Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
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 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, Patent ductus arteriosu... |
ORPHA:3304 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement |
OMIM:115210 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... |
ORPHA:1110 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala... |
OMIM:617022 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac septum morpholog... |
ORPHA:294975 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo... |
ORPHA:477817 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short toe, Pierre-Robin sequence, An... |
OMIM:617877 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... |
ORPHA:324604 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... |
OMIM:179613 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... |
ORPHA:353 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong... |
OMIM:615731 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin lower lip v... |
ORPHA:363444 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft p... |
ORPHA:1166 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... |
ORPHA:206546 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery f... |
ORPHA:2326 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... |
OMIM:612561 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement |
OMIM:614022 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve... |
ORPHA:1919 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Atrial septal defect, Patent ... |
OMIM:614261 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen... |
OMIM:619657 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... |
OMIM:265380 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, narrow palate, Deep phil... |
OMIM:158170 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Diabetes mellitus, Ragged-red muscle fibers, Stroke-like episode, Myopathy, Left ventricular hype... |
OMIM:540000 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ... |
OMIM:601186 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar... |
ORPHA:261120 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Retrognathia, Skeletal muscle hyp... |
OMIM:300280 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricu... |
OMIM:608104 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Abnormal palate morpho... |
ORPHA:1277 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... |
OMIM:618205 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor... |
OMIM:205400 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen oval... |
OMIM:600001 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft |
ORPHA:3434 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... |
ORPHA:251076 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular ao... |
OMIM:217085 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Scimitar Syndrome |
|
Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleeding, Left ventricular hypertrophy, Volvu... |
ORPHA:335 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum |
OMIM:611867 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... |
OMIM:249670 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, High, narrow palate, Cleft palate, Abnormal aortic morph... |
ORPHA:2516 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr... |
ORPHA:1388 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Tetrasomy 15Q26 |
|
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly,... |
OMIM:614846 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus... |
OMIM:613156 |
Tetralogy Of Fallot |
|
Cryptorchidism, Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:615355 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:608751 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Paten... |
OMIM:616028 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Cantu Syndrome |
|
Bicuspid aortic valve, Short hallux, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus... |
OMIM:239850 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Hepatosplenomegaly, Bile duct... |
OMIM:267010 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... |
OMIM:608227 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Coarctati... |
ORPHA:2209 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... |
OMIM:618021 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... |
OMIM:618316 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cong... |
ORPHA:2059 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, High, narrow palate, Narrow palate, Type 1 muscle fiber predominance, Increased ... |
OMIM:612949 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,... |
OMIM:615524 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d... |
OMIM:619343 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Atrial septal defect, Ar... |
OMIM:208085 |
Pituitary Gigantism |
|
Mandibular prognathia, Elevated circulating growth hormone concentration, Increased circulating i... |
ORPHA:99725 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... |
OMIM:619142 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... |
ORPHA:2001 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Adre... |
OMIM:613177 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abse... |
ORPHA:3186 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... |
OMIM:616652 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy |
OMIM:613838 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial... |
ORPHA:1913 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es... |
OMIM:101200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Prominent pa... |
ORPHA:280633 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Diaphragmatic eventration, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis multiplex... |
OMIM:613404 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Endocardial Fibroelastosis |
|
Micrognathia, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardiomyopathy, Anterior hy... |
ORPHA:2022 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... |
ORPHA:449400 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bord... |
OMIM:615502 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atri... |
OMIM:603387 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... |
OMIM:270100 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... |
OMIM:309801 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis |
OMIM:613873 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shor... |
OMIM:249710 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... |
OMIM:608758 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition |
ORPHA:276422 |
Autosomal Recessive Amelia |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum mor... |
ORPHA:1027 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... |
ORPHA:2863 |
Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy |
ORPHA:70589 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... |
OMIM:612946 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Protruding tongue, Secundum atrial septal defect, Splenome... |
OMIM:608779 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Protruding tongue, Diastema, Absent frontal sin... |
OMIM:301040 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... |
OMIM:241310 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614654 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm |
ORPHA:79094 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... |
OMIM:620210 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall... |
ORPHA:1926 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplastic aortic arch, Coarcta... |
ORPHA:2876 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn... |
ORPHA:98915 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... |
OMIM:301043 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, High palate, Aortic... |
OMIM:616166 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... |
OMIM:612541 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... |
ORPHA:1923 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... |
ORPHA:3208 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short thumb, Cryptor... |
ORPHA:401935 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Perimembranous ventricular se... |
OMIM:618651 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... |
OMIM:214800 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Rhizomelia, Micrognathia, Cryptorchidism, Thrombocytopenia, Pierre-Robi... |
OMIM:611209 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... |
OMIM:615418 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short palm, Microretrognathia, Bicuspid aortic v... |
ORPHA:508498 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Preductal coarctation of the aorta, Short ribs, Malar flattening |
OMIM:215045 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Down Syndrome |
|
Short palm, Atrial septal defect, Atrioventricular canal defect, Hypothyroidism, Patent foramen o... |
OMIM:190685 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... |
ORPHA:466791 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Mitral valve prolapse, Aortic root aneurysm, Hi... |
ORPHA:230851 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Abnormal jugular vein morphology, Right ventricular hypertrophy |
ORPHA:275766 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... |
OMIM:616920 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Macroglossia, Car... |
ORPHA:79321 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Hypoplasia o... |
OMIM:214110 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism... |
ORPHA:90065 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa... |
ORPHA:371428 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Congenital diaphragmatic ... |
OMIM:245600 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... |
OMIM:612776 |
Monosomy 18Q |
|
Mandibular prognathia, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic... |
ORPHA:1600 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... |
OMIM:188400 |
Transaldolase Deficiency |
|
Thrombocytopenia, Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, Atrial sep... |
ORPHA:101028 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
German Syndrome |
|
Camptodactyly of finger, Micrognathia, Cryptorchidism, Orofacial cleft, Abnormal cardiac septum m... |
ORPHA:2077 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Micrognathia, Cryptorchi... |
OMIM:300712 |
Distal Triplication 15Q |
|
Micrognathia, Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Abnormal he... |
ORPHA:314588 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Diastema, Open bite, Widely spaced teeth, Long philtrum, Left ventri... |
OMIM:619698 |
Vici Syndrome |
|
Lymphopenia, Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Dilate... |
OMIM:242840 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat... |
ORPHA:563 |
Cln3 Disease |
|
Left ventricular hypertrophy, Vacuolated lymphocytes, Increased circulating androgen concentration |
ORPHA:228346 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Short thumb, Patent ductus arteriosus, Hypoplasia of t... |
ORPHA:1972 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... |
ORPHA:513456 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... |
OMIM:180849 |
Thomas Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Abn... |
ORPHA:861 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Dent... |
ORPHA:284984 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Widely spaced teeth, High palate, Atr... |
OMIM:612474 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, C... |
OMIM:264480 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Apparent Mineralocorticoid Excess |
|
Stroke, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Decreased circul... |
ORPHA:320 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Megarectum, Leukopenia, Hypodontia, Pulm... |
OMIM:301056 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Gas... |
ORPHA:84064 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Retrognathia, Hepatosplenomegaly, Hydrocele testis,... |
ORPHA:79330 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Dou... |
OMIM:614886 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper... |
OMIM:612782 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Micrognathia, Mitral valve prolapse, High palat... |
ORPHA:228410 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy... |
OMIM:615959 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Micrognath... |
OMIM:300855 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Short palm, Atrial septal defect, Exagger... |
OMIM:312870 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Thyroi... |
OMIM:620186 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Micrognathia, High palate, Pa... |
OMIM:619699 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, A... |
OMIM:164280 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... |
OMIM:300400 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... |
OMIM:619167 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory sp... |
OMIM:618280 |
Bamforth-Lazarus Syndrome |
|
Cleft palate |
OMIM:241850 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th... |
OMIM:608572 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ... |
ORPHA:904 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, P... |
OMIM:613610 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2255 |
Fabry Disease |
|
Transient ischemic attack, Ventricular septal hypertrophy, Delayed puberty, Left ventricular hype... |
OMIM:301500 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha... |
ORPHA:391641 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus arteriosus |
OMIM:616589 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial s... |
ORPHA:567 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
ORPHA:392 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... |
OMIM:613680 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Right ventricular hypertrophy |
ORPHA:217563 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Hepatomegaly, Cleft lip, Pulmonary artery stenosis, Acute ly... |
OMIM:280000 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defe... |
ORPHA:435638 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pulmonar... |
ORPHA:251071 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, High, na... |
ORPHA:91387 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down... |
ORPHA:217017 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Crypto... |
OMIM:617506 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Frank-Ter Haar Syndrome |
|
Short palm, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Secundum atrial se... |
OMIM:249420 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Absent pulm... |
OMIM:600460 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ... |
OMIM:612938 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra... |
OMIM:267000 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Deep philtrum, Patent ductus... |
OMIM:606003 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, Double outlet... |
ORPHA:163956 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip |
OMIM:601349 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficien... |
ORPHA:1667 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus ... |
OMIM:601005 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Cry... |
OMIM:617516 |
Distal Deletion 12Q |
|
Median cleft lip, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... |
OMIM:300166 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Difficu... |
ORPHA:308552 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... |
OMIM:616789 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Hamamy Syndrome |
|
Hypoparathyroidism, Thin upper lip vermilion, Micrognathia, Microcytic anemia, Complete atriovent... |
OMIM:611174 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Small hand, Cleft palate... |
OMIM:619980 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Narrow mouth, Patent... |
ORPHA:2962 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop... |
ORPHA:746 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Perimembranous ventricular septal defect, High palate, Polycythemia |
OMIM:606812 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Abnormal heart morphology, Small thenar eminence, Sh... |
OMIM:239800 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Cont... |
ORPHA:83617 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th... |
OMIM:612289 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... |
OMIM:615102 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Mediastinal lymphadenopathy, Vasculitis, Aortic dissection, Glo... |
ORPHA:397 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, Cryptorchidism, Pa... |
ORPHA:452 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Double aortic arch, Splenomegaly, Trismus, Thrombocytopenia, Anemia |
OMIM:230900 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Short thumb, Patent ductus arteriosus, An... |
ORPHA:1120 |
Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Comp... |
OMIM:617925 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper lip, Hypoplasia of the m... |
OMIM:164210 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Cleft palate, Lobulated tongue, Camptodactyly, Retrognathia |
OMIM:614815 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... |
OMIM:614816 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Dental crowding, Aganglionic megacolon, Nephrogenic... |
OMIM:209900 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmo... |
OMIM:619123 |
Bamforth-Lazarus Syndrome |
|
Cleft palate |
ORPHA:1226 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hemolytic anemia, Pericardial effusion, Hepatosplenomegaly, Lower lim... |
OMIM:619487 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Scapular winging, Bicuspid ao... |
OMIM:150230 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Facial palsy, Micrognathia, High, narrow palate, Facial hyperostosis, ... |
ORPHA:2780 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Dental crowding, Intestinal malrotation, Congenital diaphragmatic hern... |
OMIM:617602 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent d... |
ORPHA:163979 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... |
ORPHA:476126 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Micrognathia, Intra-oral hyper... |
OMIM:619127 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Short foot, Abnormal cardiac septum morphology, High pa... |
ORPHA:250989 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great a... |
OMIM:619995 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Micrognathia, High, narrow pa... |
ORPHA:2409 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr... |
OMIM:202650 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Retrognathia |
ORPHA:52055 |
Acrocardiofacial Syndrome |
|
Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft upper... |
ORPHA:2008 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot... |
ORPHA:353281 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... |
ORPHA:3320 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Enlarg... |
OMIM:314390 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,... |
OMIM:146510 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Arterial tortuos... |
OMIM:609192 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar... |
ORPHA:99106 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Morg... |
OMIM:613309 |
Aase-Smith Syndrome I |
|
Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Persistence of primary teeth, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:201000 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Gingival overgr... |
ORPHA:576 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... |
ORPHA:2328 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy |
OMIM:618321 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ... |
ORPHA:2331 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphang... |
OMIM:235255 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Carious teeth, Cleft palate, Everted lower lip vermilion, Hypogonadism, Tetralogy o... |
ORPHA:2316 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic... |
OMIM:106260 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpo... |
OMIM:313850 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmatic hernia, Hiatus herni... |
OMIM:208050 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... |
ORPHA:2969 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Quadriceps muscle weakness, Dilated car... |
ORPHA:254892 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Primary Pulmonary Hypoplasia |
|
Abnormal hemidiaphragm morphology, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cle... |
ORPHA:2257 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Enlarged Parietal Foramina |
|
Cleft lip, Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... |
ORPHA:141127 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto... |
OMIM:605275 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft... |
ORPHA:563609 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hepatomegaly, Short femur, Short humerus, Patent ductus arteriosus, Flex... |
ORPHA:17 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... |
OMIM:614294 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... |
OMIM:153400 |
Chime Syndrome |
|
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... |
ORPHA:3474 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Fabry Disease |
|
Abnormal endocardium morphology, Transient ischemic attack, Malabsorption, Thick lower lip vermil... |
ORPHA:324 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Micromelia, Cleft maxillary alveolar ridge, Atrioventricular canal d... |
ORPHA:508488 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Hepatomegaly, Mandibular prognathia, Short distal phalanx of toe, Aort... |
OMIM:135500 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Cryptorchidi... |
OMIM:610253 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Cleft lip, Patent ductus arteri... |
OMIM:616894 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Downturned corners o... |
ORPHA:96147 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f... |
ORPHA:353277 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Absent thumb, Short thumb, Patent du... |
OMIM:147750 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Maternal diabetes, Short thumb, Patent ... |
ORPHA:1708 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Decreased response to growth ... |
ORPHA:1896 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi... |
ORPHA:79500 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... |
OMIM:301022 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coar... |
ORPHA:3338 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, ... |
OMIM:615582 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... |
ORPHA:1507 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Narr... |
OMIM:619268 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Micrognathia, Aortic valve atresia, Coarctation of aorta, ... |
OMIM:220111 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Chapped lip, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Missing ribs, Delayed menarche, Complete atrioventricula... |
OMIM:151100 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Maternal diabetes, Panhypopituitarism, Orofacial cleft, Cleft palate,... |
ORPHA:280200 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... |
ORPHA:3310 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Anal stenosis, Short humerus, Ventricular septal defect, Clef... |
OMIM:117650 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventri... |
OMIM:617063 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Pe... |
ORPHA:97360 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutropenia, Atria... |
OMIM:105650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narrow mouth, Atrial se... |
ORPHA:1790 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a... |
ORPHA:2396 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Patent foramen ... |
ORPHA:2745 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... |
ORPHA:2751 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Short humerus, Short femur, Prominent scalp veins, Microg... |
OMIM:264090 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora... |
OMIM:602450 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu... |
ORPHA:268249 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Mi... |
OMIM:620025 |
Charge Syndrome |
|
Delayed eruption of teeth, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Facial palsy, Cle... |
ORPHA:138 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
Faciocardiorenal Syndrome |
|
Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo... |
ORPHA:1973 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... |
ORPHA:124 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Camptodactyly of finger, Micro... |
ORPHA:3047 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Dental crowding, Micrognathia, Hiatus hernia, Vertebral artery tortuo... |
OMIM:619329 |
Meester-Loeys Syndrome |
|
Aortic dissection, Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, ... |
OMIM:300989 |
Distal Deletion 19P |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... |
ORPHA:96129 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventri... |
OMIM:236680 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Micrognathia, Arterial tortuosity, Patent ductus arteriosus, Orofacial c... |
ORPHA:60030 |
Ataxia-Telangiectasia |
|
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... |
OMIM:208900 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Rhabdomyosarcoma, Micrognathia, Cleft palate, Coarctation of aorta, Acute l... |
ORPHA:1052 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar... |
OMIM:100300 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Small hand, Cleft ... |
ORPHA:85276 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Hypoplastic aortic arch, Facial hypotonia |
ORPHA:457284 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Paten... |
OMIM:617088 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures of the lar... |
ORPHA:96123 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Ventric... |
OMIM:134780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Anal atresia |
OMIM:617666 |
Fanconi Anemia |
|
Micrognathia, Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu... |
ORPHA:84 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, ... |
OMIM:619036 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Cle... |
OMIM:615948 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Micrognathia, Aplasia of the epiglottis, High palate, Short tibia, Bifid uvula, Microretrognathia... |
OMIM:268305 |
Oculopalatocerebral Syndrome |
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Cleft palate |
OMIM:257910 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dental morphology,... |
ORPHA:217085 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Pectoral muscle hypoplasia/apla... |
ORPHA:306542 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... |
OMIM:154500 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dental morphology,... |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
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Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Restrictive Dermopathy |
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Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Dextrocardia, Camp... |
ORPHA:1662 |
Pagod Syndrome |
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Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen, Pulmonary art... |
ORPHA:991 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli... |
OMIM:235730 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Bicuspid aortic valve, Micrognathia, High, narrow palate, Inflammation of the large intestine, Hi... |
ORPHA:99413 |
Turner Syndrome |
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Bicuspid aortic valve, Micrognathia, High, narrow palate, Inflammation of the large intestine, Hi... |
ORPHA:881 |
Mosaic Monosomy X |
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Bicuspid aortic valve, Micrognathia, High, narrow palate, Inflammation of the large intestine, Hi... |
ORPHA:99228 |
Monosomy X |
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Bicuspid aortic valve, Micrognathia, High, narrow palate, Inflammation of the large intestine, Hi... |
ORPHA:99226 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Sinusitis, Severe B lympho... |
OMIM:102700 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Micromelia, Cleft upper lip, Swollen lip, Micrognathia, Patent ductus ... |
OMIM:256520 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroidit... |
ORPHA:83471 |
Carpenter Syndrome 2 |
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Dextrocardia, Supernumerary nipple, Situs inversus totalis, High, narrow palate, Carious teeth, P... |
OMIM:614976 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger,... |
ORPHA:1606 |
Vater/Vacterl Association |
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Ventricular septal defect, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radi... |
OMIM:192350 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Flexi... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Flexi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Flexi... |
ORPHA:261552 |
Proteus Syndrome |
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Decreased muscle mass, Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm... |
ORPHA:744 |