Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral fren... |
ORPHA:79113 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus |
ORPHA:2516 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Micrognathia, Cleft lip, Sensorineural hearing impairment... |
OMIM:301022 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... |
ORPHA:229 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P... |
ORPHA:3304 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Con... |
ORPHA:861 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... |
OMIM:192430 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno... |
ORPHA:2549 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Polyhydramnios, Wide anter... |
OMIM:616920 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Anterior creases of earlobe, Hypoplastic l... |
ORPHA:1727 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Micrognathia, Downturned corners of mouth, Atrial septal defect, ... |
OMIM:620186 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Fetal akinesia sequence,... |
OMIM:617022 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Microgna... |
ORPHA:3047 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Carious teeth, Cleft palate, Protruding ear, Multiple cafe-au-lait spots, Microtia,... |
ORPHA:2316 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... |
OMIM:214800 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypopla... |
OMIM:106260 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Downturned corners ... |
OMIM:601808 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated l... |
OMIM:269920 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Posteriorly rotated ears, Ventricular septal defect, Dental crowding, ... |
ORPHA:2789 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hy... |
OMIM:253250 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abno... |
OMIM:179613 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Micrognathia, Atrial sep... |
OMIM:265380 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Death in infancy, Hepatomegaly, Nonimmune hydrops fetalis, Micrognathia, Splenomegaly, Cardiomyop... |
OMIM:608540 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Vertebrobasilar dolichoectasia... |
ORPHA:521445 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Microtia, Atresia of the ... |
OMIM:239800 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Lambotte Syndrome |
|
Ventricular septal defect, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ma... |
OMIM:245552 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Abnormal pinna morphology, Pericardial effusion, Cryptorchidism, Perian... |
OMIM:614684 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... |
ORPHA:2306 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hyperpigmented ... |
ORPHA:2980 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, In... |
ORPHA:2166 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Stapes ankylosis, Delayed eruption of teeth, Papilledema, Dental crowding,... |
OMIM:614188 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Edema, Thyroid defect in oxidation and organifica... |
ORPHA:226316 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ... |
ORPHA:3429 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Death in infancy, Decreased fetal ... |
ORPHA:85212 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism, Sensor... |
ORPHA:3378 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... |
ORPHA:3236 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... |
OMIM:300946 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... |
OMIM:619981 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Pate... |
OMIM:612562 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Patent ductus arteri... |
ORPHA:2328 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,... |
OMIM:610536 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Fe... |
OMIM:619503 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormality of the philtrum, Non-mi... |
ORPHA:1770 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Anteriorly placed anus, Atresia of ... |
ORPHA:1488 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Patent duct... |
OMIM:613309 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Edema, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:90673 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Heterochromia iridis, Hypergonadotropic hypogonadism, Abnormality of the middle... |
ORPHA:90646 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Micrognathia,... |
ORPHA:1388 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Wide mou... |
OMIM:608776 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Decreased fetal movement, Polyhydramnios, Micrognathia, Pericardial effusion, C... |
OMIM:620070 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Hydrops fetalis, Orofacial cleft, Coarctation of aorta, ... |
ORPHA:268249 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Micrognathia, Hydrops fetalis, Stillbirth, Preduc... |
OMIM:215045 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... |
OMIM:235510 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath... |
ORPHA:261120 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:615546 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, High palate, Atresia of the external auditory cana... |
ORPHA:2792 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Micrognathia, ... |
OMIM:616897 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Posteriorly rotated ears, Underfolded helix, Parachute mitral valve, Ve... |
OMIM:618316 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Abnormal heart morphology, Parathyroid hypop... |
ORPHA:2237 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent... |
OMIM:164280 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal, Abno... |
OMIM:221320 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Atresia of the external auditory canal |
OMIM:209770 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hearing impairment, Micrognathia, Cleft upper lip, Adrenal hypoplasia, Stillbirth, Abnormal cardi... |
OMIM:308050 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Edema, Polyhydramn... |
OMIM:267000 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor... |
ORPHA:101028 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood |
OMIM:256150 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:672 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... |
ORPHA:245 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:300712 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction... |
OMIM:243180 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Sensorineural hea... |
OMIM:256550 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetali... |
OMIM:618815 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... |
ORPHA:295 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... |
OMIM:601390 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal vascular morphology, Abnormality of the tongue, Reduced left ven... |
ORPHA:314652 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Facial edema, Decreased circulating T4 concentration... |
ORPHA:90674 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Cleft upper lip, Cr... |
ORPHA:261236 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... |
OMIM:614669 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Cleft palate, Anhydramnios, Low-set ears, Enlarged kidney |
OMIM:613885 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Cryptorchidism, High palate, Atresia of the external auditory canal, Narrow mouth, ... |
OMIM:602471 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:225250 |
Trisomy 1Q |
|
Microretrognathia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arter... |
ORPHA:261344 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Bicuspid aortic valve, Anemia of inadequate production, Bone marrow hypoc... |
OMIM:614900 |
Charge Syndrome |
|
Polyhydramnios, Hypoplasia of the semicircular canal, Iris coloboma, Low-set, posteriorly rotated... |
ORPHA:138 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Down Syndrome |
|
Prenatal double bubble sign, Atrial septal defect, Conductive hearing impairment, Atrioventricula... |
OMIM:190685 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Micrognathia, Pericardial effusion, Optic atrophy, Cardiomyopathy, High palate, Bilateral sensori... |
OMIM:620089 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Ventricular septal defect, Posteriorly rotated ears, Patent ductus arte... |
OMIM:619717 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct... |
OMIM:618164 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Optic atrophy, High palate, At... |
OMIM:123500 |
Fetal Akinesia Deformation Sequence 4 |
|
Decreased fetal movement, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Cryptorchidism,... |
OMIM:618393 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Optic nerve hy... |
OMIM:301056 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Median cleft lip... |
ORPHA:2213 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... |
ORPHA:2010 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... |
ORPHA:1041 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Cleft u... |
OMIM:154400 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Protruding ear, Tooth agen... |
ORPHA:1166 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot |
ORPHA:217 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Lymphatic Malformation 6 |
|
Edema, Lymphedema, Facial edema, Polyhydramnios, Periorbital edema, Micrognathia, Atrial septal d... |
OMIM:616843 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular dilatation, ... |
ORPHA:79328 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Ventricular septal defect, Premature birth, Splenomegaly, Patent ductus ar... |
ORPHA:354 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar... |
ORPHA:3405 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormal cardiac sept... |
ORPHA:250989 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t... |
OMIM:609029 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... |
ORPHA:2136 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cr... |
OMIM:101200 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Cardiomegaly, Micrognathia, Neonatal death, Hepatomegaly, Premature birth, Nonimm... |
OMIM:608013 |
Atelis Syndrome 1 |
|
Glue ear, Ventricular septal defect, Carious teeth, Anemia, Leukopenia, Microtia, High palate, Lo... |
OMIM:620184 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
ORPHA:163979 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic an... |
ORPHA:90308 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Breech presenta... |
OMIM:615731 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Micrognathia, Cleft upper lip, Cryptor... |
OMIM:616145 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal |
OMIM:133705 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Atresia of the external auditory canal |
OMIM:601356 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... |
OMIM:154500 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... |
OMIM:614702 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Miscarriage, Micrognathia, Cryptorchidism, Hydrops fetalis, Cleft palat... |
ORPHA:1865 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Esophageal atresia, Sensorineural hearing impa... |
ORPHA:391641 |
Thyroid Hypoplasia |
|
Macroglossia, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Sensorineural ... |
ORPHA:36412 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Wide anterior fontanel, Hydrops fetalis, Cleft palate, Stillbirth, Low... |
OMIM:228520 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... |
OMIM:301018 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites, Hearing impairment |
ORPHA:87876 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Mi... |
ORPHA:904 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis... |
OMIM:619433 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, My... |
ORPHA:798 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atresia of... |
ORPHA:1393 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Mala... |
ORPHA:1919 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Aspleni... |
ORPHA:99776 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Cleft palate, Anteri... |
OMIM:309801 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gallbladder, Atrial septa... |
ORPHA:2255 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... |
ORPHA:51608 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Crypto... |
ORPHA:2554 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... |
OMIM:608257 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Death in infancy, Villous atrophy, Nonimmune hydrops fetalis, Edema, ... |
OMIM:212065 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... |
ORPHA:79329 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Patent ductus arterios... |
ORPHA:96170 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Posteriorly rotated ears, Optic atrophy, Gingival overgrowth, Narrow palate, Anterio... |
OMIM:123790 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardi... |
OMIM:620167 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, High, narrow palate, Dilated card... |
ORPHA:2515 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Diabetes mellitus, Carotid artery stenosis, Micrognathia, Pericardial effusion, Crypt... |
ORPHA:536532 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia,... |
ORPHA:2123 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Breast aplasia, Hypoplastic nip... |
ORPHA:1231 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Asplenia, Situs inve... |
ORPHA:244 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramni... |
ORPHA:79500 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Alg8-Cdg |
|
Premature birth, Edema, Thrombocytopenia, Optic atrophy, Hydrops fetalis, Macroglossia, Low-set e... |
ORPHA:79325 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Elevated ci... |
OMIM:618183 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Alkuraya-Kucinskas Syndrome |
|
Posteriorly rotated ears, Edema, Micrognathia, Pericardial effusion, High palate, Low-set ears, P... |
OMIM:617822 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Median cleft lip, Orofacial cleft, Atresia of the external ... |
ORPHA:3186 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Microt... |
OMIM:141300 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the endocrine system, Coarctation of the descending aor... |
ORPHA:79321 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum |
ORPHA:932 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... |
OMIM:306955 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Patent duc... |
OMIM:606003 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Coxoauricular Syndrome |
|
Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Narrow mouth, Breech p... |
OMIM:224690 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Esophageal varix, Hydrops f... |
OMIM:232500 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Ventricular septal defect, Thick lower lip ver... |
OMIM:612946 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Decreased fetal movement, Posteriorly rotated ears, Anterior pituitary hypop... |
ORPHA:264200 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, High p... |
ORPHA:2059 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an... |
ORPHA:261330 |
Brooke-Spiegler Syndrome |
|
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the subl... |
ORPHA:79493 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Hepatomegaly, Abnormal EKG, ... |
ORPHA:85443 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum |
ORPHA:93298 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Prominence of the premaxilla, Wide anterior fontanel, Patent ductus art... |
OMIM:614886 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Delayed... |
OMIM:618506 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Senso... |
OMIM:618652 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Mediastinal lymphad... |
ORPHA:397 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum |
ORPHA:93299 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Abnormality of skin pigmentation, Downturned corne... |
OMIM:300868 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta |
OMIM:616069 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Secundum atrial septal defect,... |
OMIM:249420 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... |
ORPHA:45452 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of skin pigmentation, Ascites, Iris hypo... |
ORPHA:834 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Fetal peric... |
OMIM:620244 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele test... |
OMIM:616738 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Hyperpigmentation of the skin, Edema, Pericardial effusion, Hypot... |
ORPHA:2905 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... |
ORPHA:292 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar... |
OMIM:602483 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,... |
OMIM:618280 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Malar flattening |
OMIM:600972 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Ascending aortic dissection |
OMIM:620080 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft... |
ORPHA:1926 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, ... |
ORPHA:324410 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... |
ORPHA:1913 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo... |
OMIM:618775 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defe... |
OMIM:618494 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hydrops fetalis, Polyhydramnios, Hepatomegaly |
ORPHA:2204 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... |
OMIM:300280 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,... |
OMIM:139210 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Macrotia, Cardiomegaly |
OMIM:613576 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Abnormal ... |
ORPHA:79255 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the mi... |
OMIM:130720 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patchy hypo- and hyperpigmen... |
ORPHA:163956 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Cleft... |
OMIM:616898 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Spinal Muscular Atrophy, Type I |
|
Decreased fetal movement, Ventricular septal defect, Tongue fasciculations, Death in childhood, A... |
OMIM:253300 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Low-set ears, Chron... |
ORPHA:276422 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... |
OMIM:230500 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Premature birth, Micrognathia, Cupped ear, Conotruncal defect,... |
ORPHA:40366 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Facial palsy, Polyhydramnios, Hydrops fetalis, High palate |
OMIM:255320 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Cleft palate, High palate, Atresia of the external auditory canal, Low-se... |
ORPHA:93259 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Low 1-minut... |
ORPHA:1596 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... |
OMIM:618839 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Thickened ... |
OMIM:617506 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali... |
OMIM:618835 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Premature birth, Cardiomegaly, Lymphadenopathy... |
ORPHA:858 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment, Abnormal salivary gland morphology |
ORPHA:3225 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis, Hearing impairment |
ORPHA:477774 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... |
OMIM:615524 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Low-set ears... |
OMIM:619189 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hydro... |
OMIM:620014 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft |
ORPHA:3434 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Abnormality of skin pigmentation, Wide mouth, Microtia, Hypoplasia of ... |
ORPHA:920 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Patent ductus arteriosus, Sensorineural hearing impairment, Orofacial cleft, Coarct... |
ORPHA:17 |
Trisomy 8P |
|
Posteriorly rotated ears, Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis... |
ORPHA:264450 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Premature birth, Polyhydramnios, Micrognathia, Protruding tongue, Hydrops fetalis, C... |
ORPHA:50945 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cornelia De Lange Syndrome |
|
Micrognathia, Downturned corners of mouth, Widely spaced teeth, High palate, Atrial septal defect... |
ORPHA:199 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Iris coloboma, B... |
OMIM:300166 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, F... |
ORPHA:1387 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck |
OMIM:616559 |
Monosomy 9P |
|
Micrognathia, Abnormality of the dentition, Cryptorchidism, Narrow mouth, Cleft palate, Abnormal ... |
ORPHA:261112 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphang... |
OMIM:137940 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Short philtrum, Widely spaced teeth, Conductive hearing impairment, Hepatomegal... |
OMIM:280000 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent trag... |
OMIM:603457 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi... |
ORPHA:77259 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemor... |
ORPHA:79282 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Premature ... |
ORPHA:912 |
Tyshchenko Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Premat... |
OMIM:615102 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Posteriorly rotated ears, Pericardial effusion, Cryptorch... |
ORPHA:1272 |
Chromosome 5Q12 Deletion Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Incr... |
OMIM:615668 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... |
OMIM:612422 |
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 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis, Cleft palate, Low-set ears, Malar flattening |
ORPHA:85166 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Mic... |
OMIM:613610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cryptorchidism, Optic atrophy, Cleft palat... |
OMIM:236670 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Cardiomegaly, Micrognathia, High, narrow palate, Hydrops fetalis, Broad secondary... |
ORPHA:3472 |
Chédiak-Higashi Syndrome |
|
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... |
ORPHA:167 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Ventricular septal defect, Crypto... |
OMIM:618950 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormal pinna morphology, Dental crowding, Cleft upper lip,... |
OMIM:219000 |
Boomerang Dysplasia |
|
Cryptorchidism, Hydrops fetalis, Decreased response to growth hormone stimulation test, Polyhydra... |
ORPHA:1263 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Posteriorly rotated ears, Mitral stenosis, Ventricular septal de... |
OMIM:605275 |
Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus... |
OMIM:164210 |
Tarp Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Optic atrophy, ... |
OMIM:311900 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... |
OMIM:301043 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Dental crowding, Gingival overgrowth, Joint swelling, High palate, Atre... |
OMIM:618175 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormality of skin pigmentation, S... |
ORPHA:193 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Neutropenia,... |
ORPHA:699 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Fetal akinesia sequ... |
ORPHA:367 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... |
OMIM:618021 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:171881 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Atresia of the external auditor... |
OMIM:617666 |
Distal Triplication 15Q |
|
Micrognathia, Sensorineural hearing impairment, Cupped ear, Patent ductus arteriosus, Hypoplastic... |
ORPHA:314588 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... |
ORPHA:124 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... |
ORPHA:2396 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... |
ORPHA:529962 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Hy... |
OMIM:253220 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana... |
ORPHA:508498 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothy... |
OMIM:601005 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve ... |
ORPHA:7 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, A... |
OMIM:618838 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... |
ORPHA:846 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Hepatomegaly, Papilledema, Pe... |
ORPHA:580 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upper... |
OMIM:608572 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Long philtrum |
OMIM:200610 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conduct... |
ORPHA:398156 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilledema, Abnormal dental ... |
ORPHA:217085 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hemolytic anemia, Pericarditis, Edema, Portal hypertension, Pericardial effusion, O... |
OMIM:619487 |
Multiple Synostoses Syndrome 1 |
|
Stapes ankylosis, Thin upper lip vermilion, Asymmetry of the mouth, Progressive conductive hearin... |
OMIM:186500 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Raynaud phenomenon, Oral ulcer, Lymphadenopathy, Leukopenia, Ascites... |
ORPHA:93552 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Pleural effusion, Abn... |
ORPHA:90362 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment, Mitral valve prolapse, Dentinogenesis imperfecta, Aortic aneurysm |
OMIM:166200 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Lymphedema, Micrognathia, High palate, Protein-losing enteropathy, Hepatomegaly, ... |
OMIM:235255 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilledema, Abnormal dental ... |
ORPHA:217093 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effu... |
OMIM:615355 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short ph... |
ORPHA:567 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Asplenia, Situs inversus totalis, Narrow mouth, High palate, Hypodontia, Polyspleni... |
OMIM:612776 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:215140 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Retro... |
OMIM:618142 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Unilateral cryptorchidism,... |
OMIM:174300 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, Micrognathia,... |
OMIM:619472 |
Agnathia-Otocephaly Complex |
|
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... |
OMIM:202650 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia |
ORPHA:141152 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Sensorine... |
OMIM:612938 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... |
ORPHA:26793 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... |
ORPHA:261311 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Cleft upper ... |
OMIM:612561 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Generalized hyperpigmentation, Ven... |
ORPHA:3071 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... |
ORPHA:949 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Exaggerated cupid's bow, Cu... |
OMIM:618619 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... |
ORPHA:95716 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Macrotia, Cardiomegaly |
OMIM:300886 |
German Syndrome |
|
Lymphedema, Micrognathia, Hearing abnormality, Cryptorchidism, Orofacial cleft, Abnormal cardiac ... |
ORPHA:2077 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Decreased fetal movement, Tented upper lip vermilion, Dental crowding, Nonimmune hy... |
OMIM:620369 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... |
OMIM:618624 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Low-s... |
OMIM:618330 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal def... |
OMIM:618027 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Fair hair, Pulmonary edema, Inappropriate anti... |
ORPHA:79330 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... |
OMIM:240300 |
Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
ORPHA:1600 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
8P23.1 Microdeletion Syndrome |
|
Micrognathia, External ear malformation, Cryptorchidism, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:251071 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Branchial f... |
OMIM:113650 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Decreased fetal movement, Micrognathia, Cryptorchidism,... |
OMIM:265000 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... |
OMIM:613759 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Sensorineural hearing impairment, Cupped ea... |
ORPHA:52055 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... |
ORPHA:453499 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Micrognathia, Cryptorchidism, Protrud... |
ORPHA:2256 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Opt... |
ORPHA:1790 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
Congenital Myopathy 8 |
|
Congestive heart failure, High palate, Cardiomegaly |
OMIM:618654 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Short neck, Low posterior hairline, Mitral ... |
OMIM:618000 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Hypermelanotic macule, Hypoplasia of the cochlea, Cupped ear, Optic di... |
OMIM:613398 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Hypertrichotic hyperpigmente... |
OMIM:602782 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Posteriorly rotated ears, High palate, Broad alveolar ridges, Low-set ... |
OMIM:314320 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Ab... |
OMIM:200600 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upper lip, Cryptorchidism, P... |
ORPHA:96167 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Aortic root aneurysm, Atrial septal defect |
ORPHA:404443 |
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 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased nuchal translucenc... |
OMIM:616564 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... |
ORPHA:284169 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Campomelia, Cumming Type |
|
Hepatomegaly, Death in infancy, Lymphedema, Pancreatic cysts, Hydrops fetalis, Cleft palate, Abno... |
ORPHA:1318 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Sensorineural he... |
OMIM:220500 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplen... |
ORPHA:464329 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Polyhydramnios, Cardiomegaly, Subchorionic septal cyst, Posterior helix pi... |
ORPHA:116 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Cryptorchidism, Patent ductus art... |
ORPHA:3338 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micro... |
OMIM:309520 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Bilateral cryptorchidism, Sensorineural hear... |
OMIM:300472 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
Carpenter Syndrome 1 |
|
Atrial septal defect, Abnormal pinna morphology, Ventricular septal defect, Micrognathia, Hypopla... |
OMIM:201000 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent d... |
OMIM:613870 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Dental crowding,... |
OMIM:612582 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Senso... |
ORPHA:290 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
Noonan Syndrome 4 |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Crypto... |
OMIM:610733 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Down... |
ORPHA:369891 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Micrognathia, Hypoplasi... |
OMIM:608149 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... |
ORPHA:329224 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615108 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Cupped ear, Wide mouth, Single umbilical artery, High palate, Transposi... |
OMIM:617982 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Ventricular septal defect, Dental crowding, Micrognathia, C... |
OMIM:617201 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Abnormal pinna morphology, Ventricular septal defect, Cryptorchidism, R... |
OMIM:617452 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia |
ORPHA:231111 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Micrognathia, High, narrow palate, High palate, Death in childhood, Hepatomeg... |
OMIM:214100 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... |
ORPHA:508488 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... |
OMIM:613604 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... |
ORPHA:94066 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydr... |
OMIM:153100 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... |
OMIM:619980 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Wide anterior fontanel, Death in childhood, Pulmona... |
OMIM:619064 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he... |
ORPHA:49827 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Cardiomegaly, Deep philtrum, Hypertension, Microtia, Low-set ears, Death in chi... |
OMIM:613320 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Precocious puberty, Cryptorchidism,... |
ORPHA:3306 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... |
OMIM:249270 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impa... |
OMIM:214300 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-... |
OMIM:609654 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Dehydration, Central hypothyroidism, ... |
ORPHA:1667 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Micrognathia, Downturned corners of mouth, Short philtrum, Low-set ears |
ORPHA:93267 |
Solar Urticaria |
|
Edema, Periorbital edema, Vertigo, Abnormal tongue morphology, Angioedema, Abnormal lip morpholog... |
ORPHA:97230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Atrial septal defect, Microretrognathia, Dilation of Virchow-Robin spaces,... |
OMIM:300998 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Anal stenosis, Dental crowding, Cleft upper ... |
ORPHA:2052 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m... |
ORPHA:261494 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Cherry red spot of th... |
OMIM:256540 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Abnormal cranial nerve morphology, E... |
ORPHA:228399 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s... |
ORPHA:436003 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Agenesis of permanent teeth, ... |
OMIM:614091 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Natal tooth, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... |
ORPHA:166100 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Lymphadenopathy |
ORPHA:411703 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased fetal movement, Ventricular septal defect, Cryptorchidism, P... |
ORPHA:2962 |
Gitelman Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... |
ORPHA:358 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cryptorchidism... |
OMIM:611209 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... |
ORPHA:3261 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615109 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Lymphadenopathy, Hypertension, Peripheral edema, Reduced hematocrit, Pleura... |
ORPHA:79126 |
Filippi Syndrome |
|
Ventricular septal defect, Cryptorchidism, Optic atrophy, Thin vermilion border, Short philtrum, ... |
OMIM:272440 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan... |
ORPHA:2143 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Pigmentary retinopathy, Abnorm... |
OMIM:609015 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hea... |
ORPHA:500159 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Aortic root aneurysm, Mitral valve prolapse |
OMIM:130000 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Prot... |
OMIM:610253 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Pre... |
ORPHA:447980 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... |
ORPHA:404440 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, High palate, Ventricular septal defect, Broad secondary alveol... |
ORPHA:3369 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pulmon... |
ORPHA:276432 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Mediastinal lymphadenopathy, Diffuse alveolar he... |
ORPHA:199241 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myoc... |
ORPHA:158687 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly, Vertigo, Thick vermilion border, Hearing impairment |
ORPHA:3137 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... |
ORPHA:781 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... |
ORPHA:363618 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral va... |
OMIM:121050 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Aneurysm Of Sinus Of Valsalva |
|
Stroke, Dilatation of the sinus of Valsalva, Bacterial endocarditis |
ORPHA:1054 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Posteriorly rotated ears, Nonimmune hydrops fetalis, Polyhydramnios, Mi... |
OMIM:208150 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Abnormality of t... |
ORPHA:75389 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears,... |
OMIM:269860 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... |
ORPHA:353281 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Optic atrophy, Cleft pa... |
OMIM:614261 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Abnormal ear morphology, Ventricular septal defect, Premature birth, Materna... |
ORPHA:1708 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defect, ... |
OMIM:616651 |
Sotos Syndrome |
|
Mandibular prognathia, Atrial septal defect, Decreased fetal movement, Posteriorly rotated ears, ... |
OMIM:117550 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Polyhydramnios, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Low-... |
OMIM:616546 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal au... |
ORPHA:83601 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, High, narrow palate, Retrognathia, Low-set ears, Tetralogy of Fallot, Hearing i... |
OMIM:617926 |
King-Denborough Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, De... |
OMIM:619542 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... |
OMIM:620210 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatos... |
ORPHA:93400 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, n... |
ORPHA:435638 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Premature graying of hair, High... |
ORPHA:769 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent foramen ovale, Patent ductus arteriosus, Vascular... |
OMIM:180849 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... |
ORPHA:3282 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:608779 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Intestinal... |
OMIM:263520 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, High palate, Atrial septal defect, Hepatomegaly, Death in infancy, Tricuspid regurg... |
OMIM:614866 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... |
OMIM:618067 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu... |
OMIM:619312 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ed... |
OMIM:615846 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... |
OMIM:612474 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... |
ORPHA:97290 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Sensorineural hearing impairment, Retinal telangiectasia, Facial palsy, Tongue atrophy |
OMIM:158900 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hearing im... |
OMIM:616277 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Retrognathia, Aplasia/Hypopl... |
ORPHA:505237 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Nonimmune hydrops fetalis, Cleft palate, Micrognathia |
OMIM:618265 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular sept... |
OMIM:619343 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... |
OMIM:208050 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis, Abnormality of the dentition |
ORPHA:88618 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Protruding ear, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus |
ORPHA:2538 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Micrognathia, Simple ear, St... |
OMIM:617667 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Patent ductus... |
OMIM:617061 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Situs inversus totalis, Abnormal cranial nerve... |
ORPHA:990 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Diabetes mellitus, Ventricular septal defect, Micrognat... |
OMIM:270450 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... |
ORPHA:2847 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Micrognathia, Crypto... |
OMIM:616894 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Goiter, Hypoplasia of the maxilla, Thyroiditi... |
OMIM:158350 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... |
OMIM:608670 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... |
ORPHA:1507 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... |
ORPHA:457279 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Single umbilical ar... |
ORPHA:2772 |
Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Iris coloboma, Patent ductus arteriosus, Total anomalous pulm... |
OMIM:115470 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Natal tooth, Ventricular septal defect, Micrognathia, Low-set ears, Death in ch... |
OMIM:616901 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort... |
OMIM:600460 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Eso... |
OMIM:300514 |
Farber Disease |
|
CNS foam cells, Hydrops fetalis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Joint swelling, Che... |
ORPHA:333 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Cryptorchidism,... |
ORPHA:261250 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the ... |
ORPHA:2759 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... |
OMIM:607823 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Atrial septal defect, Ventricular septal defect, External ear malformation,... |
ORPHA:254346 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Persistence of primary teet... |
ORPHA:97360 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Ventricular septal defect, Decreased fetal movement |
OMIM:616816 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu... |
ORPHA:352665 |
Whistling Face Syndrome, Recessive Form |
|
Micrognathia, Trismus, Whistling appearance, High palate, Narrow mouth, Malar flattening, Microgl... |
OMIM:277720 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Thin upper lip vermilion, Ventricular septa... |
ORPHA:457193 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Lymphedema... |
OMIM:300855 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Generalized hyperpigmentation, Lymphedema, Malabsorption, Spl... |
ORPHA:2930 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Leukemia, Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Alstrom Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:203800 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairm... |
ORPHA:581 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Abnormal antihelix morphology, Thin vermilion border, Low-set ears, Lo... |
ORPHA:85194 |
Blau Syndrome |
|
Pericarditis, Hyperpigmentation of the skin, Facial palsy, Splenomegaly, Xerostomia, Large vessel... |
ORPHA:90340 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Thrombocytopenia, Cervical lymphadeno... |
ORPHA:50918 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, High palate, Thick... |
OMIM:620113 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Ventricular septal defect, Micrognathia... |
ORPHA:1908 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Micrognathia, Cryptorchidism... |
ORPHA:52 |
Orofaciodigital Syndrome Xix |
|
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Additional crus of ... |
OMIM:620107 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... |
ORPHA:652 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Uplifted earlobe, Cleft palate, Furrowed t... |
OMIM:616449 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Malar flattening |
OMIM:269250 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... |
ORPHA:137667 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent sinusitis, Calcifi... |
ORPHA:85202 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Sensorineural hearing impairment, Patent ductus... |
OMIM:617751 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Neurofibroma |
|
Melanocytic nevus, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestina... |
ORPHA:252183 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Micrognathia, Abnormality of the endocrine system, Cryptorchidism, Hea... |
ORPHA:166035 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Atrial septal defect, Decreased fetal movement, Posteriorly rotated ea... |
OMIM:157800 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Colitis, Cardiomegaly |
ORPHA:88643 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... |
OMIM:274300 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... |
ORPHA:1458 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Generalized hyperpigmentation, Ventricular septal defect, Abnormal den... |
ORPHA:1071 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Protruding tongue, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect,... |
ORPHA:96147 |
Phocomelia, Schinzel Type |
|
Micrognathia, Cryptorchidism, High, narrow palate, Hydrops fetalis, Tracheoesophageal fistula, Pr... |
ORPHA:2879 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Low-s... |
OMIM:619895 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Oligoh... |
OMIM:208085 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... |
OMIM:300963 |
Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Enlarged ovaries, Cryptorc... |
ORPHA:2745 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosis, Malar flat... |
OMIM:218350 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Pi... |
ORPHA:2886 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th... |
ORPHA:96334 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Ascites |
ORPHA:584 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge, Low-set ears |
OMIM:617127 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Pendred Syndrome |
|
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... |
ORPHA:705 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... |
OMIM:600791 |
Arterial Tortuosity Syndrome |
|
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... |
ORPHA:3342 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... |
ORPHA:513456 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Optic disc pallor, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... |
OMIM:618580 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... |
OMIM:610168 |
Koolen-De Vries Syndrome |
|
Fair hair, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Anteverted ears, Cr... |
OMIM:610443 |
Alzahrani-Kuwahara Syndrome |
|
Smooth philtrum, Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Coronary... |
OMIM:619268 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Micrognathia, ... |
ORPHA:1655 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis, Cysti... |
OMIM:313850 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Optic atrophy, Gingival overgrowth, Hepatosplenomegaly, Abnormal... |
ORPHA:93399 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... |
OMIM:181000 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the... |
ORPHA:2969 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H... |
OMIM:613717 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Facial edema, Periorbital edema, Abnormality of the thyroid gland, Enlarged lacrima... |
ORPHA:449432 |
Mosaic Trisomy 1 |
|
Microretrognathia, Ventricular septal defect, Abnormal pinna morphology, Polyhydramnios, Increase... |
ORPHA:1692 |
Ascher Syndrome |
|
Upper eyelid edema, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm |
|
Celiac artery compression |
OMIM:116870 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymph... |
ORPHA:653 |
X Small Rings |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root... |
ORPHA:96201 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Posteriorly rotated ears, Macrodontia, Protrudi... |
OMIM:212066 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Stomatitis, Dextrocardia, Megaloblastic ane... |
OMIM:277380 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Cryptorchidism, Thin vermil... |
ORPHA:96097 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... |
OMIM:612530 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Polyhydramnios, Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Le... |
OMIM:243150 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Low-set ea... |
ORPHA:261190 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Low-set ... |
OMIM:613443 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular... |
ORPHA:353277 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
Orofaciodigital Syndrome Vi |
|
Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Cleft upper lip, Hamartoma of to... |
OMIM:277170 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft upper lip, R... |
OMIM:300000 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... |
ORPHA:1307 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated e... |
OMIM:617450 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's... |
ORPHA:464738 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Congenital pulmona... |
OMIM:611812 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue |
ORPHA:2743 |
Joubert Syndrome 18 |
|
Lobulated tongue, Retrognathia, Ventricular septal defect, Cleft palate |
OMIM:614815 |
Down Syndrome |
|
Thickened nuchal skin fold, Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality o... |
ORPHA:870 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect |
OMIM:606812 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Optic... |
ORPHA:494344 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Th... |
OMIM:619103 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Cleft palate, Open mouth |
OMIM:147800 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Prominent crus of helix, Macr... |
OMIM:617804 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Death in infancy, Splenomeg... |
OMIM:614576 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Cryptor... |
OMIM:244300 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmenta... |
OMIM:169400 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Protr... |
OMIM:619123 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... |
OMIM:602535 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Cleft palate, Abnormal cranial nerve morphology, Ectopic anus, Anal at... |
ORPHA:2345 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple... |
OMIM:605039 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... |
ORPHA:465508 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial s... |
OMIM:300373 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Protruding ear, Short philtrum, High palate, Small... |
OMIM:216340 |
Carey-Fineman-Ziter Syndrome 1 |
|
Decreased fetal movement, Facial palsy, Micrognathia, Cryptorchidism, Sensorineural hearing impai... |
OMIM:254940 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Premature birth, Puberty and gonadal disorders, Splenomegaly, ... |
ORPHA:525731 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Lambert Syndrome |
|
Wide mouth, Malar flattening, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Macrotia, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal... |
OMIM:617360 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Es... |
OMIM:617925 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Optic atrophy, C... |
OMIM:614424 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Death in infancy, Posteriorly rotated ears, Cardiomegaly, Antenatal intracerebral h... |
OMIM:608836 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Low-set ... |
OMIM:619762 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... |
OMIM:617635 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Hepatomegaly, Optic disc pallor, Ventricular septal defect, Cryptorchidism, Neo... |
OMIM:613730 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Malabsorption, ... |
ORPHA:452 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Anal stenosis, Ventricular septal defect, Posteriorly rotated ears, Polyhyd... |
OMIM:117650 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Villous atrophy, Malabsorp... |
OMIM:557000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:300534 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, Precocious puberty, Cryptorchidism, High, narrow palate, Abnormality ... |
ORPHA:96092 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Au-Kline Syndrome |
|
Thickened nuchal skin fold, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairmen... |
OMIM:616580 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... |
OMIM:612289 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Patent foramen ovale, Narro... |
OMIM:245600 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan... |
OMIM:222448 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Macrotia, ... |
ORPHA:2463 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hypopig... |
ORPHA:797 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Posteriorly rotated ears, Accessory oral frenulum, Micro... |
OMIM:211750 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Dental crowding, Su... |
OMIM:257920 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, High ... |
OMIM:162300 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... |
ORPHA:2754 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Facial edema, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Lymphadenopathy... |
ORPHA:79078 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Short philtrum, High palate... |
ORPHA:96121 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Branchial fistu... |
ORPHA:261337 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Myasthenic Syndrome, Congenital, 10 |
|
Decreased fetal movement, Tongue atrophy |
OMIM:254300 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Lef... |
OMIM:617713 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defec... |
OMIM:614294 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:113000 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Diabetes insipidus, Hypoplasia of the maxilla, Hypoplastic fro... |
ORPHA:391474 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal def... |
OMIM:610759 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cry... |
OMIM:616975 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Hearing impairment, Abnormality of canine, P... |
ORPHA:364577 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Fetal akinesia sequence, Cryptorchidism, De... |
OMIM:618143 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipp... |
OMIM:618454 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... |
OMIM:222470 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cl... |
OMIM:616300 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Low-set ... |
OMIM:601357 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive... |
ORPHA:2751 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Pseudotrisomy 13 Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Cleft upper lip, Adrenal hypop... |
OMIM:264480 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... |
OMIM:615582 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Micrognathia... |
OMIM:613457 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Patent foramen ovale, Wide anterior fontanel, Patent ductus ar... |
ORPHA:96149 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Micrognathia, Protruding ear... |
OMIM:616777 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Recurrent otitis media, High palate, Ventricular septal defect, Dextrotransposition of the great ... |
OMIM:619995 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial... |
ORPHA:1752 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Holoprosencephaly |
|
Abnormality of the spleen, Deep philtrum, Iris coloboma, Diabetes insipidus, Bilateral cleft lip,... |
ORPHA:2162 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Optic atrophy |
ORPHA:216873 |
Bangstad Syndrome |
|
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, G... |
OMIM:210740 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Inte... |
ORPHA:2970 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Abnormal pinna morphology, Micrognathia, Optic atrophy, Macrotia, Prof... |
ORPHA:3078 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Posteriorly rotated ears, Dental crowding, Protruding tongue, Submucous c... |
OMIM:618106 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Hypermelanotic macule |
ORPHA:2762 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Fanconi Anemia |
|
Micrognathia, Abnormality of skin pigmentation, Leukopenia, High palate, Atrial septal defect, Ab... |
ORPHA:84 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Iris coloboma, Accessory spleen, Cl... |
OMIM:249000 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Micrognathia, Ab... |
ORPHA:251028 |
Woods Syndrome |
|
Optic atrophy, Thin vermilion border, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Posteriorly rotated ea... |
OMIM:619229 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... |
OMIM:212140 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin vermilion borde... |
ORPHA:217346 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, M... |
OMIM:618268 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal transluce... |
OMIM:618870 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Ventricular septal defect, Abnormal pinna morphology... |
OMIM:244450 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Sensorineural hearing impairment, Hypopigmented skin patches, Anemia, G... |
ORPHA:47 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Optic atrophy, Chylopericardium, Lymphadenopathy, Abnorm... |
ORPHA:538 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia, Goiter |
OMIM:274240 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Micrognathia, Patent ductus arteriosus, D... |
OMIM:606232 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Cardiomegaly, Sensorineural hearing impairment, Stroke-like episode, Cardiomyopa... |
OMIM:105210 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Patent ductus arteriosus, Hypoplastic left heart, Narrow mouth, Microglossia |
ORPHA:1972 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... |
ORPHA:562 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Heart block, Cryptorchidism, Sensorineural hearing impa... |
OMIM:617063 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hy... |
ORPHA:141127 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormal dental morphology, Abnorma... |
ORPHA:2092 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... |
ORPHA:99880 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of the twelfth cran... |
ORPHA:252164 |
Moebius Syndrome |
|
Death in infancy, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial palsy, ... |
ORPHA:570 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr... |
ORPHA:740 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Sensorineural hea... |
ORPHA:3241 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Edema, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, ... |
OMIM:618348 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Retrognathia, Cleft palate, Pierre-Robin sequence |
OMIM:620269 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased fetal movement, Micrognathia, Decreased nerve conduction velocity, Cleft palate, Glosso... |
OMIM:618356 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge over... |
ORPHA:444072 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Bilate... |
ORPHA:1051 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... |
ORPHA:288 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Transposition of the... |
OMIM:314390 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT interval, Primary hype... |
ORPHA:143 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Cardiomegaly, Micrognathia, Splenomegaly, Co... |
OMIM:252500 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin... |
ORPHA:96129 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... |
ORPHA:805 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Duplication of the upper lip, Goiter |
OMIM:109900 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Atrial septal defect, Posteriorly rotated ears, Ventricular sep... |
OMIM:609942 |
Orofaciodigital Syndrome Iv |
|
Accessory oral frenulum, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, Mac... |
OMIM:618874 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Lymphedema, Micrognathia, High, narrow palate, High palate, Atr... |
OMIM:163950 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Raine Syndrome |
|
Mandibular prognathia, Death in infancy, Mixed hearing impairment, Natal tooth, Abnormal pinna mo... |
OMIM:259775 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pursed lips, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy... |
OMIM:601559 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in c... |
OMIM:268800 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Atrial septal defect, Advanced eruption of teeth, Atrioventricular ... |
ORPHA:818 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Maternal diabetes, Micrognathia, Carious teeth, Glossoptosis, Hearing impairment |
ORPHA:93346 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Micrognathia, Microglossia, Cleft palate, Anterior hypopituit... |
OMIM:241800 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ... |
ORPHA:2167 |
Degcags Syndrome |
|
Polyhydramnios, Micrognathia, Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemi... |
OMIM:619488 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment |
OMIM:252920 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Velopharyngeal ... |
OMIM:613680 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal defect, Exaggerated cupi... |
OMIM:615879 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... |
OMIM:614473 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Darier-White Disease |
|
Enlargement of parotid gland, Hypermelanotic macule |
OMIM:124200 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Mandibular prognathia, Delayed eruption of teeth, Posteriorly... |
OMIM:135500 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Hearing impairment |
ORPHA:391428 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... |
OMIM:208000 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
Chops Syndrome |
|
Ventricular septal defect, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, High, narrow p... |
OMIM:616368 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft lip, Dysplastic tricuspid valve, D... |
ORPHA:1724 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho... |
ORPHA:2710 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Abnormal pinna morphology, Micrognathia, Hypoplastic frontal sin... |
ORPHA:90652 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Micrognathia, Protruding tongue, Malabsorption, T lymphocytopenia, Macroglossia, Low-s... |
OMIM:242860 |
Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal splee... |
ORPHA:85448 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... |
OMIM:230000 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Pe... |
ORPHA:449395 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Po... |
ORPHA:459070 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Branchiooculofacial Syndrome |
|
Micrognathia, Premature graying of hair, Conductive hearing impairment, Ectopic thymus tissue, Hy... |
OMIM:113620 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Optic atrophy, Retrognathia, Hypoplasia of teeth, Macrotia |
OMIM:234050 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cardiomegaly, Micrognathia, Cleft lip, Optic atrophy, Cleft pa... |
ORPHA:97297 |
Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Micrognathia, Dilated... |
OMIM:607598 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Atrial septal defect, Micr... |
OMIM:229850 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Micrognathia, Macrotia, Thick vermilion border, Low-set ears, Cafe-au-... |
OMIM:250410 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pa... |
OMIM:614961 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Otospondylomegaepiphyseal Dysplasia |
|
Posteriorly rotated ears, Polyhydramnios, Micrognathia, Sensorineural hearing impairment, Cleft p... |
ORPHA:1427 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis... |
OMIM:618886 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Tetralogy of Fallot, Tracheoesophageal fistu... |
ORPHA:1780 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology |
ORPHA:531151 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Hearing impairment, Enlarged polycystic ovaries, Abnormality of the... |
ORPHA:201 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Cardiomegaly, Hypothyroidism, Hearing impairment |
ORPHA:349 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Microretrognathia, Ventri... |
ORPHA:3380 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Ring Chromosome 22 Syndrome |
|
Edema, Lymphedema, Protruding tongue, Thick vermilion border, Pleural effusion, Macrotia |
ORPHA:1446 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Deep philtrum, Optic disc coloboma, Clef... |
ORPHA:251014 |
Costello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Micrognathia, Premature birt... |
OMIM:218040 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Thickened helices, Con... |
OMIM:607872 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Abnormal dental enamel morphol... |
ORPHA:2750 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Codas Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Crypt... |
OMIM:600373 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Micrognathia, Heart murmur, Microdontia, Microglossia |
OMIM:606744 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Downturned corners of mouth, Widely spaced teeth, High palate,... |
OMIM:122470 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Ventricular septal defect, Hypoplasia of the maxilla, Congestive heart failure, Pat... |
OMIM:608328 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla... |
OMIM:609460 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st... |
OMIM:301030 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Posteriorly rotated ears, Hamartoma of... |
OMIM:615948 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Crypto... |
OMIM:607721 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect |
ORPHA:1425 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Low-set... |
ORPHA:2752 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Ventricular septal defect, Bilateral sensorineural hearing impairment |
OMIM:619083 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... |
ORPHA:365 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of t... |
ORPHA:95159 |
Jacobsen Syndrome |
|
Iris coloboma, Abnormality of the anus, Low-set, posteriorly rotated ears, Death in infancy, Prem... |
ORPHA:2308 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna... |
OMIM:309500 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Facial palsy, Edema, Hearing impairment, Atrial fibrillation,... |
ORPHA:254892 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia of the ma... |
ORPHA:79345 |
Pmm2-Cdg |
|
Mandibular prognathia, Lymphedema, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:79318 |
Hardikar Syndrome |
|
Premature rupture of membranes, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Cleft s... |
OMIM:301068 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Hypertension, Bl... |
OMIM:614653 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septa... |
OMIM:613458 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Atrial septal defect, ... |
ORPHA:84064 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, H... |
ORPHA:2457 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Bilateral cryptorchidism, Secundum atrial septal defect, ... |
OMIM:616268 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenom... |
ORPHA:646 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Cryptorc... |
OMIM:102500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Widely spaced teeth, Atrial septal defect, Iris coloboma, Pulmonary artery slin... |
OMIM:235730 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... |
ORPHA:991 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Decreased response ... |
ORPHA:488632 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Micrognathia, Swollen lip, C... |
OMIM:256520 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofacial cleft, Thin vermil... |
ORPHA:1519 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Iris coloboma, ... |
ORPHA:955 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia, Furrowed tongue |
ORPHA:2928 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Premature birth, Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis |
ORPHA:440354 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Low-se... |
OMIM:613404 |
Restrictive Dermopathy |
|
Premature delivery because of cervical insufficiency or membrane fragility, Polyhydramnios, Micro... |
ORPHA:1662 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, Protruding ear, High palate, Atrial septal defect, Hemolytic a... |
OMIM:147920 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macroglossia, Glossitis |
ORPHA:2221 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Restrictive Dermopathy 1 |
|
Natal tooth, Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Po... |
OMIM:275210 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Vertigo,... |
ORPHA:79280 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of... |
ORPHA:449563 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Antevert... |
OMIM:613884 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Prematur... |
OMIM:615873 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Perioral hyperpigmentation, Furrowed tongue, Hypodontia, Vi... |
ORPHA:140936 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Erythrodontia, Hyperpigmentation of the skin, Nonimmune hydrop... |
ORPHA:79277 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart |
ORPHA:2476 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... |
ORPHA:139466 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate, Mitral regurgita... |
ORPHA:313892 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Hyperpigmentation of the skin, Microcytic anemia, Cardiomegaly, Thrombocytopenia, S... |
OMIM:256040 |
Tetrasomy 9P |
|
Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... |
ORPHA:3310 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Miscarriage, Sinusitis, Cost... |
OMIM:245150 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Sudden cardiac death, Cardiomegaly, Re... |
OMIM:201475 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, ... |
OMIM:268310 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... |
OMIM:300952 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, High palate, Retrognathia |
OMIM:617164 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophag... |
ORPHA:958 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia... |
ORPHA:2483 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Mitral valve prolapse, Taurodonti... |
OMIM:616202 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Abnormality of the dentition... |
OMIM:617140 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Premature loss of primary teeth, Abnormality of the dentition, Open b... |
ORPHA:2907 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Atrial septal defect, Bifid uvula, Microretrognathia, Hepatomegaly... |
OMIM:270400 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Esophageal atresia, Tracheoe... |
ORPHA:77298 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu... |
ORPHA:51636 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363958 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Aortic val... |
OMIM:272950 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:411511 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Polyhydramnios, Micrognathia, Protruding tongue, Cupped ear, Abnormal h... |
OMIM:617062 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Marshall-Smith Syndrome |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Conductive hearing impairment, Open mouth,... |
ORPHA:561 |
Filippi Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin vermilion bo... |
ORPHA:3255 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Icf Syndrome |
|
Abnormality of neutrophils, Micrognathia, Protruding tongue, Malabsorption, Macroglossia, Low-set... |
ORPHA:2268 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Bacterial en... |
ORPHA:97214 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of t... |
ORPHA:564 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment |
OMIM:251800 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Recurrent otitis media, Chronic ... |
OMIM:616037 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P... |
ORPHA:1465 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Hepatomegaly, Neutrophilia, Palpebral edema, Severe periodontitis, Microcy... |
ORPHA:99843 |
Trichothiodystrophy |
|
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid... |
ORPHA:33364 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Atrial... |
ORPHA:280633 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Accessory oral f... |
ORPHA:434179 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft... |
ORPHA:1335 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Low-set ears, Long philtrum |
OMIM:617895 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Melioidosis |
|
Shock, Abnormality of the spleen, Abnormal parotid gland morphology, Splenic abscess, Parotitis |
ORPHA:31202 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Polyhydramnios, High, narrow palate, Atrial septal de... |
ORPHA:373 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Maternal di... |
ORPHA:1199 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Abnormal heart morphology |
DECIPHER:52 |
Bangstad Syndrome |
|
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... |
ORPHA:1227 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Micrognathia, High, narrow palate, Infl... |
ORPHA:881 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:536467 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Sinusitis, Ventricular septal defect, Micrognathia, Axillary freckling, Abnor... |
ORPHA:363700 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Ventricular septal defect, Micrognathia, Cryptorchidism, Pyloric st... |
OMIM:147791 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Breech prese... |
OMIM:618846 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Uplifted earlobe, Po... |
OMIM:619841 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L... |
OMIM:619306 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Abnormality of retinal pigmentation, Medullary thyroid carcinoma |
ORPHA:122 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Leukocytosis, ... |
OMIM:615673 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect |
ORPHA:83617 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the max... |
OMIM:261540 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Wide mouth, Thick vermil... |
ORPHA:1517 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun... |
OMIM:619991 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of... |
ORPHA:306542 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops... |
OMIM:602522 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... |
OMIM:192445 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart ... |
OMIM:101400 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Facial palsy, Sensorineural hearing impairment, Tongue fasciculations, Death in c... |
OMIM:211530 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequence, Cleft palate... |
ORPHA:1358 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Sensorineural hearing impairment, Hematochezia, S... |
OMIM:619575 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Erythematous oral mucosa, Cor pulmonale, Furrowed tongue, Melena, Corneal neovascul... |
OMIM:158310 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Anemia, Hematochezia, Protein-losing enteropa... |
OMIM:175500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia... |
OMIM:612528 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... |
OMIM:149730 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Dilatation of the cereb... |
ORPHA:284984 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Micrognathia, Cleft palate, Microtia, Thick anterior alveolar ridges, ... |
ORPHA:2839 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Abnormal morphology of the great vessels, Cleft palate, Downturned corners of ... |
ORPHA:488642 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, A... |
ORPHA:89842 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... |
ORPHA:268261 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Ad... |
OMIM:130650 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, A... |
OMIM:150250 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Meckel diverticulum, Edema of the dorsum of feet, Ventricular septal defect, Eo... |
OMIM:274000 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Ventricular septal defect, Orofacial cleft, Hepatomegaly |
OMIM:615630 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... |
OMIM:619909 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98794 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... |
ORPHA:2519 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Premature birth, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic a... |
OMIM:230600 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis |
OMIM:617994 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Polyhydramnios, Atrial septal defect, Posterior helix pit, Hepatomegaly, E... |
OMIM:312870 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Microtia, Duodenal... |
OMIM:617798 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Premature birth, Protruding tongue, Gingival overgrowth, Wide mouth, Low-set ears |
OMIM:618797 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Neutr... |
ORPHA:79284 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft... |
ORPHA:2473 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... |
ORPHA:60030 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Micrognathia, Situs inversus t... |
ORPHA:2461 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subv... |
OMIM:613001 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Sensorineural hearing impairment, Pedal edema, ... |
OMIM:617107 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... |
OMIM:603903 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Sens... |
ORPHA:828 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy |
OMIM:619259 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia... |
ORPHA:464306 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Abnormal pinna morphology, Polyhyd... |
OMIM:236680 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Ventricular septal defect, Micrognathia |
OMIM:620073 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hearing abnormality, Glossoptosis, Protruding ear |
ORPHA:2031 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Atrial septal defect,... |
OMIM:194190 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hyperpigme... |
OMIM:601803 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Protruding ear, High palate, Atrial septal defect,... |
OMIM:614976 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Low-set ears |
OMIM:618325 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... |
ORPHA:733 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Premature birth, Congenital hyp... |
OMIM:105650 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Stomatitis, Ga... |
ORPHA:97280 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Palpitations, Goiter |
OMIM:188580 |
Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Precocious puberty in females, Protruding tongue, Optic... |
ORPHA:72 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Calcif... |
ORPHA:51 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Abnormality of skin pigmentation, Sho... |
OMIM:619475 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino... |
OMIM:145001 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Polyhydramnios, Cryptorchidis... |
ORPHA:464311 |
Marfan Syndrome |
|
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... |
OMIM:154700 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Vascular calcification, Premat... |
ORPHA:90324 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... |
ORPHA:466791 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Hyperpigmentation of the skin, Hypergonadotropic hypogon... |
OMIM:227645 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... |
ORPHA:2729 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Micrognathia, Thrombocytopenia, Splen... |
OMIM:619525 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level |
OMIM:612089 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Facial palsy, Sensorineural hear... |
OMIM:607323 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... |
OMIM:243800 |
Spinocerebellar Ataxia Type 36 |
|
Vertigo, Tongue fasciculations, Tongue atrophy, Hearing impairment |
ORPHA:276198 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition... |
OMIM:277600 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma |
OMIM:617343 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Premature graying of hair, Early onset of sexual maturati... |
OMIM:194050 |
Bazex-Dupre-Christol Syndrome |
|
Hyperpigmentation of the skin, Furrowed tongue |
OMIM:301845 |
Hartnup Disease |
|
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis |
ORPHA:2116 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Dental crowding, P... |
OMIM:301044 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... |
OMIM:131100 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Premature birth, Incre... |
OMIM:609152 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Premature birth, Sp... |
OMIM:619418 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Micrognathia, Cryptorchidism, Muscular ventricular s... |
OMIM:210710 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Kinsship Syndrome |
|
Mandibular prognathia, Death in infancy, Thin upper lip vermilion, Micrognathia, Thick lower lip ... |
OMIM:619297 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Posteriorly rotated ears, Micrognathia, Open bite, Cryptorchidism, S... |
ORPHA:3107 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Hearing impairment |
OMIM:614153 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Singleton-Merten Syndrome 1 |
|
Smooth philtrum, Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth ge... |
OMIM:182250 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Posteriorly rotated ears, Cleft palate, Low-set ears, Hearing impairment |
OMIM:178110 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Cryptorchidism, Narrow palate, Long philtrum, High pal... |
OMIM:616078 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Low APGAR score |
ORPHA:79243 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prominent scalp veins, Anterior pituitary hypoplasia, Micrognathia, Abnorm... |
OMIM:151050 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Micrognathia, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Cleft palate |
OMIM:611134 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Fr... |
OMIM:618373 |
Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Micrognathia, Multinodular goiter, Multiple enchondromatosis, Adenocarc... |
OMIM:620189 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Micrognathia, Cryptorchidism, Esophageal atresia, Hydrops fetalis, Ectopic anus,... |
ORPHA:93271 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Aortic regurgitation, Tricuspid regurgitation... |
OMIM:143095 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Gastrointestin... |
ORPHA:97283 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... |
ORPHA:989 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, Supernumerary tooth, Hig... |
ORPHA:2108 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Macroglossia, Cardio... |
ORPHA:258 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Brachial plexus neuropathy, Reduced left v... |
ORPHA:268 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar... |
OMIM:100300 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Pigmentary retinopathy, Str... |
OMIM:118450 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Cryptorchidism, Pa... |
OMIM:135900 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... |
ORPHA:97278 |
Neuroocular Syndrome |
|
Brushfield spots, Unilateral deafness, Short uvula, Cupped ear, Blue irides, Retrognathia, Submuc... |
OMIM:619539 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Cardiomyopathy, Abnormal myocardium... |
ORPHA:228308 |
Sotos Syndrome |
|
No permanent dentition, Pedal edema, Atrial septal defect, Conductive hearing impairment, Chronic... |
ORPHA:821 |
Cousin Syndrome |
|
Posteriorly rotated ears, Micrognathia, Microglossia, Alveolar ridge overgrowth, Cleft palate, Lo... |
OMIM:260660 |
Gracile Bone Dysplasia |
|
Death in infancy, Asplenia, Aniridia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Sensorineural hearing impa... |
ORPHA:500095 |
Microsporidiosis |
|
Sinusitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Myocarditis, Lymphade... |
ORPHA:2552 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Patent foramen ovale, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin verm... |
OMIM:619869 |
Muir-Torre Syndrome |
|
Colon cancer, Adenoma sebaceum, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Cardiomegaly, Acanthocytosis,... |
ORPHA:14 |
Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Trismus, Smooth tongue, Abnormal autonomic nervous system physiolog... |
ORPHA:3206 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Elev... |
ORPHA:97261 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi... |
ORPHA:54028 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... |
ORPHA:1332 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal defect,... |
OMIM:268300 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... |
ORPHA:101085 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma |
OMIM:608266 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Ectopic anus, Breast aplasia, Hypodo... |
ORPHA:3138 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Asplenia, Cleft ... |
ORPHA:261552 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... |
ORPHA:287 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Microtia, Ventricular septal defect |
ORPHA:2438 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, Optic nerve hypopl... |
OMIM:206900 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve pro... |
ORPHA:666 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pig... |
ORPHA:79396 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti... |
ORPHA:99949 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Micrognathia, Cleft palate, Hearing impairment |
ORPHA:94068 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Plague |
|
Hepatomegaly, Chapped lip, Tachycardia, Mydriasis, Edema, Hematemesis, Splenomegaly, Lymphadeniti... |
ORPHA:707 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, I... |
ORPHA:436252 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Decreased distal sensory nerve action potential, Sensorineural hearing impairment... |
ORPHA:99956 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Ventricular septal defect, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Pulmonic stenosis, Protruding tongue |
OMIM:614325 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardial effusion, Vascular ... |
OMIM:219730 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Sensorineural hearing impairment, Optic atro... |
ORPHA:506 |
Generalized Pustular Psoriasis |
|
Congestive heart failure, Leukocytosis, Cheilitis, Pedal edema, Lymphopenia, Geographic tongue |
ORPHA:247353 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Familial Isolated Hyperparathyroidism |
|
Parathyroid adenoma, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level |
ORPHA:99879 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defec... |
OMIM:620330 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine... |
ORPHA:438213 |
Joubert Syndrome 1 |
|
Optic disc pallor, Protruding tongue, Optic disc coloboma, Macroglossia, Low-set ears, Triangular... |
OMIM:213300 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Female hypogonadism, Uplifted earlobe, Micrognathia, Adrenal hypoplasia... |
OMIM:607932 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Abnormal pa... |
ORPHA:141099 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T... |
ORPHA:466768 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots, Hypertension, Pheochromocyto... |
OMIM:162200 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Ventricular septal def... |
OMIM:107480 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Facial palsy |
OMIM:617114 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect, Hearing impairment, Optic neuropathy, Thick lower lip vermilion, Optic... |
OMIM:619727 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Cafe-au-lait spot, Aplastic anemia |
OMIM:610832 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Sensorineural hearing impairment, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Omodysplasia 1 |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Pulmonary artery stenosis, Long philtrum... |
OMIM:258315 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Ventricular septal defect, Carious teeth, Cryptorchidism, Patent ductus... |
OMIM:619522 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Glossitis, Thrombocytopenia |
ORPHA:90045 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios |
OMIM:615503 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue, Hearing impairment |
OMIM:619580 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Polyhydramnios, Micrognathia... |
OMIM:606170 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cleft palate, Mitral regurgitatio... |
OMIM:271640 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Micrognathia, Protruding tongue, Facial diplegia, Hearing impairment |
ORPHA:98889 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Limb Body Wall Complex |
|
Ventricular septal defect, Cleft lip, Amniotic constriction ring, Cleft palate, Abnormal heart mo... |
ORPHA:2369 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... |
OMIM:123700 |
Penile Agenesis |
|
Ventricular septal defect, Posteriorly rotated ears, Maternal diabetes, Rectal fistula, Cryptorch... |
ORPHA:49 |
Developmental And Epileptic Encephalopathy 100 |
|
Decreased fetal movement, Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival o... |
OMIM:619777 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Optic atrophy, Shor... |
OMIM:614947 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Bifi... |
OMIM:613091 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti... |
OMIM:616682 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth... |
ORPHA:79408 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv... |
ORPHA:261537 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu... |
ORPHA:2152 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anal stenosis, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism |
OMIM:145980 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Thyroid carcinoma, ... |
ORPHA:276399 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Short neck, Atrial septal defect, Umbilical hernia, Dilatation of the sinus of Vals... |
OMIM:304120 |
Choreoacanthocytosis |
|
Hepatomegaly, Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level... |
ORPHA:2388 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Sensorineural hearing impair... |
ORPHA:388 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Ventricular septal defect |
OMIM:259770 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |