Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalm... |
OMIM:120200 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Mucoid extracellular matrix accumulation, Descend... |
ORPHA:229 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm, Frontal encephalocele |
ORPHA:261102 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Right atrial enlargement, Aortic aneurysm, Myocardial sarcomeric disa... |
OMIM:612422 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Webbed neck, Branchial anomaly, Sensorineural hearing impairment, ... |
ORPHA:1131 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm, Abnormal heart valve morphology |
ORPHA:98892 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Ventricular septal defect, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Short stature, Abnormality of the middle ear ossicles, Mixed he... |
OMIM:609166 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Abnormality of th... |
ORPHA:50815 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Common carotid artery aneurysm, Vascular dilatati... |
OMIM:613834 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Takayasu Arteritis |
|
Ascending tubular aorta aneurysm, Vascular dilatation, Abnormal aortic valve morphology, Arterial... |
ORPHA:3287 |
Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... |
OMIM:615113 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d... |
OMIM:619825 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Abdominal aortic aneurysm, Ischemic stroke, Trans... |
ORPHA:91387 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy, Vertebral artery aneurysm, Carotid artery dis... |
OMIM:619656 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... |
ORPHA:3092 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Abnorm... |
ORPHA:231160 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Pallor |
OMIM:612989 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis, Aplasia/Hypoplasia of the optic nerve, Op... |
ORPHA:137634 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Branchial anomaly, Coloboma, Ventricular septal defect, Bicuspid a... |
ORPHA:453499 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Short stature, Atrial septal defect,... |
ORPHA:49827 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Growth delay, Pallor |
OMIM:613561 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy |
ORPHA:85447 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Hearing impairment, Pallor |
OMIM:500007 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor... |
OMIM:617168 |
Rin2 Syndrome |
|
Aortic aneurysm, Umbilical hernia |
ORPHA:217335 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Severe postnatal growth retardation, Protruding... |
ORPHA:435938 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Fragile X Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm |
ORPHA:908 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Arterial fibromuscular dysplasia, Stroke |
OMIM:135580 |
Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex... |
ORPHA:107 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multiple muscular ventricular septal... |
OMIM:620070 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... |
ORPHA:52429 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Macrotia, Ven... |
ORPHA:2162 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse, Aortic aneurysm |
ORPHA:115 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Conductive hearing impairment, Ventricular septal defect, Short stature, At... |
OMIM:609053 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Dysplastic aortic valve, Left ventricular hypertrophy, Thorac... |
ORPHA:3093 |
Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
Fryns Microphthalmia Syndrome |
|
Macrotia, Neural tube defect |
OMIM:600776 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... |
ORPHA:860 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Microphthalmia, Hepatomegaly, Abnormality of retinal pigmentation |
ORPHA:858 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus, Pallor |
ORPHA:163596 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Rheumatic Fever |
|
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pallor, Pericar... |
ORPHA:3099 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve,... |
OMIM:614816 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia |
ORPHA:250972 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... |
ORPHA:402075 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Ventricular septal defect, Bicuspid aortic valve, Aortic a... |
OMIM:130720 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Aortic aneurysm, D... |
ORPHA:3342 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:614702 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Short stature, Anenceph... |
ORPHA:1908 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, Coloboma, Ven... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, Coloboma, Ven... |
ORPHA:352665 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia |
ORPHA:65288 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Loeys-Dietz Syndrome 2 |
|
Patent ductus arteriosus, Aortic root aneurysm, Abdominal aortic aneurysm, Ascending tubular aort... |
OMIM:610168 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Cardiofaciocutaneous Syndrome 4 |
|
Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy, Optic nerve ... |
OMIM:615280 |
X-Linked Intellectual Disability, Najm Type |
|
Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia |
ORPHA:163937 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve prolapse, ... |
OMIM:175050 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Left ventricular hypert... |
ORPHA:85451 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Mitral valve prolapse, Aortic aneurysm, Arterial dissection, Aortic dissecti... |
ORPHA:1900 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Truncus arteriosus, Ventricular septal defect, Short stature, A... |
ORPHA:261330 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Microphthalmia, Cardiomegaly |
OMIM:618652 |
Macs Syndrome |
|
Aortic aneurysm, Umbilical hernia, Dilation of Virchow-Robin spaces |
OMIM:613075 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Alkaptonuria |
|
Aortic valve calcification, Aortic aneurysm, Mitral valve calcification, Coronary artery calcific... |
OMIM:203500 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Distal 22Q11.2 Microduplication Syndrome |
|
Abnormal antihelix morphology, Patent ductus arteriosus, Webbed neck, Ventricular septal defect, ... |
ORPHA:261337 |
Optic Atrophy 11 |
|
Optic atrophy, Optic nerve hypoplasia, Facial diplegia, Decreased sensory nerve conduction veloci... |
OMIM:617302 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Cardiomyopathy |
ORPHA:370959 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse, Aortic aneurysm |
OMIM:166200 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic a... |
ORPHA:1600 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Situs inversus totalis, Persistent left superior ven... |
OMIM:609008 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Skin ulcer, Pallor |
ORPHA:848 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity, Umbilical hernia |
OMIM:219100 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pigmentary retinopathy |
OMIM:253250 |
Alg3-Cdg |
|
Cardiomyopathy, Hearing impairment, Abnormal pinna morphology, Neural tube defect |
ORPHA:79321 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Abnormal aortic valve morphology, Aortic aneurysm, Spina bifida occulta, Low posteri... |
ORPHA:2990 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... |
OMIM:270100 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia |
OMIM:615879 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Pallor |
ORPHA:536516 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia |
ORPHA:228384 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia |
ORPHA:401777 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria... |
ORPHA:99050 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm... |
OMIM:613795 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
Cerebral Visual Impairment |
|
Optic atrophy, Optic nerve hypoplasia, Optic disc pallor, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the neck, Ventricular septal defect... |
ORPHA:1926 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short neck, Hypoplastic left heart |
ORPHA:2001 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... |
ORPHA:397 |
Bresek Syndrome |
|
Aganglionic megacolon, Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Mitral valve p... |
OMIM:300989 |
Dravet Syndrome |
|
Limited neck range of motion, Pallor |
ORPHA:33069 |
Refsum Disease, Classic |
|
Cardiomegaly, Rod-cone dystrophy, Retinal degeneration, Cardiomyopathy |
OMIM:266500 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula, Cardiomyopathy |
OMIM:256550 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia |
OMIM:618156 |
Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia |
OMIM:618736 |
Loeys-Dietz Syndrome 1 |
|
Patent ductus arteriosus, Aortic root aneurysm, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
American Trypanosomiasis |
|
Cardiomyopathy, Myocarditis, Pallor |
ORPHA:3386 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Hearing impairment, Posteriorly rotated ears, Branchial anomaly, Prominent antihelix |
ORPHA:466950 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Mitral valve prolapse, Prominent supe... |
OMIM:618000 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor |
ORPHA:99931 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Pallor |
ORPHA:94080 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Encephalocele, Narrow internal auditory ... |
ORPHA:861 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,... |
OMIM:617660 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Mitral valve prolapse, Aortic aneurysm, Umbilical hernia |
OMIM:182212 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Ventricular septal defect, Optic nerve hypoplasia, Hepatomegaly, P... |
OMIM:301056 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Ventricular septal defect, Atrial septal defect |
OMIM:309520 |
Loeys-Dietz Syndrome |
|
Patent ductus arteriosus, Vascular dilatation, Aortic aneurysm, Arterial dissection, Arterial tor... |
ORPHA:60030 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Tetralogy of Fallot, Optic nerve hypoplasia |
OMIM:222765 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Infancy onset short-trunk short stature,... |
ORPHA:508488 |
Aneurysm-Osteoarthritis Syndrome |
|
Patent ductus arteriosus, Abdominal aortic aneurysm, Vascular dilatation, Left ventricular hypert... |
ORPHA:284984 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Growth delay, Pallor |
OMIM:600462 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia |
OMIM:618828 |
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 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm, Umbilical hernia, Atrial septal defect |
ORPHA:404443 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia |
OMIM:300953 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Seckel Syndrome 10 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy |
OMIM:617253 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage |
ORPHA:109 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect |
OMIM:301039 |
Primary Myelofibrosis |
|
Ecchymosis, Purpura, Petechiae, Pallor |
ORPHA:824 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Pallor |
ORPHA:3226 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Short... |
ORPHA:96121 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Ischemic stroke, Carotid artery... |
OMIM:208050 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Bicuspid aortic valve, Aortic aneurysm, ... |
ORPHA:536545 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia |
ORPHA:572013 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Mitral valve prolapse, Umbilical hernia |
OMIM:130000 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Skin ulcer, Growth delay, Pallor |
ORPHA:822 |
Cap Myopathy |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:171881 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
Branchiooculofacial Syndrome |
|
Overfolded helix, Fusion of middle ear ossicles, Hypoplastic superior helix, Conductive hearing i... |
OMIM:113620 |
Larsen Syndrome |
|
Spina bifida occulta, Aortic aneurysm, Ventricular septal defect, Atrial septal defect |
OMIM:150250 |
Marfan Syndrome |
|
Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, M... |
ORPHA:558 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Abnormal internal carotid artery morphology, Transient ischemic attack, Left ventricular hypertro... |
ORPHA:365 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
White-Sutton Syndrome |
|
Patent foramen ovale, Rod-cone dystrophy, Atrial septal defect, Optic nerve hypoplasia |
OMIM:616364 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia |
OMIM:615033 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:261250 |
Aicardi-Goutières Syndrome |
|
Moyamoya phenomenon, Arrhinencephaly, Calcification of the aorta, Aortic aneurysm, Hypertrophic c... |
ORPHA:51 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Hearing impairment, Short stature, Pallor |
OMIM:617675 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Dominant Beta-Thalassemia |
|
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay |
ORPHA:231226 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
Fg Syndrome Type 1 |
|
Mitral valve prolapse, Atrial septal defect, Optic nerve hypoplasia |
ORPHA:93932 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve prolapse, Torticollis, Thora... |
ORPHA:536467 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:121050 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Abnormality of the ... |
ORPHA:363618 |
Diamond-Blackfan Anemia 1 |
|
Webbed neck, Ventricular septal defect, Short stature, Atrial septal defect, Pallor, Short neck, ... |
OMIM:105650 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia |
ORPHA:79345 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy |
OMIM:619259 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:3157 |
Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... |
OMIM:301043 |
Aniridia 1 |
|
Hypoplasia of the iris, Retinal vascular tortuosity, Optic nerve hypoplasia, Hypoplasia of the fo... |
OMIM:106210 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve prolapse, Abnormal cardiac v... |
ORPHA:284979 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Decreased number of lar... |
ORPHA:101085 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia |
OMIM:220120 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Aortic aneurysm, Atrial septal de... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Aortic aneurysm, Atrial septal de... |
ORPHA:363958 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Limitation of neck motion,... |
ORPHA:268810 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Phace Syndrome |
|
Retinal vascular malformation, Abnormal cardiac septum morphology, Lens coloboma, Optic nerve hyp... |
ORPHA:42775 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia |
OMIM:612513 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm, Left ventricular hypertrophy, A... |
OMIM:612289 |
Cerebellar-Facial-Dental Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Short neck, Ventricular septal defect |
ORPHA:444072 |
Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:98375 |
Beta-Thalassemia Major |
|
Skin ulcer, Dilated cardiomyopathy, Pallor, Delayed puberty, Growth delay |
ORPHA:231214 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hydrocephalus, Pallor, Abnormal pulmonary valve morphology, Growth del... |
ORPHA:667 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Left ventricular hypertrophy, Atrial septal d... |
ORPHA:79330 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:261349 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Aortic aneurysm, Redundant neck skin, Coarctation of aorta,... |
ORPHA:90348 |
Esophageal Atresia |
|
Ventricular septal defect, Coloboma, Pallor, Growth delay, Tetralogy of Fallot, Hearing impairment |
ORPHA:1199 |
Osteogenesis Imperfecta |
|
Aortic root aneurysm, Cerebral hemorrhage, Delayed eruption of teeth, Mitral valve prolapse, Aort... |
ORPHA:666 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
ORPHA:357001 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia |
OMIM:300749 |
Blackfan-Diamond Anemia |
|
Webbed neck, Ventricular septal defect, Short stature, Microtia, Atrial septal defect, Pallor, Sh... |
ORPHA:124 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Natal tooth, Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia |
ORPHA:300570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Microphthalmi... |
OMIM:614643 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Branch... |
OMIM:164210 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Cherry red spot of the m... |
OMIM:268800 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Abnormal heart morphology, Hearing impairment, Short stature |
OMIM:600901 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou... |
ORPHA:2331 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Pallor |
ORPHA:276621 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Short stature, Intrauterine growth retardation, Anemic pallor, Hearing... |
OMIM:227645 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia |
OMIM:617864 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:617602 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Short stature, Hydrocephalus, Abnormal heart morphology, Anemic pallor,... |
OMIM:227646 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hydrocephalus, Ventricular septal defect, Pallor |
ORPHA:137675 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormal heart morphology, Hearing impairment, Short stature |
OMIM:227650 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Conductive hearing impairment, Aniridia, Pallor |
ORPHA:29072 |
Zimmermann-Laband Syndrome 1 |
|
Patent ductus arteriosus, Aortic root aneurysm, Aortic arch aneurysm, Delayed eruption of teeth, ... |
OMIM:135500 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia, Pu... |
OMIM:617506 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, ... |
ORPHA:230851 |
Sickle Cell Disease |
|
Cardiomegaly, Retinopathy, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pallor |
ORPHA:231222 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Degcags Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Macrotia, Sensorineural hearing impairment, Low-s... |
OMIM:619488 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Microphthalmia, Retina... |
OMIM:236670 |
Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
Restrictive Dermopathy |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Webbed neck, Natal tooth, Short umbil... |
ORPHA:1662 |
Witteveen-Kolk Syndrome |
|
Macrotia, Sensorineural hearing impairment, Thickened helices, Short stature, Iris coloboma, Grow... |
OMIM:613406 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Pericardial effusion, Mitral valve pr... |
ORPHA:536532 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur... |
OMIM:619472 |
Vascular Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Vascular dilatation, Arteriovenous f... |
ORPHA:286 |
Waldenström Macroglobulinemia |
|
Purpura, Hearing impairment, Pallor |
ORPHA:33226 |
X Small Rings |
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Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Short ne... |
ORPHA:96201 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Mitral valve prola... |
OMIM:154700 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Optic nerve hypoplasia, Aortic valve stenosis, Optic dis... |
ORPHA:536471 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, ... |
ORPHA:2745 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Hypertrophic cardiomyopathy, Ascending tubular aorta aneurysm, Atrial se... |
OMIM:617403 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Hydranencephaly |
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Dilatation of the ventricular cavity, Chorioretinal atrophy, Optic nerve hypoplasia |
ORPHA:2177 |
Autosomal Dominant Polycystic Kidney Disease |
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Aortic root aneurysm, Mitral valve prolapse, Abnormal systemic arterial morphology, Dilatation of... |
ORPHA:730 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Pulmonary lymphangiomyomatosis, Cardiac rhabdomyoma |
ORPHA:805 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:465508 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ventricular septal defect, Bicuspid aortic valve, Torticollis, Aortic aneurysm, Dilatation of the... |
OMIM:619475 |
Adenohypophysitis |
|
Sensorineural hearing impairment, Pallor |
ORPHA:95512 |
Incontinentia Pigmenti |
|
Pallor, Short stature, Erythema, Delayed eruption of teeth |
OMIM:308300 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Alternating Hemiplegia Of Childhood |
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Cardiomyopathy, Pallor |
ORPHA:2131 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy |
ORPHA:268 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect, Optic nerve hypoplasia |
OMIM:609069 |
Marshall-Smith Syndrome |
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Dysplastic aortic valve, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia |
OMIM:602535 |
Panhypophysitis |
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Sensorineural hearing impairment, Pallor |
ORPHA:95513 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Sheehan Syndrome |
|
Sensorineural hearing impairment, Dry skin, Pallor |
ORPHA:91355 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Encephalocele, Spina bifida, Abnormality of the pulmonar... |
ORPHA:991 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Webbed neck, Aortopulmonary window, Ventricular septal defect, Pulmonary ar... |
OMIM:620025 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Aortic root aneurysm, Patent foramen ovale, Webbed neck, Bicuspid aortic valve, Mitral valve prol... |
OMIM:245600 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia |
OMIM:620029 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... |
OMIM:612474 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:610443 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:608836 |
Idiopathic Hypereosinophilic Syndrome |
|
Myocardial eosinophilic infiltration, Dilated cardiomyopathy, Pallor |
ORPHA:3260 |
Blau Syndrome |
|
Pericarditis, Large vessel vasculitis, Aortic aneurysm |
ORPHA:90340 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Bilateral microphthalmos, Optic disc pallor, Attenuation of retinal blood vessels, Optic nerve hy... |
ORPHA:468631 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect, Ascending aortic dissectio... |
OMIM:615582 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Abnormal mitral valve morphology, Optic atrophy, Reti... |
ORPHA:581 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty, Pallor |
ORPHA:91347 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Congenital Disorder Of Glycosylation, Type It |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... |
ORPHA:99125 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation... |
OMIM:614437 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia, Chorioretinal co... |
ORPHA:141099 |
Semilobar Holoprosencephaly |
|
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormal hear... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormal hear... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormal hear... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Sensorineural hearing impairment, Short stature, Neural tube defect, Hydrocephalus, Abnormal hear... |
ORPHA:93924 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Fucosidosis |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Von Hippel-Lindau Disease |
|
Cardiomyopathy, Myocarditis, Pallor |
ORPHA:892 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Optic atrophy, Septo-optic dysplasia |
ORPHA:3301 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Coloboma, Pallor |
OMIM:253280 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Short... |
ORPHA:280633 |
Sotos Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, No permanent dentition, Aortic aneurysm, Atr... |
ORPHA:821 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Atrial septal defect |
OMIM:618891 |
Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Low-set ears, Delayed eruption of teeth, Neural tube ... |
ORPHA:798 |
Hypermobile Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Arterial dissection, Umbilical hernia, Venous insufficiency |
ORPHA:285 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology |
ORPHA:97297 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Growth delay |
ORPHA:329971 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Webbed neck, Broad neck, Bicuspid aortic valve, Arterial dissection, Atrial... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Webbed neck, Broad neck, Bicuspid aortic valve, Arterial dissection, Atrial... |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Webbed neck, Broad neck, Bicuspid aortic valve, Arterial dissection, Atrial... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Webbed neck, Broad neck, Bicuspid aortic valve, Arterial dissection, Atrial... |
ORPHA:99226 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Abetalipoproteinemia |
|
Rod-cone dystrophy, Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Hepatome... |
ORPHA:14 |
Williams Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Abn... |
ORPHA:904 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic atrophy, Optic nerve hypoplasia |
OMIM:619321 |
Charge Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed erupt... |
ORPHA:138 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:457284 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Baller-Gerold Syndrome |
|
Abnormal heart morphology, Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural hemorrhage, Vascular ca... |
ORPHA:90324 |
Au-Kline Syndrome |
|
Aortic root aneurysm, Lipomyelomeningocele, Thickened nuchal skin fold |
OMIM:616580 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal heart morphology, Atrial septal defect, Optic nerve hypoplasia |
ORPHA:500150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
1P36 Deletion Syndrome |
|
Patent ductus arteriosus, Abnormality of the neck, Aortic arch aneurysm, Abnormal cardiac septum ... |
ORPHA:1606 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia |
ORPHA:226307 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse, Tricuspid valve prolapse, Arterial dissection, Arter... |
ORPHA:287 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, ... |
ORPHA:444077 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia |
ORPHA:495875 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Bilateral microphthalmos, Microphthalmia, Cardio... |
ORPHA:3472 |
Beckwith-Wiedemann Syndrome |
|
Choroideremia, Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiom... |
ORPHA:116 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Patent ductus arteriosus, Patent foramen ovale, Aortic root aneurysm, Ventricular septal defect, ... |
OMIM:607872 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia |
ORPHA:95494 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... |
OMIM:619991 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Retinal hemorrhage, Abnormal retinal artery morphology, Pericardial effu... |
ORPHA:51608 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:256040 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Patent foramen ovale, Septo-optic dysplasia |
OMIM:619841 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |