| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... |
ORPHA:229 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... |
OMIM:612422 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... |
OMIM:615583 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... |
ORPHA:1131 |
| Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
| Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Vasculitis, Arterial stenosis, ... |
ORPHA:3287 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... |
OMIM:619825 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor, Sensorineural hearing impairment |
OMIM:612989 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Microphthalmia, Elevated circulating creatine kinase ... |
OMIM:615181 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... |
ORPHA:60041 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasi... |
ORPHA:137634 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Sensorineural hearing impairment, Pallor, Atrial septal... |
ORPHA:49827 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor, Hearing impairment |
OMIM:500007 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation, Sensorineural hearing impairment, Protruding... |
ORPHA:435938 |
| Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
| Rin2 Syndrome |
|
Umbilical hernia, Aortic aneurysm |
ORPHA:217335 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Vitreous floaters |
ORPHA:85447 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... |
OMIM:620070 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... |
OMIM:619657 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... |
OMIM:113650 |
| Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
| Branchiootic Syndrome |
|
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... |
ORPHA:52429 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... |
ORPHA:2162 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Cardiac ... |
ORPHA:85451 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse, Aortic aneurysm |
ORPHA:115 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Optic Atrophy 11 |
|
Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Cherry red spot of the macu... |
OMIM:617302 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Short neck, Conductive hearing impairment, Pallor, Atri... |
OMIM:609053 |
| Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, O... |
ORPHA:370959 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pericarditis, Pallor |
ORPHA:163596 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... |
ORPHA:3099 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Increased circulating farnesol concentration, Decr... |
OMIM:618156 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... |
ORPHA:3342 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Meningoce... |
OMIM:130720 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Short stature, Situs... |
ORPHA:1908 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Increased nuchal... |
ORPHA:352665 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... |
OMIM:610168 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Short stature, Sensorineural hearing impairment, Ab... |
ORPHA:261330 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical hernia, Abnormal venous ... |
ORPHA:1900 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
| Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Optic nerve hypoplasia, Pulmoni... |
OMIM:615280 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale |
OMIM:618652 |
| Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Aortic ane... |
OMIM:203500 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Macs Syndrome |
|
Umbilical hernia, Dilation of Virchow-Robin spaces, Aortic aneurysm |
OMIM:613075 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Hydr... |
ORPHA:261337 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Umbilical hernia, Vascular tortuosity |
OMIM:219100 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... |
OMIM:266500 |
| Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse, Aortic aneurysm |
OMIM:166200 |
| Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
| Alg3-Cdg |
|
Neural tube defect, Abnormal pinna morphology, Hearing impairment, Cardiomyopathy |
ORPHA:79321 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Low posterior hairline, Abnormal aortic valve morphology, Webbed neck, Umbilical hernia, Spina bi... |
ORPHA:2990 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Mixed hearing impairment, Short stature, Conductive hearing impairme... |
OMIM:620186 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction |
OMIM:253250 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Pallor |
ORPHA:536516 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, ... |
OMIM:601808 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615879 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... |
ORPHA:391428 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Elevated circulating creatine ki... |
OMIM:301056 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:401777 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... |
OMIM:235200 |
| Dravet Syndrome |
|
Limited neck range of motion, Pallor |
ORPHA:33069 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormality of the neck, Abnor... |
ORPHA:1926 |
| Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
| Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
| Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Tetralogy of Fallot, Optic nerve hypoplasia |
OMIM:222765 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment |
ORPHA:466950 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Short neck, Low posterior hairline, Mitral ... |
OMIM:618000 |
| Bresek Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:85284 |
| Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the macula |
OMIM:256550 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:3386 |
| Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:94080 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Posteriorly r... |
ORPHA:508488 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... |
OMIM:617660 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... |
ORPHA:861 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Cardiomegaly |
ORPHA:99931 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Mitral valve prolapse, Aortic aneurysm |
OMIM:182212 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
| Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... |
ORPHA:60030 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
| Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Dilatation of the cereb... |
ORPHA:284984 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
| Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Aortic root aneurysm, Atrial septal defect |
ORPHA:404443 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia |
OMIM:618381 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm |
OMIM:617253 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Short neck, Pallor, Webbed neck, At... |
OMIM:105650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... |
OMIM:208050 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Pallor |
ORPHA:3226 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm |
ORPHA:109 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, ... |
ORPHA:536545 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Aortic root aneurysm, Mitral valve prolapse |
OMIM:130000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal defect, Aortic val... |
ORPHA:96121 |
| Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:171881 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Larsen Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Thoracic aortic aneurysm, Transient ischemic attack, Cardiomegaly, Abnormal internal carotid arte... |
ORPHA:365 |
| Marfan Syndrome |
|
Mitral valve calcification, Descending aortic dissection, Meningocele, Dilatation of an abdominal... |
ORPHA:558 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Short neck, Postnatal growth retardation, Sensorineural hearing impairm... |
OMIM:113620 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Nonketotic hyperglycinemia |
OMIM:220120 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor, Hearing impairment |
OMIM:617675 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... |
ORPHA:363618 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Elevated circulating creatine kinase concentration, Right ventricular... |
ORPHA:268 |
| White-Sutton Syndrome |
|
Atrial septal defect, Rod-cone dystrophy, Patent foramen ovale, Optic nerve hypoplasia |
OMIM:616364 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231226 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:536467 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:261250 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Optic nerve hypoplasia, Mitral valve prolapse |
ORPHA:93932 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral va... |
OMIM:121050 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
ORPHA:465508 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... |
ORPHA:363958 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... |
OMIM:236670 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Natal tooth, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
| Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu... |
OMIM:612289 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopa... |
OMIM:105210 |
| Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Calcification of the aorta, Aortic aneurysm, Hypertrophic cardiomyopathy, Moyamoya ... |
ORPHA:51 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse, Ventricular septal defect, Short neck |
ORPHA:444072 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, Delayed puberty |
ORPHA:231214 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... |
ORPHA:508498 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Hydrocephalus, Growth delay, Pall... |
ORPHA:667 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
| Esophageal Atresia |
|
Ventricular septal defect, Growth delay, Coloboma, Pallor, Tetralogy of Fallot, Hearing impairment |
ORPHA:1199 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,... |
OMIM:301043 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... |
ORPHA:101085 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Short neck, Abnormal heart morphology, Growth delay, Mi... |
ORPHA:124 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve pro... |
ORPHA:666 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Dilatation of the ventricular cavity, Coarctation of aorta, Peripheral pulmo... |
ORPHA:90348 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... |
ORPHA:42775 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegal... |
ORPHA:79330 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
| 19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Sensorineural heari... |
OMIM:164210 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:276621 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Hearing impairment, Abnormal heart morphology |
OMIM:600901 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:29072 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Short stature, Intrauterine growth retardation, Hearing... |
OMIM:227645 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... |
OMIM:268800 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology,... |
OMIM:227646 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hypoplasti... |
OMIM:617506 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Ventricular septal defect, Pallor, Cardiomegaly |
ORPHA:137675 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Hearing impairment, Abnormal heart morphology |
OMIM:227650 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Cardiomyopathy, Aortic... |
OMIM:135500 |
| Restrictive Dermopathy |
|
Natal tooth, Dextrocardia, Large placenta, Patent ductus arteriosus, Webbed neck, Ascending tubul... |
ORPHA:1662 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Uplifted earlobe, Sensorineural hearing impairment, Cupped ear,... |
OMIM:613406 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Degcags Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Hearing impairment, Patent ductus arteriosus... |
OMIM:619488 |
| Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
| Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Waldenström Macroglobulinemia |
|
Purpura, Pallor, Hearing impairment |
ORPHA:33226 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Hepatomegaly, Cardi... |
ORPHA:14 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
| X Small Rings |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root... |
ORPHA:96201 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Hypoplastic ... |
OMIM:617403 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Marfan Syndrome |
|
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... |
OMIM:154700 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Cardiac rhabdomyoma, Aortic aneurysm |
ORPHA:805 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctati... |
ORPHA:2745 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Ventricular septal defect, Bicuspid aortic valve, Dilatation of the cerebral artery,... |
OMIM:619475 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly |
OMIM:603903 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Pallor |
ORPHA:2131 |
| Adenohypophysitis |
|
Sensorineural hearing impairment, Pallor |
ORPHA:95512 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Optic nerve hypoplasia, Optic disc coloboma, Pulmonic stenosis, ... |
ORPHA:536471 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Erythema, Short stature, Pallor |
OMIM:308300 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Hypoasparaginemia |
OMIM:615574 |
| Panhypophysitis |
|
Sensorineural hearing impairment, Pallor |
ORPHA:95513 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Sheehan Syndrome |
|
Sensorineural hearing impairment, Dry skin, Pallor |
ORPHA:91355 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... |
ORPHA:991 |
| Marshall-Smith Syndrome |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Dysplastic aortic valve |
OMIM:602535 |
| Hydranencephaly |
|
Dilatation of the ventricular cavity, Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
| Stromme Syndrome |
|
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short neck, Cardiomegaly, Low posterior hairline, Mitral valve prolapse, A... |
OMIM:245600 |
| Blau Syndrome |
|
Pericarditis, Large vessel vasculitis, Aortic aneurysm |
ORPHA:90340 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Optic nerve hypoplasia |
OMIM:609069 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... |
OMIM:612474 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Delayed puberty |
ORPHA:91347 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood... |
ORPHA:468631 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Abnormal aortic ... |
ORPHA:581 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
| Semilobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Sensorineural hearing impairment, Hydrocephalus, Abnormal heart morphology, Growth... |
ORPHA:93924 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
| Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Chorioretin... |
ORPHA:141099 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Pallor |
ORPHA:892 |
| Fucosidosis |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Cardiomegaly |
OMIM:230000 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Optic nerve hypoplasia |
ORPHA:45358 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Atrial... |
ORPHA:280633 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Coloboma, Hydrocephalus, Pallor |
OMIM:253280 |
| Sotos Syndrome |
|
Ventricular septal defect, No permanent dentition, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:821 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:3301 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Short neck, Abnormal heart morphology, Neur... |
ORPHA:798 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Umbilical hernia, Arterial dissection |
ORPHA:285 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Optic nerve hypoplasia |
ORPHA:226307 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Retinal atrophy, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Thickened nuchal skin fold, Atrial septal defect, Bicuspid aortic valve, Sh... |
ORPHA:99413 |
| Turner Syndrome |
|
Aortic arch aneurysm, Thickened nuchal skin fold, Atrial septal defect, Bicuspid aortic valve, Sh... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Aortic arch aneurysm, Thickened nuchal skin fold, Atrial septal defect, Bicuspid aortic valve, Sh... |
ORPHA:99228 |
| Monosomy X |
|
Aortic arch aneurysm, Thickened nuchal skin fold, Atrial septal defect, Bicuspid aortic valve, Sh... |
ORPHA:99226 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormality of the ne... |
ORPHA:904 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Abnormal cardiac septu... |
ORPHA:138 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon |
ORPHA:59315 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Vascular calcification, Premat... |
ORPHA:90324 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Au-Kline Syndrome |
|
Thickened nuchal skin fold, Aortic root aneurysm, Lipomyelomeningocele |
OMIM:616580 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
| 1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus, Dilated cardiomy... |
ORPHA:1606 |
| Baller-Gerold Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology |
OMIM:218600 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Atrial septal defect, Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology |
ORPHA:500150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia, Ventricular septal defect, Hypocalcemia |
OMIM:620330 |
| Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Aortic root aneurysm, Dilatation of the cerebral artery, Arteriovenous fis... |
ORPHA:287 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... |
ORPHA:444077 |
| Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... |
ORPHA:116 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Atrial septal ... |
ORPHA:3472 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... |
ORPHA:51608 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Patent foramen ovale |
OMIM:619841 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
