Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Hypospadias, Ventricu... |
OMIM:231060 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Micrognathia, M... |
ORPHA:1166 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Micrognathia, Coarctation of aorta, Ven... |
OMIM:616145 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Cryptorchidism, Pulmonic stenos... |
ORPHA:3304 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:251076 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Micrognathia, Hypoplasia of the thymus, Long philtrum, Ventricular se... |
OMIM:617022 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... |
OMIM:618845 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductu... |
OMIM:601927 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Narrow mouth, Carious teeth, Downturned corners of mouth, Hypoplasia ... |
ORPHA:1110 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Malar flattening, Pulmo... |
OMIM:179613 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Mmep Syndrome |
|
Oral cleft, Ventricular septal defect, Median cleft lip, Microphthalmia, Mandibular prognathia, C... |
ORPHA:3434 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Renal hypoplasia/aplasia, Cleft palate, Micropenis, Microgn... |
ORPHA:1926 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Pierre-Robin sequence |
OMIM:261800 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Micropenis, Retrognathia, Hypogonadotropic hypogonadism, Carious teeth, Ventricular... |
OMIM:147770 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Hypoplasia of the ulna, Ventricular septal defect, Mesomelia, Renal cyst, Renal hyp... |
OMIM:228940 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1727 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Abnorm... |
ORPHA:477817 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Tetralogy of Fallot, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Aplasia/hypoplasia involving bones of the lower limbs, Atrioven... |
ORPHA:40366 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Velopharyngeal insufficiency, Cleft palate, Retrognathia, Double aortic arch,... |
OMIM:192430 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Abnormal heart morphology |
OMIM:233270 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Hypogonadotropic hypogon... |
ORPHA:2326 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Hypothyroidism, Goiter, Right aortic arch |
OMIM:617577 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring, Abnormally large globe |
OMIM:603387 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Malar flattening, Hypospadias, Tetralogy of Fallot, Unilateral ... |
ORPHA:1919 |
Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... |
ORPHA:3316 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... |
OMIM:618316 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of the radius, Tetralogy of Fallot, Oral cleft, Hypoplasia o... |
ORPHA:3186 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Rena... |
ORPHA:2516 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Mic... |
OMIM:615524 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Short... |
OMIM:604381 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Retrognat... |
OMIM:612561 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... |
OMIM:601355 |
Tetraploidy |
|
Aplasia/Hypoplasia affecting the eye, Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Short... |
ORPHA:3305 |
Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Ventricular ... |
ORPHA:261120 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Micropenis, Glossoptosis, Micrognathia, Ventricular septal defect, Hypoplastic... |
OMIM:618021 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Ana... |
OMIM:115470 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Microphthalmia |
OMIM:616570 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Micrognathia, Long philtrum, ... |
ORPHA:2209 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
2p15-16.1 microdeletion syndrome |
|
Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Diabetes mellitus |
DECIPHER:47 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Cleft palate, Micrognathia, Anophthalmia, Dextrocardia, Microphthalmia |
OMIM:221950 |
Faciothoracogenital Syndrome |
|
Micrognathia, Glandular hypospadias, Long philtrum, Microphthalmia, Thin upper lip vermilion, Smo... |
OMIM:227320 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Hypoplasia of penis, Micrognathia, Hydroureter, Abnormality of the upper urina... |
ORPHA:2547 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism |
OMIM:615987 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... |
OMIM:615382 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Cryptorchidism, Micropenis, Micrognathia, Trismus, Microphallus, Abnormal heart morphology |
OMIM:218450 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... |
OMIM:314390 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fall... |
ORPHA:1381 |
Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Malar flattening, Abnormality of the den... |
ORPHA:3378 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Micrognathia, ... |
OMIM:600123 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:270100 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Hypoplasia of the ulna, Ventricular septal defect, Horse... |
OMIM:214800 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... |
OMIM:306955 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Ventricular sep... |
ORPHA:1388 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Chordee, Atrial septal defect, Cleft palate, Micropenis, Hypospadias, Ventricular s... |
OMIM:309801 |
Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Long philtrum, Short thumb, Pulmonary artery atresi... |
ORPHA:401935 |
Temtamy Syndrome |
|
Short toe, Microphthalmia, Micrognathia, Aortic aneurysm, Abnormal palate morphology, Thick lower... |
ORPHA:1777 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Hypo... |
OMIM:615993 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Absent thumb, Hypoplasia of the radius, Renal cyst, Hydronephrosis, Stage 5 chronic... |
OMIM:613390 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... |
OMIM:610205 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal def... |
ORPHA:210122 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Mckusick-Kaufman Syndrome |
|
High palate, Ectopic anus, Anal atresia, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... |
ORPHA:2473 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malr... |
ORPHA:2970 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, High, narrow palate, Cleft palate, Renal agenesis, Long philt... |
OMIM:618494 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... |
OMIM:616730 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... |
ORPHA:449400 |
Apert Syndrome |
|
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Malar flattening, Delayed eruptio... |
OMIM:101200 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... |
OMIM:605376 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Micrognathia, Hypospadias, Tetralogy of Fallot, Ventricular se... |
ORPHA:1913 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Increased size of the mandible, Pyloric stenosis, Increased mean platelet... |
OMIM:300048 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Left ventricular hypertrophy... |
OMIM:611209 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Microphthalmia, Retrognathia, Hypogonadism |
ORPHA:2528 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Lower limb undergrowth, Increased ... |
OMIM:613630 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... |
OMIM:611773 |
3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... |
ORPHA:7 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the dentition, Hypospadias, Tetralogy of Fallot, Abnormality of... |
ORPHA:276422 |
Tetralogy Of Fallot |
|
Thin vermilion border, Cryptorchidism, Tetralogy of Fallot |
ORPHA:3303 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Distal Tetrasomy 15Q |
|
High palate, Hydrocele testis, Atrial septal defect, Retrognathia, Micrognathia, Abnormality of t... |
ORPHA:314588 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hyp... |
ORPHA:2863 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... |
OMIM:617056 |
Trisomy 17P |
|
High palate, Wide mouth, Narrow mouth, Aortic valve stenosis, Hypoplastic left heart, Cleft palat... |
ORPHA:261290 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Mi... |
OMIM:609757 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hypodontia, Micropenis, Retrognathia, Pulmonic stenosis, Optic ner... |
OMIM:301056 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... |
ORPHA:391641 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Short philtrum, Ventricular septal defect, Widely-spaced maxi... |
OMIM:608227 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Hematuria, Cleft palate, Microphthalmia |
OMIM:120433 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Cleft palate, Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary trac... |
OMIM:612541 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... |
OMIM:613680 |
Digeorge Syndrome |
|
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... |
OMIM:188400 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Trisomy 1Q |
|
Anal atresia, Narrow mouth, Microretrognathia, Cleft palate, Congenital megaureter, Multicystic k... |
ORPHA:261344 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism |
ORPHA:1918 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide mouth, Abnormal cardiac septum morphology, Supernumerary nipple, Cleft palate, Micrognathia,... |
OMIM:618454 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Cryptor... |
OMIM:619797 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... |
OMIM:613759 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Ventricular septal defect, Microphthalmia |
ORPHA:3469 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Tracheoesophageal fistula, H... |
ORPHA:861 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Premature thelarche, Ventricular septal defect, Hypoplasia of the maxi... |
OMIM:180849 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Prune Belly Syndrome |
|
Anal atresia, Hydroureter, Xerostomia, Urethral valve, Patent ductus arteriosus, Hydronephrosis, ... |
OMIM:100100 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis, Hydroureter, Hydronephrosis |
OMIM:264140 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Tarp Syndrome |
|
High palate, Short sternum, Cleft palate, Glossoptosis, Hypoplasia of the radius, Micrognathia, T... |
OMIM:311900 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Abnormality of the dentition, Micrognathia, Abnormality of the kidney |
OMIM:616901 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Downturned corners of mouth, Ventri... |
ORPHA:94066 |
Cat-Eye Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Micropht... |
ORPHA:195 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Cleft palate, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum |
OMIM:611867 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Autosomal Recessive Amelia |
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Abnormal cardiac septum morphology, Hypoplasia of penis, Micrognathia, Acromelia of the lower lim... |
ORPHA:1027 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Pyloric stenosis, Ventricular septal defec... |
ORPHA:261494 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Ventricular septal defect, Abnormal heart morphology, Nephrolithiasis, Recurrent u... |
ORPHA:353281 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tracheoesophageal fistula, Double aortic arch, Esophageal atresia, Single v... |
ORPHA:95430 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Cleft palate, Ventricular septal defect, Renal cyst, Meningocele, Microphth... |
OMIM:611134 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... |
ORPHA:2306 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... |
OMIM:618652 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Oral cleft, Microphthalmia, Mandibular prognathia,... |
OMIM:601349 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Atrial septal defect, Micropenis, Retrognathia, Micrognathia, Unilateral renal agene... |
OMIM:618142 |
Suleiman-El-Hattab Syndrome |
|
High palate, Wide mouth, Microretrognathia, Atrial septal defect, Long philtrum, Downturned corne... |
OMIM:618950 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Tetralogy of Fallot, Hypoplastic frontal sinuses, Hypoplasia of the maxilla,... |
OMIM:136760 |
Li-Campeau Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis, Long philtrum, Ventricular septal defect, Hypot... |
OMIM:619189 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Atrial septal defect, Cleft palate, Intestinal malrotation, Downturned corners... |
ORPHA:457193 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Short 5th finger, Long philtrum, Renal cyst, ... |
OMIM:615583 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cryptorchidism, Cleft palate, Small hand, Micrognathia, Short philtrum, Hyp... |
OMIM:300712 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Cleft palate, Micrognathia, Hypoplasia of the thymus, Polycystic kidney dysplasia,... |
OMIM:214110 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... |
OMIM:619717 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... |
ORPHA:244 |
Isolated Polycystic Liver Disease |
|
Vascular dilatation, Multiple renal cysts |
ORPHA:2924 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Cleft palate, Malar flattening, Splenomegaly, Pulmonary l... |
OMIM:235255 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... |
ORPHA:2248 |
Williams Syndrome |
|
Cholelithiasis, Wide mouth, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery m... |
ORPHA:904 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Multicystic ... |
OMIM:619980 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Micrognathia, Proximal renal tubular acidosis, Cyst... |
OMIM:181180 |
Distal Monosomy 15Q |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Ventricular septal defect, Anteriorly placed ... |
OMIM:146510 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... |
ORPHA:2712 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... |
OMIM:615415 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
High palate, Renal atrophy, Micrognathia, Hydronephrosis, Cryptorchidism |
OMIM:618578 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Everted lower lip vermilion, Hypospadias, Short... |
OMIM:616449 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Microphthalmia |
ORPHA:2432 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Microgn... |
OMIM:608572 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dysplasia, Carious t... |
ORPHA:3270 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Mic... |
ORPHA:99776 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot, Oral cleft, Ventricular septal ... |
ORPHA:2328 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Micrognathia, Short p... |
ORPHA:435638 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot oligodactyly, T... |
OMIM:616589 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, V... |
ORPHA:1923 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Abnormality of the kidney, Renal cyst, Hypogonadism, Cryptorchidism |
OMIM:615982 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Subvalvula... |
OMIM:613001 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, P... |
OMIM:614886 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
Emanuel Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Micropenis,... |
OMIM:609029 |
Stankiewicz-Isidor Syndrome |
|
Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ureteral duplication, Short th... |
OMIM:617516 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Increased urine alpha-ketogluta... |
OMIM:220500 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Colitis, Gastritis, Atrial septal defect, Bicuspid aortic v... |
ORPHA:84064 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Splenomegaly, Abnormally large globe, Pulmonary lymphangi... |
ORPHA:1655 |
Craniofacial Microsomia |
|
Wide mouth, Cleft palate, Maxillozygomatic hypoplasia, Ventricular septal defect, Hypoplasia of t... |
OMIM:164210 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Splenomegaly, Thrombocytopenia, Ventricular septal defect, Patent ductus ar... |
ORPHA:290 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide mouth, Precocious puberty, High, narrow palate, Everted lower lip vermilion, Retrognathia, M... |
ORPHA:96092 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... |
OMIM:235510 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... |
OMIM:615502 |
Carpenter Syndrome 1 |
|
High palate, Precocious puberty, Persistence of primary teeth, Atrial septal defect, Aplasia/Hypo... |
OMIM:201000 |
Feingold Syndrome 2 |
|
Intestinal atresia, Short middle phalanx of the 2nd finger, Ventricular septal defect, Short thum... |
OMIM:614326 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Decreased... |
OMIM:618223 |
Galloway-Mowat Syndrome 7 |
|
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... |
OMIM:618348 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Ca... |
ORPHA:567 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Retrognathia, Short middle phalanx of the 2nd finger, Tetralogy ... |
OMIM:617926 |
Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Anal atresia, Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesi... |
OMIM:264480 |
Pierpont Syndrome |
|
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... |
OMIM:602342 |
Image Syndrome |
|
Hypospadias, Micromelia, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism |
ORPHA:85173 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy o... |
OMIM:618624 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... |
ORPHA:980 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... |
OMIM:156810 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... |
ORPHA:371428 |
Zaki Syndrome |
|
High palate, Wide mouth, Renal agenesis, Micrognathia, Short philtrum, Hypoplasia of the phalange... |
OMIM:619648 |
Mosaic Trisomy 1 |
|
Wide mouth, Microretrognathia, Renal cortical cysts, Cleft palate, Micropenis, Coarctation of aor... |
ORPHA:1692 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst, Multinodular goiter |
OMIM:138790 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect, Cleft palate |
OMIM:243440 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... |
OMIM:243150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Seckel Syndrome 2 |
|
Hypospadias, Micrognathia, Microdontia, Ectopic kidney, Microphthalmia, Microglossia |
OMIM:606744 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, 11 pairs of ribs, Anophthalmia, Vent... |
ORPHA:77298 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Abnormal renal morphology, Aplasia/Hypoplas... |
ORPHA:971 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in urine, Ventri... |
ORPHA:488618 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu... |
OMIM:613496 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Short middle phalanx of finger, Short thumb |
ORPHA:391646 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... |
ORPHA:353277 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesis, Hypospadias,... |
ORPHA:1335 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Short palm, Patent ductus arteriosus |
ORPHA:79094 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cleft palate, Increased axial length of the globe, Micrognathia, Hyperplasia of the maxilla, Vent... |
ORPHA:513456 |
Robinow Syndrome |
|
Tricuspid atresia, Dental crowding, Triangular mouth, Ventricular septal defect, Ankyloglossia, A... |
ORPHA:97360 |
Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Micropenis, Micrognathia, Micromelia, Anterior hypopituitarism, Renal d... |
OMIM:241800 |
Phace Association |
|
Microphthalmia, Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Congenital... |
OMIM:606519 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Microretrognathia, Microphthalmia, Cleft palate, Short ribs, Bifid tongue, Lobulate... |
OMIM:616300 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Hydroureter, Urethral diverticulum,... |
OMIM:212093 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Downturned corners of mouth, Ventricular septal defect, Rhizomelia,... |
ORPHA:93267 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Open mouth |
OMIM:616816 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Hydronephrosis, Vesicoureteral reflux, Cleft palate |
OMIM:618265 |
Chime Syndrome |
|
Pulmonary valve atresia, Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the... |
ORPHA:3474 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Restrictive cardiomyopathy, Abnormality of the dentition, Long philtrum, Ureteral st... |
OMIM:615398 |
Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Anal atr... |
OMIM:190685 |
Monosomy 18Q |
|
High palate, Wide mouth, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic va... |
ORPHA:1600 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognath... |
OMIM:243310 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect, Microphthalmia, Leukemia, Smooth philtrum |
OMIM:602501 |
Pierpont Syndrome |
|
Short toe, Long upper lip, Malar flattening, Everted lower lip vermilion, Thin vermilion border, ... |
ORPHA:487825 |
Thakker-Donnai Syndrome |
|
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Tetralogy of Fallot, Downturned corners of... |
ORPHA:1780 |
Timothy Syndrome |
|
Microdontia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent ductus arteri... |
OMIM:601005 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Aplasia/Hypoplasia of the radius, Ventricular... |
ORPHA:2476 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Oral cleft |
OMIM:611638 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Wide mouth, Peripheral pulmonary artery stenosis, Mitral stenosis,... |
ORPHA:163956 |
Microphthalmia, Syndromic 2 |
|
Radiculomegaly, Delayed eruption of teeth, Ventricular septal defect, Microphthalmia, Double outl... |
OMIM:300166 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Tongue fasciculations, Atrial septal defect |
OMIM:253300 |
Distal Trisomy 6P |
|
Aplasia/Hypoplasia affecting the eye, Narrow mouth, Thin vermilion border, Micrognathia, Abnormal... |
ORPHA:1745 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Multicystic kidn... |
OMIM:300209 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Hyperechogenic kidneys, Anophthalmia, Microphthalmia |
OMIM:613885 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Peripheral pulmonary artery stenosis, Cleft palate, Short philtrum, Tetralogy of Fall... |
OMIM:280000 |
Congenital Disorder Of Glycosylation, Type It |
|
Cleft palate, Micrognathia, Bifid uvula, Coarctation of aorta, Ventricular septal defect, Dilated... |
OMIM:614921 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Atrial septal defect, Decreased response to growth hormone stimulation test, Absent ... |
OMIM:609053 |
8Q12 Microduplication Syndrome |
|
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... |
ORPHA:228399 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip a... |
ORPHA:2001 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Renal cyst, Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Retrognathia, Microphthalmia, Pierre-Robin sequence, Thrombocytopenia |
OMIM:619981 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Horses... |
OMIM:607323 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Micrognathia, Microphthalmia, Esophageal atresia, Smooth... |
OMIM:614526 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Wide mouth, Persistence of primary teeth |
OMIM:618506 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... |
ORPHA:363444 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Cleft palate, Short femur, Short ribs, Micrognathia, Micropenis, Hypospadias, Limb undergrowth, V... |
OMIM:616897 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis, Atrial septal defect, High, narrow palate, Cleft palate, Everted lower lip vermil... |
ORPHA:464738 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cryptorchidism, Cleft palate, Abnorma... |
ORPHA:96167 |
Hanac Syndrome |
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Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Autosomal Recessive Robinow Syndrome |
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Wide mouth, Abnormality of the dentition, Short philtrum, Ventricular septal defect, Tented upper... |
ORPHA:1507 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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High palate, Short toe, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior o... |
OMIM:617877 |
Atrial Septal Defect 4 |
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Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... |
ORPHA:2745 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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High palate, Anal atresia, Short distal phalanx of finger, Hydrocele testis, Atrial septal defect... |
OMIM:614080 |
Kapur-Toriello Syndrome |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Abnormal... |
OMIM:244300 |
Aminopterin/Methotrexate Embryofetopathy |
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Cleft palate, Micrognathia, Micromelia, Tetralogy of Fallot, Pulmonary artery atresia, Ventricula... |
ORPHA:1908 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Wide mouth, Gingival overgrowth, Dental malocclusion, High palate,... |
OMIM:249420 |
Polycystic Kidney Disease 5 |
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Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Cerebrocostomandibular Syndrome |
|
High palate, Atrial septal defect, Malar flattening, Glossoptosis, Abnormality of the dentition, ... |
OMIM:117650 |
Femoral-Facial Syndrome |
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Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Cleft palate, Short femur, Micrognathi... |
ORPHA:1988 |
Aortic Aneurysm, Familial Thoracic 4 |
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Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Coarctation of aorta, Tetralogy of Fallot... |
OMIM:600460 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Abnormal cardiac septum morphology, Open bite, Hydronephrosis, ... |
ORPHA:3079 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Narrow palate, High, narrow palate, Cl... |
ORPHA:96169 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Cryptorchidism, Long philtrum, Patent ductus art... |
ORPHA:250989 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Micropenis, Hypogonadotropic hypogonadism, Bifid uvula, Co... |
OMIM:617159 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Chronic kidney disease, Atrial septal defect, Lymphocytosis, Iron ... |
ORPHA:1667 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Micrognathia, Hypospadias, Multicystic kidney d... |
ORPHA:2075 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
2Q24 Microdeletion Syndrome |
|
Abnormal oral frenulum morphology, Short philtrum, Cleft palate, Microphthalmia |
ORPHA:1617 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Narrow mouth, Abnormal localizatio... |
ORPHA:83473 |
German Syndrome |
|
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Micrognathia, Tetra... |
ORPHA:2077 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Horseshoe kidney, Microphthalmia, Perineal fistula, Ana... |
ORPHA:2538 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Hydroureter, Neurogenic bladder, Thrombocytopenia, Hypo... |
OMIM:222300 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Inverted Duplicated Chromosome 15 Syndrome |
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High palate, Precocious puberty, Unilateral renal agenesis, Short philtrum, Tetralogy of Fallot, ... |
ORPHA:3306 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Cleft palate, Microdontia, Widely spaced teeth, Proteinuria, Microphthalmia... |
ORPHA:2728 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Atrial septal defect, Recurrent urinary tract infections, Left superior vena cava d... |
OMIM:611961 |
Marden-Walker Syndrome |
|
Cleft palate, Abnormality of the upper urinary tract, Pyloric stenosis, Ventricular septal defect... |
ORPHA:2461 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... |
ORPHA:2256 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uvula, Downturned corner... |
ORPHA:404440 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Micrognathia, Ventricular septal defect, Abnormal vena cava ... |
ORPHA:166035 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts |
OMIM:600666 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Malar flattening, Retrognathia, Micrognathia, Long philtrum, Pyloric stenos... |
OMIM:613177 |
Teebi-Shaltout Syndrome |
|
Wide mouth, Narrow mouth, Aortic valve stenosis, High, narrow palate, Cleft palate, Oligodontia, ... |
OMIM:272950 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... |
OMIM:612562 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Short distal phalanx of finger, Cleft palate, Short ribs, Short uvula, Hypospadias, ... |
OMIM:614091 |
Dysmyelination With Jaundice |
|
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Everted lower lip vermilion, Ventricular septal defect, Cleft lip, Microphth... |
OMIM:616920 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Aortic tortuosity, Pulmonary artery a... |
OMIM:619472 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gingival overgrowth, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Micrognat... |
ORPHA:1834 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Short 2nd finger, Atrial septal defect, Cleft palate, Secundum atrial septal def... |
OMIM:600987 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Mesomelia-Synostoses Syndrome |
|
Narrow mouth, High, narrow palate, Malar flattening, Micrognathia, Aplasia/Hypoplasia of the uvul... |
ORPHA:2496 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Bifid tongue, Unilateral cryptorchidism, Bifid uvula, Lobu... |
OMIM:174300 |
Cofs Syndrome |
|
Micrognathia, Hypogonadism, Microphthalmia, Everted lower lip vermilion |
ORPHA:1466 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Missing ribs, Cleft palate, Multiple renal cysts |
ORPHA:66637 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Microphthalmia |
OMIM:616171 |
Johanson-Blizzard Syndrome |
|
Anal atresia, Malabsorption, Abnormal cardiac septum morphology, Hypoplasia of penis, Abnormality... |
ORPHA:2315 |
Kabuki Syndrome |
|
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Micr... |
ORPHA:2322 |
Mcdonough Syndrome |
|
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... |
OMIM:248950 |
Craniofacial Dyssynostosis With Short Stature |
|
Malar flattening, Hypospadias, Pyloric stenosis, Ventricular septal defect, Patent ductus arterio... |
OMIM:218350 |
X-Linked Intellectual Disability, Schimke Type |
|
High palate, Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... |
ORPHA:251071 |
Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Cleft palate, Micrognathia, Ventricular septal defect, Cleft lip, Broad philtrum |
ORPHA:398156 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Aplasia/hypopla... |
ORPHA:3320 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Tarp Syndrome |
|
Alveolar ridge overgrowth, Hypoplasia of proximal radius, Short sternum, Atrial septal defect, Cl... |
ORPHA:2886 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Everted lower lip vermilion, Long philtrum, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Pursed lips, Malar flattening, Micrognathia, Aglossia, Patent ductus arteri... |
OMIM:241310 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Retrognathia, Multicystic kidney dysplasia, Ureteropelvic... |
ORPHA:107 |
Khan-Khan-Katsanis Syndrome |
|
Triangular mouth, Buphthalmos, Micrognathia, Renal hypoplasia, Tented upper lip vermilion, Patent... |
OMIM:618460 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fis... |
OMIM:300514 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate |
ORPHA:2515 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Lobulated tongue |
OMIM:617127 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Aplasia/Hypoplasia affecting the eye, Distal urethral duplication, Rena... |
ORPHA:2549 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Abnormally large globe, Ventricular septal defect, Increased overbite, Cryptorchidism |
OMIM:618504 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Micrognathia, Coarctation of aorta, Oral cleft, Ventricular septal def... |
ORPHA:268249 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Hydroureter, Coarctation of aorta, Ventricular septal defect, Cryptorchidism |
OMIM:616559 |
Lambert Syndrome |
|
Ventricular septal defect, Wide mouth, Hypospadias, Malar flattening |
ORPHA:1296 |
Fanconi Anemia, Complementation Group F |
|
Pelvic kidney, Duodenal atresia, Atrial septal defect, Cryptorchidism, Absent thumb, Decreased re... |
OMIM:603467 |
Baller-Gerold Syndrome |
|
High palate, Anal atresia, Malabsorption, Narrow mouth, Abnormal cardiac septum morphology, Cleft... |
ORPHA:1225 |
Toluene Embryopathy |
|
Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal localization of k... |
ORPHA:1920 |
Vacterl/Vater Association |
|
Anal atresia, Abnormal cardiac septum morphology, Hypoplasia of penis, Cleft palate, Renal agenes... |
ORPHA:887 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney, Bilateral micro... |
OMIM:619318 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Narrow mouth, Micrognathia, Long philtrum, Ventricular septal defect, Patent ductus ... |
OMIM:613457 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Phaver Syndrome |
|
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... |
ORPHA:2876 |
Zellweger Syndrome |
|
High palate, Abnormality of the tongue, Malabsorption, Micrognathia, Hypospadias, Multicystic kid... |
ORPHA:912 |
Joubert Syndrome 14 |
|
Malar flattening, Open mouth, Short philtrum, Renal cyst, Tented upper lip vermilion, Microphthalmia |
OMIM:614424 |
Serkal Syndrome |
|
Pulmonic stenosis, Abnormal penis morphology, Malrotation of small bowel, Abnormality of the adre... |
ORPHA:139466 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Abnormality of bladder morphology, Bicuspid aortic valve, Atrial septal defect, Clef... |
ORPHA:453499 |
Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Congenital megaureter, Tracheoesophageal fistula, Micrognathia, Ab... |
ORPHA:2437 |
Marden-Walker Syndrome |
|
High palate, Narrow mouth, High, narrow palate, Cleft palate, Micropenis, Micrognathia, Hypospadi... |
OMIM:248700 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Short clavicles, Tooth malpos... |
ORPHA:2484 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Micrognathia, Microdontia, Sub... |
ORPHA:3191 |
Coach Syndrome 1 |
|
Wide mouth, Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Vascular dilat... |
OMIM:216360 |
Perlman Syndrome |
|
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Micrognathia, Nephroblastoma, Distal ileal... |
OMIM:267000 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia, Cleft palate, Micrognathia, Microdontia, Non-midline cleft ... |
ORPHA:1915 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Noonan Syndrome 4 |
|
Wide mouth, Dental malocclusion, Atrial septal defect, Pulmonic stenosis, Ureteral duplication, T... |
OMIM:610733 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cryptorchidism, Cleft palate, Micropenis, Hypospadias, Intracranial hemorrh... |
ORPHA:163979 |
Kury-Isidor Syndrome |
|
High palate, Triangular mouth, Long philtrum, Ventricular septal defect, Widely spaced teeth, Ten... |
OMIM:619762 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Stroke, Atrial septal defect, Aminoaciduria, Ventricular septal defect, Sit... |
OMIM:249270 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, Micrognathia, Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale, Microphtha... |
OMIM:618914 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Hypoplasia of penis, Micrognathia, Ventricular septal defect, Patent ductus arteri... |
ORPHA:452 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Short philtrum, Delayed eruption of teeth, Advanced eruption of teeth, Pyloric steno... |
OMIM:619148 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Hydroureter, Hydronephrosis, Diabetes me... |
OMIM:598500 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Hydrolethalus |
|
Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Micromelia, Bifid uvula, Anophthalmia, ... |
ORPHA:2189 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... |
OMIM:619343 |
Takenouchi-Kosaki Syndrome |
|
Dental malocclusion, Wide mouth, Abnormal cardiac septum morphology, Pulmonic stenosis, Unilatera... |
OMIM:616737 |
Char Syndrome |
|
No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted... |
ORPHA:46627 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Renal hypoplasia, Hypoplasia of the m... |
OMIM:246560 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Cryptorchidism, Macroglossia, Malar flattening, Reduced alpha/beta ... |
OMIM:301040 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cleft palate, Splenomegaly, Micrognathia, Hepatosplenomegaly, Renal cyst, Renal cortical microcys... |
OMIM:614866 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Retrognathia, Bifid uvula, Ventri... |
OMIM:612938 |
Eec Syndrome |
|
Tooth agenesis, Taurodontia, Decreased response to growth hormone stimulation test, Cleft palate,... |
ORPHA:1896 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Emanuel Syndrome |
|
High palate, Cleft palate, Delayed eruption of teeth, Ventricular septal defect, Submucous cleft ... |
ORPHA:96170 |
Transaldolase Deficiency |
|
Wide mouth, Atrial septal defect, Splenomegaly, Thin vermilion border, Short philtrum, Hepatosple... |
OMIM:606003 |
Hypoglossia With Situs Inversus |
|
High palate, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis, Microglossia, Polysp... |
OMIM:612776 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Thrombocytopenia |
OMIM:617021 |
17Q12 Microduplication Syndrome |
|
Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia |
ORPHA:261272 |
Koolen-De Vries Syndrome |
|
High palate, Cleft upper lip, Bicuspid aortic valve, Narrow palate, Atrial septal defect, Cleft p... |
OMIM:610443 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Cleft palate, Long philtrum, Renal dysplasia, Downturned corners of mouth, Dee... |
OMIM:618571 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Glycosuria, Ventricular septal defect, Pancreatic hypoplasia, Microc... |
OMIM:600001 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Atrial septal defect, Cleft palate, Small hand, Abnormality of the dentition, Long ... |
OMIM:300968 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
Short Stature-Micrognathia Syndrome |
|
High palate, Cleft palate, Micropenis, Retrognathia, Micrognathia, Hypospadias, Ventricular septa... |
OMIM:617164 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Renal cyst, Meningocele, Microphthalmia, Bile duct prolifer... |
OMIM:603194 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
High palate, Hypoplastic left heart, Thin vermilion border, Micrognathia, Multicystic kidney dysp... |
OMIM:618829 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Recurrent urinary trac... |
ORPHA:93110 |
Cerebellar-Facial-Dental Syndrome |
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Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
Pelvis-Shoulder Dysplasia |
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Cleft palate, Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/Hypoplasia of the fibula... |
ORPHA:2839 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Diamond-Blackfan Anemia 10 |
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Steroid-responsive anemia, Malar flattening, Cleft palate, Micrognathia, Renal duplication, Macro... |
OMIM:613309 |
Urofacial Syndrome 1 |
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Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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High palate, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Bresek Syndrome |
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Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasi... |
ORPHA:85284 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Patent ductus arter... |
OMIM:618974 |
Hardikar Syndrome |
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Hypoplasia of the bladder, Bladder exstrophy, Ventricular septal defect, Esophageal varix, Bile d... |
OMIM:301068 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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High palate, Anal atresia, Atrial septal defect, Cryptorchidism, Intestinal malrotation, Hypospad... |
OMIM:617602 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Congenital Disorder Of Glycosylation, Type Il |
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Wide mouth, Abnormal cardiac septum morphology, Hepatosplenomegaly, Long philtrum, Polycystic kid... |
OMIM:608776 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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High palate, Wide mouth, Hydrocele testis, Proportionate shortening of all digits, Tented upper l... |
ORPHA:280633 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
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Mucoid extracellular matrix accumulation, Micrognathia, Myxomatous mitral valve degeneration, Aor... |
OMIM:130090 |
Floating-Harbor Syndrome |
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Wide mouth, Celiac disease, Short philtrum, 11 pairs of ribs, Microdontia, Carious teeth, Hypopla... |
ORPHA:2044 |
Focal Dermal Hypoplasia |
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Abnormal cardiac septum morphology, Duodenal atresia, Tooth agenesis, Short clavicles, Renal hypo... |
ORPHA:2092 |
Joubert Syndrome 37 |
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High palate, Micropenis, Decreased testicular size, Microphthalmia, Hydronephrosis, Cryptorchidism |
OMIM:619185 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:85275 |
Otopalatodigital Syndrome Type 2 |
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Myelomeningocele, Anodontia, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Mala... |
ORPHA:90652 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Mitral stenosis, Wide mouth, Decreased response to growth hormone stimulation test, Coarctation o... |
OMIM:617260 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Renal cyst |
OMIM:614870 |
Sandestig-Stefanova Syndrome |
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High palate, Muscular ventricular septal defect, Retrognathia, Oral cleft, Microphthalmia, Perime... |
OMIM:618804 |
Orofaciodigital Syndrome Type 1 |
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High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Protei... |
ORPHA:2750 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hyperinsulinemic hypoglycemia, Steatorrhea, Villous atrophy, Renal cyst, Protein-losing enteropat... |
OMIM:602579 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Aortic valve stenosis, Atrial septal defect, Splenomegaly, Intestinal malrotation, Pancreatic fib... |
OMIM:208540 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Biemond Syndrome Type 2 |
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Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism |
ORPHA:141333 |
9Q21.13 Microdeletion Syndrome |
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Downturned corners of mouth, Hydronephrosis, Abnormal tongue morphology, Cryptorchidism, Abnormal... |
ORPHA:531151 |
Filippi Syndrome |
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Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Ventricular septal defect, Serrat... |
OMIM:272440 |
Acrocardiofacial Syndrome |
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Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
Severe Combined Immunodeficiency, X-Linked |
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Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
Microphthalmia, Syndromic 11 |
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Cleft upper lip, Agenesis of pineal gland, Cleft palate, Microphthalmia |
OMIM:614402 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
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Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Atrial Septal Defect 1 |
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Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... |
OMIM:108800 |
Orofaciodigital Syndrome I |
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High palate, Cleft palate, Ovarian cyst, Lobulated tongue, Carious teeth, Hepatic cysts, Tongue n... |
OMIM:311200 |
Harrod Syndrome |
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High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Hypospadias, Malrotation of ... |
OMIM:601095 |
Hyperparathyroidism 2 With Jaw Tumors |
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Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... |
OMIM:145001 |
Holt-Oram Syndrome |
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Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
Ring Chromosome 10 Syndrome |
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Renal hypoplasia/aplasia, Thin vermilion border, Micrognathia, Long philtrum, Microphthalmia, Aga... |
ORPHA:1438 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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High palate, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Alzahrani-Kuwahara Syndrome |
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Atrial septal defect, Hypodontia, Narrow philtrum, Micrognathia, Hypospadias, Pulmonary artery sl... |
OMIM:619268 |
Genitopatellar Syndrome |
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Atrial septal defect, Cryptorchidism, Micrognathia, Multicystic kidney dysplasia, Long philtrum, ... |
ORPHA:85201 |
Warburg Micro Syndrome 1 |
|