Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... |
OMIM:132900 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:616267 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... |
OMIM:208920 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:617349 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Fibromuscular Dysplasia, Arterial |
|
Stroke, Arterial fibromuscular dysplasia, Aortic dissection |
OMIM:135580 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Action tremor, Hyperuricemia |
ORPHA:77296 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... |
OMIM:277460 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... |
ORPHA:247585 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... |
OMIM:618780 |
Tricuspid Atresia |
|
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... |
ORPHA:1209 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:615779 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection |
OMIM:616166 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... |
OMIM:613854 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Conotruncal Heart Malformations |
|
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... |
OMIM:217095 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Webbed neck, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Coarctation of aorta |
OMIM:616069 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery |
ORPHA:1166 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... |
ORPHA:91387 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries |
ORPHA:261243 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... |
ORPHA:449400 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... |
OMIM:614823 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:601612 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... |
ORPHA:860 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... |
ORPHA:99050 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus |
ORPHA:1455 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Recurrent skin infections |
OMIM:620210 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology |
ORPHA:3222 |
Noonan Syndrome 9 |
|
Webbed neck, Coarctation of aorta |
OMIM:616559 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:615502 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Transposition of the great arteries, Abnormal aortic morphology, Abnormality... |
ORPHA:1926 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... |
OMIM:620294 |
Scimitar Syndrome |
|
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Anomalous origin of left coronary arter... |
ORPHA:185 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
Transaldolase Deficiency |
|
Coarctation of aorta |
ORPHA:101028 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Phace Association |
|
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... |
OMIM:606519 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... |
OMIM:617205 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Partial Atrioventricular Septal Defect |
|
Tetralogy of Fallot, Transient ischemic attack, Coarctation of aorta, Double outlet right ventric... |
ORPHA:1330 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Loeys-Dietz Syndrome 6 |
|
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... |
OMIM:619656 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Holt-Oram Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:392 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Generalized arterial tortuosity, Ischemic stroke, Pulmonary artery stenosis... |
OMIM:208050 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
8P23.1 Microdeletion Syndrome |
|
Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery stenosis, Transposition of the ... |
ORPHA:251071 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:284169 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... |
OMIM:619702 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta |
ORPHA:2876 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Persistent left superior vena cava, Coarctation of aorta |
OMIM:618494 |
Double Outlet Right Ventricle |
|
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Pul... |
ORPHA:3426 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosis, Aortic ane... |
ORPHA:3342 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:614857 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... |
OMIM:614816 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
2Q37 Microdeletion Syndrome |
|
Eczematoid dermatitis, Abnormal aortic morphology |
ORPHA:1001 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Craniofaciofrontodigital Syndrome |
|
Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Stroke, Coarctation of ... |
ORPHA:363705 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:1120 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
You-Hoover-Fong Syndrome |
|
Double aortic arch, Coarctation of aorta, Vascular ring |
OMIM:616954 |
Meacham Syndrome |
|
Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Persistent left superior vena cava, Coa... |
OMIM:608978 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... |
ORPHA:845 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return |
ORPHA:261183 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Thin skin |
OMIM:617602 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... |
OMIM:208530 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
Cardiac Diverticulum |
|
Pulmonary artery hypoplasia, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... |
ORPHA:1686 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... |
ORPHA:60030 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Webbed neck, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Hy... |
OMIM:617506 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Asparagine Synthetase Deficiency |
|
Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
Transaldolase Deficiency |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:606003 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... |
OMIM:175050 |
Fryns Syndrome |
|
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology |
ORPHA:2059 |
Fixed Subaortic Stenosis |
|
Coarctation of aorta, Patent ductus arteriosus, Ascending tubular aorta aneurysm |
ORPHA:3092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Aortic dissection, Abnormal venous morphology, Aortic aneurysm, Vascular dil... |
ORPHA:1900 |
Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Tetralogy of Fallot, Truncus arteriosus, Coarctati... |
OMIM:601186 |
Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus |
OMIM:617159 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Giant Cell Arteritis |
|
Vasculitis, Abdominal aortic aneurysm, Aortic dissection, Double outlet right ventricle with subp... |
ORPHA:397 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Tetralogy of Fallot, Coarctation of aorta, Conotruncal defect |
ORPHA:96147 |
Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... |
ORPHA:402075 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Coarctation of aorta |
OMIM:600987 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta |
OMIM:614300 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Meacham Syndrome |
|
Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Transposition of the great arterie... |
ORPHA:3097 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Coarctation of aorta |
OMIM:618929 |
Lowry-Maclean Syndrome |
|
Coarctation of aorta |
ORPHA:2409 |
Alport Syndrome |
|
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology |
ORPHA:63 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Double outlet right ventricle |
ORPHA:371428 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Noonan Syndrome 10 |
|
Webbed neck, Coarctation of aorta, Patent ductus arteriosus |
OMIM:616564 |
Kleefstra Syndrome |
|
Tetralogy of Fallot, Pulmonary artery stenosis, Coarctation of aorta |
ORPHA:261494 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Aortic root aneurys... |
OMIM:620025 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Vascular dilatation, Varicose veins |
OMIM:618343 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:300514 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... |
ORPHA:980 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Fg Syndrome Type 1 |
|
Coarctation of aorta |
ORPHA:93932 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Coarctation o... |
OMIM:270100 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:2396 |
Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta, Thin skin |
OMIM:244450 |
Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus |
ORPHA:2008 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarctation of aorta |
ORPHA:2780 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... |
OMIM:306955 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Interrupted aortic arch, Pulmonary artery dilatation, Tetralogy of Fallot, Pulmonary artery steno... |
OMIM:265380 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coarctation of aorta |
OMIM:163200 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery |
OMIM:600460 |
Phace Syndrome |
|
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... |
ORPHA:42775 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Coarctation of aorta |
ORPHA:1692 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... |
OMIM:300989 |
Loeys-Dietz Syndrome 3 |
|
Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatation of the cerebral ar... |
OMIM:613795 |
Noonan Syndrome 2 |
|
Webbed neck, Pulmonary artery stenosis, Coarctation of aorta, Abnormal coronary artery origin, Pa... |
OMIM:605275 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Marfan Syndrome |
|
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Aortic... |
ORPHA:558 |
Kabuki Syndrome 2 |
|
Coarctation of aorta |
OMIM:300867 |
Holoprosencephaly |
|
Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:2162 |
Mosaic Variegated Aneuploidy Syndrome |
|
Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1052 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:617260 |
Maternal Phenylketonuria |
|
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle |
ORPHA:2209 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta |
OMIM:614114 |
Fanconi Anemia |
|
Arteriovenous malformation, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal carotid art... |
ORPHA:84 |
Viss Syndrome |
|
Iliac artery aneurysm, Pulmonary artery aneurysm, Atopic dermatitis, Aortic root aneurysm, Eczema... |
OMIM:619472 |
Opitz Gbbb Syndrome |
|
Persistent left superior vena cava, Coarctation of aorta, Aortic root aneurysm, Patent ductus art... |
ORPHA:2745 |
Autosomal Recessive Robinow Syndrome |
|
Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1507 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta |
OMIM:614921 |
Galloway-Mowat Syndrome 3 |
|
Coarctation of aorta |
OMIM:617729 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:17 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:618454 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, A... |
ORPHA:284984 |
Pseudotrisomy 13 Syndrome |
|
Coarctation of aorta |
OMIM:264480 |
Aortic Arch Interruption |
|
Truncus arteriosus, Patent ductus arteriosus, Aortopulmonary window, Transposition of the great a... |
ORPHA:2299 |
Jacobsen Syndrome |
|
Webbed neck, Coarctation of aorta, Eczematoid dermatitis |
ORPHA:2308 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery |
ORPHA:991 |
Noonan Syndrome |
|
Pulmonary artery stenosis, Webbed neck, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:648 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries |
OMIM:617557 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Seborrheic dermatitis, Patent ductus arteriosus |
OMIM:274000 |
Toriello-Carey Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:3338 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Arteritis, Abnormal aortic morphology |
ORPHA:449395 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus |
ORPHA:508498 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:1708 |
Orofaciodigital Syndrome Vi |
|
Coarctation of aorta |
OMIM:277170 |
Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Coarctation of aorta, Patent ductus arteriosus, Double outlet ri... |
ORPHA:1596 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Ischemic stroke, Aortic dissection, Cerebral hemorrhage |
ORPHA:90068 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Coarctation of aorta, Patent ductus arteriosus |
OMIM:600268 |
Nicolaides-Baraitser Syndrome |
|
Coarctation of aorta, Eczematoid dermatitis |
OMIM:601358 |
Hardikar Syndrome |
|
Pulmonary artery stenosis, Coarctation of aorta, Partial anomalous pulmonary venous return, Pruri... |
OMIM:301068 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Peripheral arterial stenosis, Abnormal aortic morphology |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
|
Peripheral arterial stenosis, Abnormal aortic morphology |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Peripheral arterial stenosis, Abnormal aortic morphology |
ORPHA:217093 |
Meckel Syndrome, Type 1 |
|
Webbed neck, Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus |
OMIM:249000 |
Diamond-Blackfan Anemia |
|
Webbed neck, Coarctation of aorta, Radial artery aplasia |
ORPHA:124 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Patent ductus arteriosus |
OMIM:614557 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta |
ORPHA:268249 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Ascending tubular aorta ane... |
OMIM:154700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... |
ORPHA:99413 |
Turner Syndrome |
|
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... |
ORPHA:881 |
Mosaic Monosomy X |
|
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... |
ORPHA:99228 |
Monosomy X |
|
Arterial dissection, Webbed neck, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angio... |
ORPHA:99226 |
Vascular Ehlers-Danlos Syndrome |
|
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... |
ORPHA:286 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventricle, Patent ductus arte... |
OMIM:618164 |
Rubinstein-Taybi Syndrome 1 |
|
Aortic isthmus hypoplasia, Persistent left superior vena cava, Coarctation of aorta, Patent ductu... |
OMIM:180849 |
Esophageal Atresia |
|
Tetralogy of Fallot, Coarctation of aorta |
ORPHA:1199 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Coarctation of aorta |
OMIM:620066 |
Osteogenesis Imperfecta |
|
Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneurysm, Cerebral hemorrhage |
ORPHA:666 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Webbed neck, Coarctation of aorta |
ORPHA:1772 |
Diamond-Blackfan Anemia 1 |
|
Webbed neck, Coarctation of aorta |
OMIM:105650 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Coarctation of aorta,... |
ORPHA:90348 |
Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
Smith-Lemli-Opitz Syndrome |
|
Coarctation of aorta, Eczematoid dermatitis, Patent ductus arteriosus |
OMIM:270400 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Arterial calcification, Medial calcification of large arteries, Transient isch... |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Pulmonary artery stenosis, Coarctation of aort... |
ORPHA:99125 |
Myhre Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:139210 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Coarctation of aorta, Transposition of the great arteries, Patent ductus arte... |
OMIM:612474 |
17Q11 Microdeletion Syndrome |
|
Webbed neck, Dilatation of the cerebral artery, Abnormal internal carotid artery morphology, Rena... |
ORPHA:97685 |
Kabuki Syndrome |
|
Coarctation of aorta |
ORPHA:2322 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:618748 |
Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Dystonia, Exaggerated startle response |
ORPHA:438213 |
8Q24.3 Microdeletion Syndrome |
|
Hypoplastic aortic arch, Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus |
ORPHA:508488 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... |
OMIM:619329 |
Robinow Syndrome |
|
Coarctation of aorta |
ORPHA:97360 |
Floating-Harbor Syndrome |
|
Atopic dermatitis, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Noonan Syndrome 1 |
|
Webbed neck, Coarctation of aorta, Patent ductus arteriosus |
OMIM:163950 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:619480 |
Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta |
OMIM:301022 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Coarctation of aorta, Patent ductus arteriosus, Vascular ring |
ORPHA:353281 |
Ctcf-Related Neurodevelopmental Disorder |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:363611 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:210710 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Coarctation of aorta, Patent ductus arteriosus, Vascular ring, Abnormal subclavian artery morphology |
ORPHA:353277 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:617088 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta |
ORPHA:2044 |
Femoral-Facial Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Truncus arteriosus |
OMIM:134780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Coarctation of aorta, Bilateral superior vena cava |
OMIM:220111 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Kabuki Syndrome 1 |
|
Coarctation of aorta |
OMIM:147920 |
Pallister-Hall Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:672 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta, Abnormality of the pulmonary a... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of ... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Pulmonary artery sling |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Webbed neck, Coarctation of aorta, Patent ductus arteriosus |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Tetralogy of Fallot, Coarctation of aorta, Right aortic arch, Patent ductus arteriosus |
OMIM:164210 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm |
OMIM:130000 |
Classical Ehlers-Danlos Syndrome |
|
Dilatation of the cerebral artery, Arterial dissection, Aortic root aneurysm, Arteriovenous fistula |
ORPHA:287 |