Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W... |
OMIM:613807 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextro... |
OMIM:306955 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:615500 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... |
ORPHA:244 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ... |
OMIM:619565 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... |
OMIM:270100 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnorma... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... |
OMIM:314390 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Ch... |
OMIM:617577 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... |
OMIM:608647 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric ... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W... |
OMIM:613808 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal mal... |
OMIM:619657 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:617092 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... |
OMIM:249270 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po... |
OMIM:612776 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death... |
OMIM:608978 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... |
OMIM:619608 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... |
ORPHA:185 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... |
OMIM:244400 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes,... |
ORPHA:3304 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... |
OMIM:609008 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Long fingers, Cleft p... |
OMIM:614294 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Narrow palate, Fe... |
OMIM:617022 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Missing ribs, Camptodactyly of finger, Respir... |
ORPHA:1759 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... |
OMIM:613686 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Cleft palate, Abnormal ao... |
ORPHA:1926 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Decreased nasal nitric oxide, Cili... |
OMIM:615872 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... |
ORPHA:477817 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot... |
ORPHA:1908 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Left superior vena cava drai... |
OMIM:613759 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, High palate, Ant... |
ORPHA:2863 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... |
OMIM:620024 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... |
OMIM:202650 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Pulmonary edema, Transient ischemic ... |
OMIM:115197 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Atrial septal defect, Clinodactyl... |
OMIM:201000 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... |
ORPHA:2257 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... |
OMIM:615994 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Macroglossia, Transposition of the great arteries, Clinodactyly, Patent foramen o... |
OMIM:616789 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal rib morphology, Abnor... |
ORPHA:1354 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Cryptorchidism, Patent ductus ... |
ORPHA:251071 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Short toe, Perimembranous ventricular septal defect, High palate, T... |
OMIM:617877 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ribs |
OMIM:173800 |
Nephronophthisis 2 |
|
Situs inversus totalis, Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia, Enl... |
OMIM:602088 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Epiphyseal stippling, Glosso... |
OMIM:614876 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Rocker bottom foot, Tapered finger, Pericardial effusion, Multiple muscular ven... |
OMIM:620070 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestina... |
OMIM:618316 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Muscular ventricular septal defect, Brachydactyly, Adducted thumb |
OMIM:620062 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Mis... |
OMIM:220210 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... |
ORPHA:1110 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec... |
ORPHA:2255 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia, Pulmonar... |
OMIM:106700 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... |
OMIM:610852 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia |
OMIM:620071 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventr... |
OMIM:618804 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Pagod Syndrome |
|
Death in infancy, Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Pul... |
ORPHA:991 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio... |
OMIM:618619 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... |
OMIM:601612 |
Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Clinodactyly of the 5th finger, Neutrope... |
OMIM:618067 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Ververi-Brady Syndrome |
|
Clinodactyly of the 5th finger, High palate, Transposition of the great arteries, Metaphyseal irr... |
OMIM:617982 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... |
ORPHA:210122 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Clinodactyly of the 5th fing... |
OMIM:179613 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Patent ductus arteriosus, Muscular ventricular septal defect, Velopharyngeal ins... |
ORPHA:363444 |
Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Situs inversus totalis, Hand polydactyly, Foot ... |
ORPHA:475 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,... |
OMIM:618280 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Microglossia, Respiratory distress |
ORPHA:990 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cryptorchidism, Cleft palate, Respiratory insufficiency, Abnormal aort... |
ORPHA:1166 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... |
OMIM:615524 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:2299 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect... |
OMIM:264480 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Muscular ventricular se... |
OMIM:117550 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, High palate |
OMIM:618354 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... |
OMIM:101200 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate, Respiratory insufficiency |
OMIM:615731 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... |
OMIM:313850 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Short middle phalanx of the 5th finger, Shor... |
ORPHA:391641 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... |
ORPHA:99776 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... |
OMIM:614096 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis |
ORPHA:306550 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anu... |
ORPHA:2315 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Dextrocardia, 2-3 finger syndactyly, Tracheoesophageal fistula, Clubbing of toe... |
ORPHA:2437 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Alg12-Cdg |
|
Recurrent respiratory infections, Sandal gap, Intestinal malrotation, Proximal placement of thumb... |
ORPHA:79324 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu... |
OMIM:265380 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Short thumb, Ab... |
ORPHA:401935 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pulm... |
OMIM:619123 |
Renpenning Syndrome |
|
Abnormal thumb morphology, High, narrow palate, Abnormal rib morphology, Cleft palate, Heterotaxy... |
ORPHA:3242 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dystonia, Dysphagia |
OMIM:304700 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aorta, High palate, Atrioventr... |
OMIM:618929 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Short thum... |
OMIM:612561 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Limb dystonia, Aggressive behavior |
OMIM:620270 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Attention deficit ... |
ORPHA:216866 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepat... |
OMIM:616589 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... |
OMIM:620210 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate... |
OMIM:248700 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Recurrent respiratory infections, Ciliary dyskinesia |
ORPHA:1882 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal heart morphology, Hand polydac... |
ORPHA:261197 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficiency, Transposition of the grea... |
OMIM:253800 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Mi... |
ORPHA:3186 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Patent ductus arteriosus, High palate, Toe clinodactyly |
ORPHA:261120 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Short... |
OMIM:618569 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi... |
OMIM:309801 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ... |
ORPHA:2461 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, C... |
ORPHA:2209 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Cryptorchidism, Hy... |
ORPHA:96097 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Gastroesophageal reflux, D... |
OMIM:210710 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin... |
ORPHA:2970 |
Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue... |
ORPHA:564 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, High palate, ... |
OMIM:616652 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Atrial septal d... |
OMIM:312870 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Cryptorchidism, Long fingers, Hip dislocation, Abnormal heart ... |
ORPHA:96092 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... |
OMIM:276950 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous finger ... |
OMIM:614976 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Coxa valga, Cryptorchidism, Postaxia... |
OMIM:301056 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Dilatation of the cer... |
ORPHA:615 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Dysph... |
OMIM:128100 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessel... |
OMIM:601186 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, ... |
ORPHA:1120 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou... |
OMIM:618846 |
Von Willebrand Disease |
|
Venous insufficiency, Deviation of finger, Abnormal mitral valve morphology |
ORPHA:903 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Gastrointestinal dysmotility... |
OMIM:619189 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventricular septal defect, D... |
ORPHA:66634 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Cleft palate, Death in childhood, Camptodactyl... |
OMIM:309500 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... |
ORPHA:2847 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Broad 2nd toe, Pulmonary artery stenosis, Clinodactyly, ... |
OMIM:280000 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Cutaneo... |
OMIM:601005 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Micronodular cirrhosis, Esophageal carcinoma, A... |
ORPHA:139507 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... |
ORPHA:3092 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency |
ORPHA:1909 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy |
OMIM:616277 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb... |
ORPHA:290 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Cryptorchidism,... |
OMIM:256520 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, C... |
ORPHA:565612 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid... |
ORPHA:2326 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Metaphyseal dysplasia, Jaundice, Iron deficiency anemia, Abnormality of the liver, ... |
ORPHA:1667 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Apnea, Cleft palate, Hand polydactyly, Foot polydactyly, Abn... |
ORPHA:220493 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Cardiomegaly, Vascular dilatation, Wide distal femoral m... |
OMIM:613320 |
Congenital Myopathy 8 |
|
Reduced vital capacity, High palate, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double out... |
OMIM:618164 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Anal atresia |
ORPHA:3469 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficie... |
OMIM:610333 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Absent radius, Esophageal atresia, Patent ductus arteriosu... |
OMIM:192350 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death |
OMIM:613730 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Horizontal ribs, Complete atrio... |
OMIM:617925 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux |
ORPHA:250994 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate, Death in childhood... |
OMIM:269920 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short t... |
OMIM:613390 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe... |
OMIM:157800 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Short metacarpal, Ventricular septal defect, Eosinoph... |
OMIM:616651 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... |
OMIM:615508 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
ORPHA:94066 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... |
ORPHA:90308 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... |
ORPHA:31150 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, High, narrow palate, Crypto... |
OMIM:618494 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Finger clinodactyly, Renal artery ste... |
OMIM:602531 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
3C Syndrome |
|
High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal reflux, Atrial septal ... |
ORPHA:7 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, High palate, Prominent fingertip pads, Atrial septal defect, Clinodactyly ... |
OMIM:612474 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abd... |
ORPHA:91387 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... |
OMIM:616898 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... |
OMIM:618974 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi... |
OMIM:606003 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... |
ORPHA:2876 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism... |
ORPHA:452 |
Restrictive Dermopathy |
|
Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplastia of the eccrine sweat glands, Patent du... |
ORPHA:1662 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension |
OMIM:619064 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... |
ORPHA:904 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... |
ORPHA:2008 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Cough, Mediastinal lymphadenopath... |
ORPHA:397 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Lymphadenopathy, Anemia, T... |
ORPHA:858 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Coronary art... |
ORPHA:2041 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Overlapping toe, Cryptorchidism, Pat... |
ORPHA:163956 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri... |
OMIM:618652 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema... |
OMIM:243150 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect, Postaxial polydactyly, Gen... |
OMIM:619142 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... |
OMIM:617478 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Anal atresia, Genu valgum |
ORPHA:1381 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo... |
ORPHA:1335 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... |
OMIM:618142 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis |
ORPHA:1296 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation, Dysphagia |
OMIM:619083 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... |
OMIM:300963 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag... |
ORPHA:93941 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Aplastic anemia, Absent thumb, Esophageal atresia, P... |
OMIM:300514 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... |
ORPHA:99931 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Short foot |
ORPHA:228399 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Cryptorchidism, 2-3 toe syndactyly, High palate, Clinodactyly of the 5... |
ORPHA:3306 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duc... |
ORPHA:2519 |
Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus |
OMIM:129850 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Hypoplas... |
ORPHA:2476 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... |
ORPHA:2256 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,... |
OMIM:243800 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea... |
OMIM:301022 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Inter... |
OMIM:613870 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... |
ORPHA:284169 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic i... |
OMIM:617895 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... |
ORPHA:141127 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept... |
OMIM:620184 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Cleft... |
OMIM:614815 |
Knobloch Syndrome |
|
Lymphangioma, Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Cough, Pericardial effu... |
ORPHA:464329 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C... |
OMIM:615630 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Small hand, Coxa vara, Radioulnar... |
ORPHA:1425 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Flat acetabu... |
OMIM:617159 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Patent ductus arteriosus, Asthma, 2-3 toe syndactyly, Delayed pubic bone ossif... |
OMIM:618162 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Coxa valga, Splenomegaly, Patent ductus arteriosus, Long... |
OMIM:608149 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Postaxial polydactyly, S... |
OMIM:614576 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hepatomeg... |
OMIM:269860 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:252920 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respirat... |
OMIM:618886 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Dextrocardia, Abnormal morphology of ulna, Mi... |
ORPHA:2911 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Abnormal rib mo... |
ORPHA:93267 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... |
ORPHA:2345 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Short hallux, Cryptorchidism, ... |
OMIM:620305 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Beaded ribs, Ca... |
OMIM:616897 |
Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Slender finger, Small hand, Cleft palate, Genu valgum, Hydrocele testis, ... |
ORPHA:1449 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Ventricular septal defect, Secundum atrial septal defect, Metatarsus ad... |
OMIM:249420 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... |
ORPHA:1488 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s... |
OMIM:615355 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, High palate, Ventricular septal defect |
OMIM:314320 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Prea... |
OMIM:263520 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Spl... |
OMIM:600460 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Syndactyly, Ventricular septal de... |
ORPHA:1708 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Cryptorchidism, Dyspnea, Tachypnea, Pulmonic stenosis, Atrial septal d... |
ORPHA:3282 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Cardiomegaly, Tachypnea, Hepatocellula... |
OMIM:201475 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, Cryptorchidism, Patent ductus ... |
OMIM:300166 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Ventricular septal defect, Fifth finger distal phalanx clinodactyly |
ORPHA:3369 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheo... |
ORPHA:1199 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir... |
OMIM:253250 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Recur... |
ORPHA:500159 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Venous malformation |
OMIM:176920 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorch... |
ORPHA:2473 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... |
OMIM:617063 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Tetrasomy 9P |
|
Biliary atresia, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, Bifid uvula, ... |
ORPHA:3310 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Cryptorchidism, Patent ductus arteriosus, Short thumb, 2... |
OMIM:617516 |
Trisomy 8P |
|
Short fourth metatarsal, Abnormal atrioventricular connection, Abnormal lung lobation, Aplasia/Hy... |
ORPHA:264450 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Esophageal atresia, Patent ductus arteriosus, Abnor... |
ORPHA:1305 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Leukemia, Ventricular septal defect, Polydactyly |
OMIM:602501 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Leuk... |
ORPHA:2331 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Fried Syndrome |
|
Hydrocephalus, High palate |
ORPHA:85335 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... |
OMIM:619909 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Respiratory... |
OMIM:600649 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis... |
OMIM:618021 |
Perlman Syndrome |
|
Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Death in infancy, ... |
ORPHA:2308 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, High palate, Clinodactyly of the 5th finger, Tetra... |
OMIM:613398 |
Filippi Syndrome |
|
Ventricular septal defect, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clino... |
OMIM:272440 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... |
OMIM:612562 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Proximal placement of thumb, Prominent fingertip pads, Atrial septal d... |
OMIM:229850 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Cleft pal... |
OMIM:612938 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Supernumerary nipple, Meso... |
ORPHA:46627 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:274000 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Syndactyly, Neonatal respiratory distress, Ventricular septal defect, Int... |
OMIM:605039 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... |
ORPHA:99095 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... |
ORPHA:75389 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Ventricular septal defect, Monkey wrench femoral neck, Patent duct... |
OMIM:618870 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Pl... |
OMIM:235200 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Holopro... |
ORPHA:93274 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism |
OMIM:218350 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Coronary artery calcification, Cardiomegaly, Carotid artery calcif... |
OMIM:208000 |
Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Arachnodact... |
ORPHA:536545 |
Short Stature And Facioauriculothoracic Malformations |
|
Cervical ribs, High palate, Ventricular septal defect, Cleft palate |
OMIM:609654 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... |
OMIM:609029 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Arachnodactyly, Sandal gap, Repeated pneumotho... |
OMIM:617602 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Abnorma... |
ORPHA:3378 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopath... |
OMIM:212140 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dysphagia, Mecke... |
ORPHA:163961 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... |
OMIM:612541 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Macroglossia, Atrial... |
OMIM:615668 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Hip dislocation, Cleft palate, Short 5th finger, C... |
OMIM:615583 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Slender finger, Cleft palate |
OMIM:147800 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Tarp Syndrome |
|
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura... |
OMIM:311900 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Slend... |
ORPHA:329224 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small hand, Short foot, Gastroesophageal reflux... |
OMIM:617450 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var... |
OMIM:619656 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular septal defect, Jaundice, Choles... |
OMIM:613404 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Cryptorchidism,... |
ORPHA:457193 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... |
OMIM:615102 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... |
ORPHA:33276 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Camptodactyly, A... |
OMIM:301039 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dyspnea, Dilated... |
OMIM:614921 |
Hamamy Syndrome |
|
Hypoparathyroidism, Syndactyly, Long toe, Down-sloping shoulders, Microcytic anemia, Tapered fing... |
OMIM:611174 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, P... |
ORPHA:381 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Cleft palate, Anteriorly placed anu... |
OMIM:619980 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatic melanin-like lysosomal... |
OMIM:208085 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
Ivic Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limited interphalangeal moveme... |
OMIM:147750 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Short 2nd toe... |
OMIM:612582 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Ventricular sep... |
ORPHA:96170 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplastic iliac wing, Short ... |
OMIM:208500 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, High palate, Polydac... |
OMIM:618950 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... |
ORPHA:79345 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic l... |
OMIM:235255 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... |
OMIM:121050 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Finger syndactyly, Neonatal respiratory distress, Ventricular sep... |
OMIM:620025 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dysphagia, Titubation, Dystonia, Abnormal posturing |
ORPHA:225147 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring |
OMIM:603387 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Abnormal lung loba... |
ORPHA:508488 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten... |
OMIM:614261 |
Serkal Syndrome |
|
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hep... |
ORPHA:84064 |
Mosaic Trisomy 1 |
|
Long toe, Hepatic agenesis, Broad toe, Toe syndactyly, Ventricular septal defect, Arachnodactyly,... |
ORPHA:1692 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Abnormal lung lobation... |
OMIM:146510 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dyspnea, Dilatation of the ventricular cavity, Coronary arte... |
ORPHA:66529 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... |
OMIM:620113 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom... |
OMIM:616368 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Muscular ventricular septal defect, Coxa vara, Slende... |
OMIM:278250 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate... |
ORPHA:447980 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Extrahepatic biliary duc... |
ORPHA:1458 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto... |
ORPHA:77298 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis, Pa... |
ORPHA:96167 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Cryptorchidism, 2-3 toe... |
ORPHA:404440 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing |
ORPHA:157941 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cryptorchidism, Paten... |
OMIM:244300 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Clinodactyly of t... |
OMIM:220500 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Recurrent respiratory infections, Subarachnoid hemorrhage, Cardiomegaly, Respirator... |
OMIM:232300 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Esophageal atresia, Patent ductus arte... |
OMIM:227646 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Ventricular septal defect, Supernumerary nipple, Cryptorchidism |
OMIM:617635 |
Beck-Fahrner Syndrome |
|
High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Respiratory insufficiency, Pulmonary hypoplasia, Atrial septal defect, Ventriculom... |
ORPHA:2655 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... |
ORPHA:354 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Small hand, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplas... |
OMIM:145420 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Neonatal Lupus Erythematosus |
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Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... |
ORPHA:398124 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/H... |
ORPHA:1834 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulm... |
OMIM:611812 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Pointed proximal second through fifth metacarpals, Coxa valga, Epiphyseal deformiti... |
OMIM:253010 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal lung l... |
OMIM:614114 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral... |
OMIM:616564 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... |
ORPHA:75565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-W... |
OMIM:613153 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Macroglossia, H... |
ORPHA:369891 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Apneic episodes in infancy, Hepatic fibrosis, Portal ... |
OMIM:619111 |
Hand-Foot-Genital Syndrome |
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Shortening of all middle phalanges of the fingers, Ventricular septal defect, Miscarriage, Short ... |
ORPHA:2438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Bi... |
OMIM:611134 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptodactyly of finger, Cryptorchidis... |
ORPHA:261344 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Cryptorchidis... |
OMIM:617452 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Cryptorchidism, Patent... |
OMIM:211750 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Postaxial polydactyly... |
ORPHA:2886 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Atrial septal defect, Bifid uvula |
OMIM:608572 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Foot oligodactyly |
OMIM:601357 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft palate |
ORPHA:398156 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Ventricular septal de... |
ORPHA:261330 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... |
OMIM:231005 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absenc... |
ORPHA:476126 |
Alagille Syndrome |
|
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Cryptorchidism, Abnormal rib mor... |
ORPHA:52 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Mediastinal ... |
ORPHA:3452 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Recurrent respiratory infections, Abnorm... |
ORPHA:280 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Ventricular septal defect, Arachnodactyl... |
ORPHA:505237 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Toe syndactyly, Absence of the pulmonary valve, Ventricular sep... |
OMIM:601808 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pe... |
OMIM:235510 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ... |
ORPHA:75508 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Abnormality of ... |
ORPHA:3376 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Cryptorch... |
ORPHA:3255 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Card... |
OMIM:608836 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... |
ORPHA:79330 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Malabsorption, Pyloric stenosis, Crypt... |
ORPHA:912 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Missing ribs, Pyloric stenosis, Cryp... |
OMIM:147791 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly |
OMIM:614473 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... |
OMIM:608013 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Sandal gap, Tapered finger, Patent ductus arteriosus, 2-3 toe syndacty... |
OMIM:617061 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Supernumerary... |
ORPHA:261494 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Ret... |
OMIM:613309 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Ventricular septal defect, Overlapping toe, Broad distal ... |
ORPHA:464738 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Hip dislocation, Mitral valve prolapse, Congenital bila... |
ORPHA:1900 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Bowing of the legs, Coxa valga, Cryptorchidism, Metaphyseal widening, ... |
OMIM:617164 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Neonatal respiratory distress, Ventricular septal defect, Recurrent aspi... |
ORPHA:79243 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Gastroesophageal reflux,... |
OMIM:616920 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Clinodactyly of the... |
ORPHA:1606 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Cryptor... |
ORPHA:166035 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exertional dyspnea, Hepatic steatosis, Cardiomegaly |
ORPHA:42 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Right ventricular hypertrophy, Abn... |
ORPHA:1677 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Constricting Bands, Congenital |
|
Syndactyly, Abnormal lung lobation, Cleft palate, Hand polydactyly, Ectopia cordis |
OMIM:217100 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
King-Denborough Syndrome |
|
Bilateral cryptorchidism, High palate, Ventricular septal defect, Cryptorchidism |
OMIM:619542 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,... |
OMIM:616777 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency |
OMIM:613680 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl... |
OMIM:136140 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate |
ORPHA:2635 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Gastroesopha... |
ORPHA:494344 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in childhood, Cherry red spot... |
OMIM:268800 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Ogden Syndrome |
|
Ventricular septal defect, Broad hallux, High, narrow palate, Pulmonary artery stenosis, Cryptorc... |
ORPHA:276432 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect,... |
ORPHA:163979 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Esophageal atresia,... |
OMIM:610536 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Preaxial han... |
OMIM:236680 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal defect, Arachnodactyl... |
OMIM:309520 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Splenomegaly, Asthm... |
OMIM:309900 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, D... |
OMIM:618348 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia |
OMIM:241800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Thoracic aortic aneurys... |
ORPHA:365 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Synost... |
ORPHA:1507 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Episodic tachypnea, Per... |
ORPHA:26793 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C... |
OMIM:607361 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Small ha... |
OMIM:300712 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nippl... |
ORPHA:457279 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... |
OMIM:609053 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... |
OMIM:300998 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... |
OMIM:617300 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonar... |
ORPHA:57777 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, High, narrow palat... |
OMIM:158170 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal r... |
OMIM:117650 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegal... |
ORPHA:1655 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Abnormal pericardium morphology, Portal hypertens... |
ORPHA:284 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:300472 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Congenital hip dislocation, Ventricular sept... |
ORPHA:217346 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Cleft palate, Polycystic ovaries, Broad thumb, Brachydactyly |
ORPHA:1770 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Broad hallux, Overlapping toe, Esophageal atresia, Patent ductus arter... |
ORPHA:96149 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, Abnormal morphology of the ... |
ORPHA:488642 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Pyloric stenos... |
OMIM:310400 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Hydrolethalus Syndrome 2 |
|
Cleft palate, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... |
OMIM:153400 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly, Acute leuk... |
ORPHA:2770 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Portal hype... |
OMIM:194050 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Celiac disease, Cryptorchidism, Short thumb, B... |
ORPHA:2044 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous c... |
OMIM:612863 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Cryptorchidism, Cleft... |
ORPHA:254346 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Anterior rib cupping, Metaphyseal widening, Ne... |
OMIM:617941 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Sandal gap, Small hand, Short foot, High palate, Short finger, Radial ... |
OMIM:270450 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th finger, Patent foramen ... |
OMIM:618027 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp... |
ORPHA:453499 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Ventricular septal defect, Aganglionic megacol... |
OMIM:607323 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Short hallux, Miscarriage, Premature ... |
OMIM:245150 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Respira... |
ORPHA:158687 |
Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect |
OMIM:615673 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Patent foramen ovale, Patent ductus ... |
ORPHA:2745 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ... |
OMIM:214100 |
Limb Body Wall Complex |
|
Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A... |
ORPHA:2369 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Respiratory distress, V... |
ORPHA:209905 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... |
OMIM:612284 |
Enlarged Parietal Foramina |
|
Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous malformation |
ORPHA:60015 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Coarse metaphyseal trabecularization, Toe syndactyly, Ventricular septal defec... |
ORPHA:2092 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary... |
OMIM:100300 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ... |
ORPHA:369929 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Alg9-Cdg |
|
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Abnormal left ventricular ... |
ORPHA:79328 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Hydrocephalus, Respiratory insufficiency |
ORPHA:1914 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... |
OMIM:615582 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue,... |
OMIM:616975 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens... |
ORPHA:465508 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Avascul... |
OMIM:222470 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly |
OMIM:266500 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
X Small Rings |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... |
OMIM:271640 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal defect, Crypto... |
ORPHA:2962 |
Pontocerebellar Hypoplasia, Type 8 |
|
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia |
OMIM:614961 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Supernumerary nipple, Cryptorchidism, 3-4 finger cutaneous... |
OMIM:612530 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Abnormality ... |
ORPHA:579 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Pat... |
OMIM:610443 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Bresek Syndrome |
|
Neonatal death, Hydrocephalus, Aganglionic megacolon, Cleft palate |
ORPHA:85284 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Cryptorchidism, Patent ductus art... |
OMIM:616894 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Lymphangioma, Arteriovenous malformation, Ovarian neoplasm |
ORPHA:137608 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal aortic arch morphology, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Atrial se... |
ORPHA:96334 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Cr... |
OMIM:610759 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, 2-3 toe syndactyly, Cleft palate, Furrowed tongue... |
OMIM:616449 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Inspiratory stridor |
OMIM:207950 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Short tibia |
OMIM:620306 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal def... |
ORPHA:508498 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Cleft palate... |
ORPHA:2604 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Pulmonic stenosis, Broad phal... |
OMIM:277600 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... |
ORPHA:79329 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Narrow palate, Mitral valve prolapse, Ulnar deviation ... |
ORPHA:3071 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe syndactyly, Cl... |
OMIM:106260 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly |
ORPHA:391428 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Left ventricular hypertrophy, Pulmonary art... |
OMIM:615474 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Abnormal rib morphology, Cholestasis, Coarctat... |
OMIM:118450 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... |
ORPHA:538 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges ... |
ORPHA:79500 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Cardiomegaly, Cleft palate, Abnormal cardiac septum morp... |
ORPHA:97297 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Overlapping toe, Splenomegaly, Patent ductus arteriosus,... |
OMIM:618268 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... |
OMIM:613001 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal placement o... |
ORPHA:456312 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Respiratory insufficiency, Endocardial fibroelastosis |
ORPHA:2119 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphal... |
ORPHA:124 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hypoplasia of t... |
OMIM:200995 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anteriorly placed anu... |
OMIM:602535 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... |
ORPHA:2470 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Atrial septal defect, ... |
ORPHA:1860 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, High palate |
OMIM:300558 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly, Triphalangeal thumb... |
OMIM:154400 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Cardiomegaly, Thin metatarsal cortices, Thin ribs, Slender long bone, Abnormal th... |
ORPHA:2463 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Pericardial effusion, Cryptorchidism, P... |
OMIM:139210 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:187600 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Ventricular septal defect, Abnormal morp... |
ORPHA:251014 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Dysphagia |
OMIM:618325 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Cleft palate |
ORPHA:398189 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Respiratory tract infection, Hydrocephalus, Hepatosplenomegaly, ... |
ORPHA:93400 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial septal defect, Congenita... |
OMIM:105650 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta, Foot polydactyly, Sho... |
ORPHA:268249 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Hydrocephalus, High, narrow palate, Pyloric stenosis, Midgut... |
ORPHA:2409 |
Dysosteosclerosis |
|
Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization |
ORPHA:1782 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... |
ORPHA:567 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
1Q44 Microdeletion Syndrome |
|
Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ventricul... |
ORPHA:238769 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular... |
OMIM:252500 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Macroglossia, V... |
ORPHA:370959 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Atelosteogenesis Type I |
|
Short femur, Malrotation of colon, Abnormal ossification involving the femoral head and neck, Abn... |
ORPHA:1190 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Patent ductus arteriosus, Short metatarsal, Narrow p... |
OMIM:608328 |
Leopard Syndrome 1 |
|
Missing ribs, Complete atrioventricular canal defect, Cryptorchidism, Cleft palate, Mitral valve ... |
OMIM:151100 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... |
ORPHA:730 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Short thumb, Ventricular septal defect |
OMIM:610832 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal defect, Intestinal ... |
OMIM:244450 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Apnea, Secundum atrial septal defect, Overlapping fingers, Pancreatic hypoplasi... |
OMIM:609069 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Fg Syndrome Type 1 |
|
Anal atresia, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Hydroc... |
ORPHA:93932 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Arachnodactyly, Apnea, Tracheom... |
OMIM:300373 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism |
ORPHA:624 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:617713 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... |
OMIM:619377 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... |
ORPHA:96191 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Cleft palate, Ectopic anus, High palate, C... |
ORPHA:251038 |
Crouzon Syndrome |
|
Narrow palate, Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Cryptorchidism, Dilated cardiomyopathy, H... |
ORPHA:261250 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Cleft palate,... |
ORPHA:1865 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot... |
OMIM:616843 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
B4Galt1-Cdg |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus, Recurrent up... |
ORPHA:1465 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, High, narrow palate, High palate, Gastroesophageal reflux, Phocomeli... |
OMIM:122470 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, High, narrow palate, Cryptorchidism, Small hand, Respiratory insufficiency, Short... |
ORPHA:2108 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Arachnodactyly, T... |
ORPHA:193 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Tracheomalacia, Poste... |
ORPHA:1393 |
Mirage Syndrome |
|
Thrombocytopenia, Hydrocephalus, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Aspir... |
OMIM:617053 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Gastrointestinal dysmotility, 2-3 toe cutaneous syndactyly, Abnormal... |
OMIM:270400 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Nephronophthisis 18 |
|
Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Tapered finger, High, narrow palate, High palate, Gastroesophageal ref... |
OMIM:619312 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Sho... |
OMIM:620076 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Abnormality of neutrophils, Protru... |
ORPHA:2268 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Cryptorchidism, Shortening of all distal phalanges of ... |
OMIM:616202 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hydrocephalus, Abnormal... |
ORPHA:505248 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Broad r... |
ORPHA:798 |
Holoprosencephaly |
|
Brachydactyly, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... |
ORPHA:2162 |
Eisenmenger Syndrome |
|
Respiratory distress, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver, Ba... |
ORPHA:97214 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Chronic rh... |
OMIM:259710 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Postaxial polydactyly, Ventricular septal defect, Cleft palate |
OMIM:614424 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Single interphalangeal crease of fifth finger, Supernumerary nipple, P... |
OMIM:257920 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Pulmonary edema, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2181 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... |
OMIM:134780 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Tracheomalacia, Cryptorchidism, Ac... |
OMIM:150250 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Thrombocytopenia, Leu... |
OMIM:259720 |
Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Coxa valga, Splenomegaly, Vacuolate... |
OMIM:230000 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... |
OMIM:188400 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Prominent inte... |
OMIM:614609 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Cleft... |
OMIM:130720 |
Temple Syndrome |
|
Hydrocephalus, Bifid uvula |
ORPHA:254516 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, High palate, Pleural effusion, Dandy-Walke... |
OMIM:617822 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, H... |
OMIM:180849 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de... |
OMIM:300855 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, 2-3 to... |
OMIM:618454 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic... |
ORPHA:2072 |
Temple Syndrome |
|
Hydrocephalus, High palate, Bifid uvula, Cleft palate |
OMIM:616222 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus, High palate, Dandy-Walker malformation |
OMIM:614846 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Malabsorption, Splenomegaly, Aden... |
ORPHA:581 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Cryptorchidism, Cleft pala... |
ORPHA:261236 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Donnai-Barrow Syndrome |
|
Short sternum, Ventricular septal defect, Intestinal malrotation |
OMIM:222448 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Stillbirt... |
OMIM:243605 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Ventricular septal defe... |
ORPHA:3047 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Unilateral cleft palate, ... |
OMIM:619103 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Broad hallux, Cryptorchidism, Slender finger, Small hand, Cleft palate... |
ORPHA:251028 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... |
OMIM:261740 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... |
OMIM:619488 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Gast... |
OMIM:300000 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi... |
OMIM:253220 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... |
ORPHA:93259 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... |
OMIM:617506 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,... |
OMIM:616482 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Macroglossia,... |
OMIM:618143 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,... |
ORPHA:500095 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Death... |
OMIM:619229 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Abnor... |
ORPHA:2075 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, High, narrow palate, Hepatoblastoma, Clinodactyly of the 5th finger, ... |
ORPHA:373 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Gastroesophageal reflux, Camptodactyly, Atrial septal defect, Clinodac... |
OMIM:617360 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, High palate, Ventriculomegaly |
OMIM:609757 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Metat... |
OMIM:614866 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... |
OMIM:301030 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... |
OMIM:300967 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal heart valve morphology, Abnormality of t... |
ORPHA:93473 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Death in infancy, Pancreatic cysts, Abnormality of the pa... |
ORPHA:1318 |
Orofaciodigital Syndrome I |
|
Syndactyly, Hepatic cysts, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart mo... |
OMIM:311200 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty... |
ORPHA:276280 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Ventriculomegaly |
OMIM:620156 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Tapered finger, Cryptorchidism, Coxa valga, Reduced... |
OMIM:301040 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Cleft palate, Stroke-like episo... |
ORPHA:137675 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohyp... |
ORPHA:116 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Tricuspid valve prolapse, Pulm... |
ORPHA:96129 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda... |
OMIM:613458 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Colpocephaly, High palate, Gastroesophageal reflux, Ventriculomegaly |
OMIM:619833 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Vascular dilatation, Polydactyly, Intrahepatic bile duct dilatation |
OMIM:616307 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Eosinophilia, Abnormality of the spleen, Mediastin... |
ORPHA:228123 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Apnea, Portal hypertension, Congenital hepatic fibrosis, S... |
ORPHA:1454 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defec... |
ORPHA:818 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Rhombencephalosynapsis |
|
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... |
ORPHA:59315 |
Hurler Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrocephalus, Enlarged tonsils, He... |
OMIM:607014 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Overlappin... |
OMIM:616682 |
Tenorio Syndrome |
|
Apnea, Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly |
OMIM:616260 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hydrocephalus, Abnormality of the liver, Increased mean corpuscu... |
ORPHA:2169 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia, Hydrocephalus |
OMIM:602361 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Distal Triplication 15Q |
|
Hydrocephalus, Abnormal heart morphology, High palate, Pulmonary hypoplasia, Atrial septal defect... |
ORPHA:314588 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
Desmosterolosis |
|
Intestinal malrotation, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmo... |
ORPHA:35107 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Missing ribs, Esophageal atresia, Paten... |
OMIM:206900 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hyp... |
ORPHA:3309 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Occipital Horn Syndrome |
|
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho... |
ORPHA:198 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, High, narrow palate, Hydrocephalus, He... |
ORPHA:228308 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ... |
OMIM:239300 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Ventricular septal defect, Decreased response to growth hormone stim... |
ORPHA:488632 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Missing ... |
ORPHA:97360 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Cryptorchidism, Thrombocyto... |
OMIM:227645 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abdominal situs inversus |
ORPHA:2062 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation |
ORPHA:459061 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Esophageal atresia, Cryptorchidism, Postaxial... |
ORPHA:3380 |
Trisomy 17P |
|
Hydrocephalus, Cleft palate, Macroglossia, High palate, Hypoplastic left heart, Aortic valve sten... |
ORPHA:261290 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal pattern of res... |
ORPHA:220497 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent ductus a... |
ORPHA:444077 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodac... |
ORPHA:1106 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ... |
OMIM:107480 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... |
OMIM:250410 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Tarsal synostosis, Cleft palate, Cutaneous finger syn... |
OMIM:178110 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Broad hallux, Cryptorchidis... |
ORPHA:353281 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform... |
OMIM:217090 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertrophy |
ORPHA:90065 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Abnormal lung lobation, Atrial septal defect, Atrioventricular canal def... |
ORPHA:672 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormal hip joint morphology, Respiratory distress, Medial calcificatio... |
ORPHA:51608 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... |
OMIM:272950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Ventricular septal defect, Apnea, Stridor, High palate, Gastroesop... |
OMIM:614653 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, 2-3 toe syndactyly, High palate, Gastroesoph... |
OMIM:606232 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Anemia |
ORPHA:53 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ... |
ORPHA:90307 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short toe... |
ORPHA:1519 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Ventricular septal defect, Anterior pituitary hypoplasia, Arachnod... |
ORPHA:464306 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:352665 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:225790 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Tachypnea |
ORPHA:2318 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Cleft palate, Abnor... |
ORPHA:2166 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Dyspn... |
ORPHA:391665 |
Renal Agenesis |
|
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, Dislocated radial head... |
OMIM:143095 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Tapered finger, Cryptorchidism, Mitral valve prolapse, Ascending tubul... |
ORPHA:444072 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp... |
OMIM:557000 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy, Small hand |
OMIM:614947 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation, Anal atresia |
ORPHA:3301 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate |
ORPHA:2180 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hi... |
OMIM:163950 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Thrombocytopenia |
OMIM:259700 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, M... |
ORPHA:1546 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Intestina... |
OMIM:147920 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
H Syndrome |
|
Microcytic anemia, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Hepatospl... |
ORPHA:168569 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Abnormal lung lobation, High palate, Gastroesophageal reflux, Atrial septa... |
OMIM:607872 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macr... |
OMIM:617107 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Proximal placement of thumb, Coxa valga, Protruding tongue, Slender lo... |
OMIM:212066 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mit... |
ORPHA:955 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:617140 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Broad hallux, 1-2 toe syndactyly, Tapered finger, Partial anomalous pu... |
OMIM:301044 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Aspiration, Pa... |
ORPHA:353277 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septa... |
OMIM:616546 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection... |
OMIM:253200 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Cryptorchidism, Pulmonary a... |
OMIM:258315 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Hydrolethalus |
|
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula |
ORPHA:2189 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Lateral Meningocele Syndrome |
|
High, narrow palate, High palate, Ventricular septal defect, Cryptorchidism |
ORPHA:2789 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Short toe, S... |
ORPHA:464311 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Sandal gap, Macrodactyly, Venous malformation |
OMIM:612918 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Intestinal... |
OMIM:249000 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Tapered finger, Increased femoral anteversion, ... |
OMIM:609460 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Narrow palate, Cleft palate, An... |
ORPHA:1555 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchidism, Gastroesophageal r... |
OMIM:616268 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bi... |
ORPHA:466791 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... |
OMIM:616263 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Thrombocytopenia, Respiratory insufficiency |
ORPHA:1237 |
Apert Syndrome |
|
Esophageal atresia, Hydrocephalus, Respiratory insufficiency, Narrow palate, Cleft palate, Ectopi... |
ORPHA:87 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... |
OMIM:187300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... |
ORPHA:438213 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Thro... |
OMIM:619525 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Microcy... |
OMIM:256040 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, High palate, Respiratory insufficiency |
OMIM:620351 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... |
OMIM:130050 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen... |
ORPHA:667 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Macrodactyly, Venous malformation |
ORPHA:168984 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Hydrocephalus, Abnormality of the lymphatic system, Abnormal heart morphology, Chyloth... |
ORPHA:137667 |
Pontocerebellar Hypoplasia, Type 7 |
|
High palate, Hydrocephalus, Apnea, Ventriculomegaly |
OMIM:614969 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Foot... |
OMIM:102500 |
Vici Syndrome |
|
Macular atrophy, Ocular albinism, Macular hypoplasia, Dysphagia, Abnormal posturing, Hypopigmenta... |
OMIM:242840 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial septal defect, Leukemia,... |
OMIM:257300 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, P... |
OMIM:619575 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly |
OMIM:617866 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Intestinal malrotation, Pyloric stenosis, Hydrocephalus, Cleft palate, Abnormal he... |
OMIM:305450 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Tracheomalacia, Pyloric steno... |
OMIM:218040 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Patent ductus arteriosus, Long fingers... |
ORPHA:96121 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cleft palate, Gl... |
ORPHA:90652 |
Coffin-Siris Syndrome 1 |
|
Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodactyly of the 5th ... |
OMIM:135900 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Dysplastic tricuspid valve, Cl... |
ORPHA:1724 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Respiratory failure, Hepatic fibrosi... |
ORPHA:14 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High ... |
ORPHA:769 |
Joubert Syndrome 2 |
|
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... |
OMIM:608091 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Hypoplastic distal radial epiphyses... |
OMIM:182250 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Leukemia, Hydrocephalus |
OMIM:619951 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Livedoid Vasculopathy |
|
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... |
ORPHA:542643 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... |
ORPHA:2729 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Asthma, Hydrocephalus, Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered finger, Cryptorchidis... |
ORPHA:261337 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus |
OMIM:615249 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Submucous cleft hard palate, Cleft palate, Dandy-Walker malformation, Bifid uvula,... |
ORPHA:899 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, High palate, Absent hallux, Aspiration pneumonia, P... |
OMIM:216340 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Cleft palate, Pineal cyst, R... |
ORPHA:513456 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, P... |
OMIM:115150 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Hepatic calcification, Cardiomyopathy |
ORPHA:157 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
Trichothiodystrophy |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Recurrent bronchopulmonary infect... |
ORPHA:33364 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa... |
OMIM:616914 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Ventricular septal defect, Tapered finger, Cryptorchidism, Dilatation of the vent... |
ORPHA:459070 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Brachydactyly, Tarsal synostosis, Hamartoma of tongue, Pancreatic cysts, Abnor... |
ORPHA:2750 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Inflammation of the large intestine... |
OMIM:232220 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie... |
ORPHA:536467 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Abnormal lung lobation |
OMIM:617667 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Gastroesophageal reflux, Hydrocephalus, High palate |
OMIM:612940 |
Leigh Syndrome |
|
Ventricular septal defect, Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Neutrope... |
ORPHA:506 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, High palate, Pulmon... |
ORPHA:1600 |
Dubowitz Syndrome |
|
Anal stenosis, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Asthma, Hydrocephalus... |
ORPHA:235 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus |
ORPHA:15 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Aplasia of the distal phalanx of the... |
OMIM:608670 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
ORPHA:585 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Hydrocephalus, Submuc... |
ORPHA:1340 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy,... |
ORPHA:79282 |
Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cryptorchidism, Patent ductus arter... |
OMIM:615948 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Upper airway obstruction |
OMIM:207410 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Prominent fingertip pads, Anomaly of lower limb diaphyses, Recurrent respiratory infections, Bicu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Prominent fingertip pads, Anomaly of lower limb diaphyses, Recurrent respiratory infections, Bicu... |
ORPHA:363958 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hy... |
ORPHA:84 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Broad hallux, Hamartoma of tongue, Deviation of the hallux, Bilateral ... |
ORPHA:434179 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Submucous cleft hard palate, ... |
ORPHA:1071 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Anemia |
OMIM:612301 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Bifid uv... |
OMIM:123790 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... |
OMIM:619727 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rib segmentation abnormalities, Ventricular septal defect, Pseudoepiphyses of t... |
OMIM:194190 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Penile Agenesis |
|
Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... |
ORPHA:49 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Calcification of the aorta, Aortic aneurysm, ... |
ORPHA:51 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation... |
OMIM:613884 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Malabsorption, Venous i... |
ORPHA:565 |
Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Hypoplasti... |
OMIM:606170 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
Achondroplasia |
|
Respiratory distress, Hydrocephalus, Upper airway obstruction, Pulmonary hypoplasia |
OMIM:100800 |
Peho Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Macrodactyly, Venous malformation |
OMIM:613089 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Abnorm... |
ORPHA:449432 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, High palate, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate,... |
ORPHA:268261 |
Raine Syndrome |
|
Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, Neonatal death |
OMIM:259775 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, High palate |
OMIM:616294 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal salivary gland morphology |
ORPHA:31 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Retinal degeneration, Tremor, Optic atrophy, Phonic tics, Choreoathetosi... |
OMIM:234200 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hyp... |
OMIM:268300 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Alobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, Bifid ... |
ORPHA:220386 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia,... |
OMIM:130650 |
47,Xyy Syndrome |
|
Asthma, Hydrocephalus |
ORPHA:8 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... |
ORPHA:580 |
Desmosterolosis |
|
Cleft palate, Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly |
OMIM:602398 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus, Gastroesophageal reflux, Splenic cyst, Ventric... |
OMIM:618188 |
Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hydrocephalus |
OMIM:620155 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Cryptorchidism, High palate, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:607721 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Abnormal digit morphology, Arteriovenous malformatio... |
ORPHA:83454 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p... |
ORPHA:892 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Protruding tongue, High, narrow palate, Hydrocephalu... |
OMIM:612289 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cleft palate, Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Cleft palate |
OMIM:224400 |
Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... |
OMIM:273395 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Supernumerary nipple, P... |
OMIM:235730 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, High palate, Mitral valve prolapse |
OMIM:104350 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, High, narrow palate, Mitral valve prolapse, Abnormal aortic v... |
ORPHA:2462 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Cryptorchidism, Short thumb, Small hand, Anteriorly placed anus, Shor... |
OMIM:268400 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellu... |
OMIM:614083 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Tracheobronchomalacia, ... |
OMIM:114290 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ankyloglossia |
ORPHA:250989 |
15Q Overgrowth Syndrome |
|
High, narrow palate, Hydrocephalus, High palate, Pulmonary arterial hypertension, Bifid uvula, Da... |
ORPHA:314585 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... |
OMIM:109400 |
Pfeiffer Syndrome |
|
Hydrocephalus, High palate |
OMIM:101600 |
Mohr Syndrome |
|
Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue |
OMIM:252100 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, High palate |
OMIM:182212 |
Medulloblastoma |
|
Neoplasm of the lung, Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
Crouzon Syndrome |
|
Hydrocephalus, High palate |
OMIM:123500 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Ventriculomegaly |
OMIM:613150 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Dysphagia |
ORPHA:58 |
Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Hydrocephalus, High palate, Spina bifida |
OMIM:613776 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, High palate |
OMIM:618590 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger... |
ORPHA:199 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitra... |
ORPHA:363700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal atresia, Dandy-W... |
OMIM:236670 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:613603 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Resp... |
ORPHA:2556 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Myelomeningocele, Hydrocephalus, Cleft palate... |
OMIM:219000 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Endocrine-Cerebroosteodysplasia |
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Hydrocephalus, Median cleft palate, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
Dural Sinus Malformation |
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Myelopathy, Hydrocephalus |
ORPHA:97339 |
Cerebrooculonasal Syndrome |
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Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation... |
OMIM:605627 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate |
ORPHA:300570 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon... |
OMIM:609192 |
Mend Syndrome |
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Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve stenosis, Dandy... |
ORPHA:401973 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Cleft palate, Short finger, Broad finger, Broad phalanx of the toes |
ORPHA:1934 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Anteriorly placed anus, Camptodactyly of 2nd-5th fingers, Apneic epis... |
OMIM:601803 |
Aymé-Gripp Syndrome |
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Pericarditis, Pericardial effusion, Hydrocephalus, Cleft palate, Ventriculomegaly |
ORPHA:1272 |
Peters-Plus Syndrome |
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Syndactyly, Short metacarpal, Ventricular septal defect, Bilobate gallbladder, Proximal placement... |
OMIM:261540 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc... |
ORPHA:168577 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia |
ORPHA:25 |
Sturge-Weber Syndrome |
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Hydrocephalus, Dysphagia, Pulmonary embolism |
ORPHA:3205 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Hydrocephalus, Achalasia |
OMIM:616007 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Ventricular septal defect, Tapered finger, Cryptorchidism, Patent ductus arteriosus, S... |
OMIM:619522 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Atrial septal defect, Hydrocephalus, High palate, Aqueductal stenosis |
OMIM:619512 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Functioning Gonadotropic Adenoma |
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Hydrocephalus |
ORPHA:91348 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Neonatal respiratory distress, Ventriculomegaly, Intestinal obst... |
ORPHA:666 |
Cousin Syndrome |
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Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate |
OMIM:260660 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Cleft hard palate, Asplenia, Calcaneovalgus deformity, Abnormality of the ... |
ORPHA:261552 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, Short u... |
OMIM:619475 |
Monosomy 9Q22.3 |
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Hydrocephalus, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
Craniofacial Microsomia 1 |
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Ventricular septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Cleft ... |
OMIM:164210 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Kabuki Syndrome |
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Hydrocephalus, Cleft palate, Abnormal cardiac septum morphology, High palate, Ventriculomegaly |
ORPHA:2322 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Sandal gap, Long fingers, Asthma, Recurrent pneumonia, Cutaneous synda... |
OMIM:620330 |
Fetal Akinesia Deformation Sequence 1 |
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High, narrow palate, Hydrocephalus, Cleft palate, Stillbirth, High palate, Pulmonary hypoplasia |
OMIM:208150 |
Lhermitte-Duclos Disease |
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Macroglossia, Hydrocephalus |
ORPHA:65285 |
Pseudoaminopterin Syndrome |
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Asplenia, High palate, Hydrocephalus, Patent foramen ovale |
ORPHA:221120 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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High, narrow palate, Hydrocephalus, Anteriorly placed anus, Stillbirth, Gastroesophageal reflux |
ORPHA:95699 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdo... |
ORPHA:805 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent... |
ORPHA:309282 |
Osteoporosis-Pseudoglioma Syndrome |
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Metaphyseal widening, Ventricular septal defect, Tibial bowing |
OMIM:259770 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus ... |
ORPHA:821 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus |
ORPHA:1064 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... |
ORPHA:93111 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hydrocephalus |
OMIM:101800 |
Peters Plus Syndrome |
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Intestinal fistula, Hydrocephalus, Bicuspid pulmonary valve, Spina bifida occulta, Cleft palate, ... |
ORPHA:709 |
Mend Syndrome |
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Aortic valve stenosis, High palate, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Loeys-Dietz Syndrome 2 |
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Spontaneous pneumothorax, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydr... |
OMIM:610168 |
Pancreatic Agenesis 2 |
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Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea |
OMIM:615935 |
Baller-Gerold Syndrome |
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Anomalous splenoportal venous system, Hydrocephalus, Cleft palate, Abnormal heart morphology, Ant... |
OMIM:218600 |
Craniorachischisis |
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Bifid sternum, Anal atresia |
ORPHA:63260 |
Oeis Complex |
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Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis... |
OMIM:258040 |
Laurin-Sandrow Syndrome |
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Hydrocephalus |
ORPHA:2378 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Hip ... |
ORPHA:285 |
Proboscis Lateralis |
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High palate, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus |
ORPHA:2050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Intestinal malrotation, Cleft soft palate, Leukocytosis, Hydrocephalus, Hepatic steatosis |
OMIM:619321 |
Hypoplasminogenemia |
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Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation |
ORPHA:722 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Hydrocephalus |
ORPHA:220295 |
Meningioma |
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Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi... |
ORPHA:2495 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect, Hydrocephalus, Hypopl... |
OMIM:264090 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory failure, Stillb... |
OMIM:304120 |
Lenz-Majewski Hyperostotic Dwarfism |
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High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2658 |
Holoprosencephaly 9 |
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Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, Short hard palate |
OMIM:610829 |
Cockayne Syndrome A |
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Hepatomegaly, Splenomegaly, Thymic hormone decreased, Normal pressure hydrocephalus, Ventriculome... |
OMIM:216400 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal h... |
ORPHA:322 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, High palate, Ventriculomegaly |
OMIM:617011 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Epistaxis, Asthma, Mild fetal ventriculomegaly, Ankyloglossia, Paten... |
OMIM:619841 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Focal Dermal Hypoplasia |
|
Intestinal malrotation, Hiatus hernia, Hydrocephalus, Myelomeningocele, Cleft palate, Anteriorly ... |
OMIM:305600 |
Coffin-Siris Syndrome 12 |
|
Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydro... |
OMIM:619325 |
Cockayne Syndrome B |
|
Splenomegaly, Hepatomegaly, Normal pressure hydrocephalus |
OMIM:133540 |
Neurofibromatosis Type 1 |
|
Neoplasm of the gastrointestinal tract, Leukemia, Hydrocephalus, Chronic myelogenous leukemia |
ORPHA:636 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, High palate, Ventriculomegaly |
ORPHA:457359 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Congenital malformation of the left heart, Pulmonic stenosis, Submucous cleft soft... |
ORPHA:3455 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Anemia |
ORPHA:3042 |
Norrie Disease |
|
Venous insufficiency, Cryptorchidism |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Hydrocephalus |
OMIM:175780 |
Dyslexia, Susceptibility To, 1 |
|
|
OMIM:127700 |