular... |
OMIM:117550 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Short nose, Microretrognathia, Long philtrum |
ORPHA:1389 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... |
ORPHA:1906 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Pulmonic stenosis, Short neck, Ventricular septal defect, Webbed neck, Hype... |
OMIM:615279 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... |
OMIM:618727 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:264480 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Mandibular prognat... |
ORPHA:3079 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Low posterior hairline, Atrioventricular canal defect |
OMIM:618929 |
Chung-Jansen Syndrome |
|
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Short nose, Ante... |
OMIM:617991 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid... |
OMIM:615160 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Bulbous nose, Micrognathia, Short nose, Open mouth, Thin upper lip vermilion, Intrau... |
OMIM:613604 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Abnormal palate morphology |
ORPHA:1450 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Webbed neck, Low posterior hairline, Muscular ventricular septal defect |
OMIM:619227 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Myopathy, Tubular Aggregate, 2 |
|
Foot dorsiflexor weakness, Hypocalcemia, Elevated circulating creatine kinase concentration, Flex... |
OMIM:615883 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... |
OMIM:157980 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Convex nasal ridge, Thin vermilion border, Short philtrum, Hypoplasia of... |
OMIM:156510 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... |
ORPHA:1166 |
Ohdo Syndrome |
|
Narrow mouth, Thin vermilion border, Depressed nasal bridge, Micrognathia, Long philtrum, Widely ... |
OMIM:249620 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pat... |
OMIM:618748 |
Alg9-Cdg |
|
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Thickened nuchal skin fold, Sho... |
ORPHA:79328 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Depressed nasal bridge, Delayed eruption of teeth, ... |
OMIM:612350 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:616430 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Noonan Syndrome 11 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Triangular mouth, Broad nasal tip, Micrognathia, Abnormality of the dentitio... |
OMIM:618529 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Coarctation of aorta |
OMIM:300514 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Long nose, Intrauterine growth retardation |
ORPHA:2115 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Short nose, Narrow nasal bridge |
ORPHA:1514 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Micrognathia, Deep philtrum, Short nose, Thin upper lip vermilion |
ORPHA:329178 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:601450 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Narrow mouth, Micrognathia, Microdontia, Short nose, Open mouth, Anteverted nares, Delayed erupti... |
OMIM:619356 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Depressed nasal bridge, Long philtrum, Hypoplasia of the maxilla,... |
ORPHA:261295 |
Pycnodysostosis |
|
Obtuse angle of mandible, Dental malocclusion, High palate, Convex nasal ridge, Persistence of pr... |
ORPHA:763 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... |
OMIM:600460 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Intermediate Osteopetrosis |
|
Dental malocclusion, Abnormality of dental morphology, Osteosclerosis of the base of the skull, A... |
ORPHA:210110 |
Osteolysis Syndrome, Recessive |
|
Broad nasal tip, Hypoplasia of the maxilla |
OMIM:259610 |
Distal Trisomy 18Q |
|
High palate, Micrognathia, Carious teeth, Short nose, Choanal atresia, Anteverted nares, Abnormal... |
ORPHA:1716 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Hypoproteinemia |
ORPHA:2315 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Short neck, Ventricular se... |
OMIM:615355 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... |
ORPHA:137888 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum |
ORPHA:438178 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... |
ORPHA:3473 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... |
ORPHA:244 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Dental Anomalies And Short Stature |
|
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Atrial septal defect, Single coronary artery origin, Craniofacial asym... |
ORPHA:1708 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Short n... |
OMIM:114620 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... |
OMIM:612561 |
Stickler Syndrome Type 1 |
|
Short nose, Hypoplasia of the maxilla, Long philtrum, Cleft palate |
ORPHA:90653 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy |
OMIM:249270 |
Lowry-Maclean Syndrome |
|
Coarctation of aorta, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Atriove... |
ORPHA:2409 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... |
ORPHA:2847 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Stroke |
ORPHA:49827 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed eruption of teeth, Short... |
ORPHA:166272 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Broad nasal tip, Bifid nose, Bifid nasal tip, Hypoplastic frontal sinuses, H... |
OMIM:136760 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta, Patent... |
OMIM:618454 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Long philtrum, Short nose, Anteverted nares, Broad philtrum, Wide nasal bridge |
OMIM:618577 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth... |
OMIM:618737 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Convex nasal ridge, Cleft palate, Micrognathia, Enamel hypoplas... |
OMIM:210600 |
Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Low hanging columella, Depressed nasal bridge, Short philtrum, Long phil... |
OMIM:617752 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Slender nose, Micrognathia, Short nose, Thin upper lip vermilion, Smooth philtrum |
OMIM:615419 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Short philtrum, Microretrognathia, Wide nasal bridge |
OMIM:613603 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Dental malocclusion, Narrow mouth, Convex nasal ridge, Cleft palate, Micrognathia, A... |
ORPHA:251028 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Long nose |
OMIM:601095 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus, Broad n... |
OMIM:300963 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Bulbous nose, Short philtrum, Hypoplasia of the maxilla |
ORPHA:93945 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:614114 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Depressed nasal bridge, Micrognathia, Short nose, Median cleft lip, Microglossia |
OMIM:241800 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta, Nat... |
OMIM:300867 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Long phi... |
ORPHA:884 |
Alg3-Cdg |
|
Macroglossia, Coarctation of the descending aortic arch, Neural tube defect, Arthrogryposis multi... |
ORPHA:79321 |
Shashi-Pena Syndrome |
|
Atrial septal defect |
OMIM:617190 |
Pierpont Syndrome |
|
Prominent median palatal raphe, Malar flattening, Everted lower lip vermilion, Thin vermilion bor... |
OMIM:602342 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Wide anterior fontanel, Malar flattening, Micrognathia, Downtur... |
OMIM:615546 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Malar flattening |
OMIM:602849 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal palate morphology, Thin vermilion border, Carious teeth, Deep philtrum, Short nose, Ante... |
ORPHA:2701 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Cleft palate, Micrognathia, Short nose, Intrauterine growth... |
ORPHA:2145 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
Acrootoocular Syndrome |
|
Dental malocclusion, Anodontia, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... |
ORPHA:2980 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:616367 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Infantile hypercalcemia, Common atrium |
ORPHA:96168 |
Edinburgh Malformation Syndrome |
|
Narrow mouth, Thin vermilion border, Micrognathia, Downturned corners of mouth, Short nose, Choan... |
ORPHA:1895 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Macroglossia, Delayed eruption of teeth, Tetralogy of Fallot, Advanced eru... |
ORPHA:261494 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect, Patent ductus arteriosus, C... |
OMIM:613870 |
Van Maldergem Syndrome 1 |
|
High palate, Dental malocclusion, Wide anterior fontanel, Malar flattening, Micrognathia, Downtur... |
OMIM:601390 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Short nose, Intrauterine growth retardation, Narrow mouth |
ORPHA:2370 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Microretrognathia, Wide nasal bridge, Carious teeth |
OMIM:615560 |
Atrial Septal Defect, Ostium Secundum Type |
|
Abnormal mitral valve morphology, Right atrial enlargement, Stroke, Transient ischemic attack, Ri... |
ORPHA:99103 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Malar flattening, Depressed nasal bridge, Short nose, Anteverted nares, Mandibular prognathia, In... |
OMIM:614613 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, ... |
OMIM:615474 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... |
OMIM:190350 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Delayed eruption of teeth, Spina bifida occulta, Coarctation of aorta, Fac... |
ORPHA:2780 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Short philtrum, Downturned corners of mouth, Short nose, Anteverted nares |
OMIM:613443 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta, Ethmoidal encephalocele |
ORPHA:280195 |
Autosomal Dominant Omodysplasia |
|
Malar flattening, Depressed nasal bridge, Micrognathia, Long philtrum, Short nose |
ORPHA:93328 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta, Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, Cardiome... |
OMIM:614921 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Short nose, Mandibular prognathia, Depressed nasal ridge |
ORPHA:2831 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Short neck, Coarctation of aorta, Patent ductus arteriosus, Transient ische... |
OMIM:600268 |
Achondrogenesis |
|
Anteverted nares, Micrognathia, Short nose, Long philtrum |
ORPHA:932 |
Cleft Velum |
|
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate |
ORPHA:99772 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Sclerosteosis 1 |
|
Dental malocclusion, Tooth malposition, Malar flattening, Depressed nasal bridge, Facial palsy se... |
OMIM:269500 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Intrinsic hand muscle atrophy, Muscular ventricular septal defect |
OMIM:618569 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Short nose, Malar flattening |
OMIM:614524 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Micrognathia, Short nose, Thin upper lip vermilion |
OMIM:615042 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Short neck, Coarct... |
OMIM:617506 |
Dentinogenesis Imperfecta |
|
Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of ... |
ORPHA:49042 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery ... |
ORPHA:1692 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Polysyndactyly With Cardiac Malformation |
|