Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:607432 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI |
OMIM:614173 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia |
OMIM:618572 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Gray matter heterotopia, Hypoplasia of the brainstem, Dysgyria, Cerebellar hypopla... |
ORPHA:352682 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal lung lobation, Abnormal aortic morphology, Webbed... |
ORPHA:2516 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... |
OMIM:618677 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero... |
OMIM:611603 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis |
OMIM:617577 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Deafness, Autosomal Dominant 9 |
|
Abnormality of the vestibulocochlear nerve |
OMIM:601369 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Abnormal fifth cranial nerve morphology, Abnormal heart morphology |
ORPHA:91412 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Immunodeficiency 18 |
|
Defective T cell proliferation |
OMIM:615615 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... |
ORPHA:1166 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... |
OMIM:601186 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Subcortical band heterotopia, Optic atrophy, Gray matter heterotopi... |
OMIM:615191 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth, Aortic v... |
OMIM:615415 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormality of the neck, Abnor... |
ORPHA:1926 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology, Abnormality ... |
ORPHA:1131 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Optic... |
OMIM:616171 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Recurrent respiratory infections, Torticollis, Ventricular septal def... |
OMIM:609029 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Motor axonal neuropathy, Microcephaly |
OMIM:618276 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... |
ORPHA:268882 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o... |
ORPHA:171680 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Abnormality of neuronal migration, Hypoplasia of the brainstem, Cerebellar hypoplas... |
OMIM:608840 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Gray matter heterotopia, Facial diplegia, Pachygyria, Cerebellar cyst |
ORPHA:370980 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve |
ORPHA:90117 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, M... |
OMIM:614833 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Growth delay, Agenesis of corpus callosum |
OMIM:274270 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... |
ORPHA:300573 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cere... |
ORPHA:65 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... |
ORPHA:1528 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o... |
OMIM:618273 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Redundant neck skin, Ventricular sep... |
ORPHA:96170 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:615181 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
ORPHA:261330 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morphology, Congenit... |
ORPHA:1666 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... |
OMIM:178600 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Superficial Siderosis |
|
Abnormality of the brachial nerve plexus, Dysgyria, Abnormality of the vestibulocochlear nerve, A... |
ORPHA:247245 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Agenesis ... |
OMIM:218670 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Neonatal death, Atrioventricula... |
OMIM:314390 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargement, Myofiber di... |
OMIM:619424 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas... |
OMIM:617622 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... |
ORPHA:370959 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Short stature, Microcephaly, Hypoplasia of the corpus... |
OMIM:300887 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... |
ORPHA:251071 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Spina bifida occulta, Transpo... |
OMIM:201000 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria |
ORPHA:99802 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse... |
OMIM:616212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... |
OMIM:253800 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... |
OMIM:619737 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... |
ORPHA:363618 |
Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... |
OMIM:617877 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia, Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... |
ORPHA:991 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopi... |
OMIM:313850 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... |
OMIM:600638 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:945 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana... |
ORPHA:508498 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct... |
OMIM:618164 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum, Short stature, Optic nerve hypoplasia |
OMIM:182230 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr... |
OMIM:618316 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Hype... |
ORPHA:500 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of... |
OMIM:619955 |
Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... |
ORPHA:508488 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... |
OMIM:265380 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Retinal... |
ORPHA:567 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Even-Plus Syndrome |
|
Severe short stature, Dysplastic corpus callosum, Patent foramen ovale, Atrial septal defect, Age... |
OMIM:616854 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... |
ORPHA:314588 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... |
ORPHA:353281 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
ORPHA:1780 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Respiratory tract infection, Patent foramen ovale, Paten... |
OMIM:180849 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Gray matter h... |
OMIM:614643 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, Webbed neck |
ORPHA:33001 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... |
ORPHA:261311 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pulm... |
ORPHA:2257 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Short neck, Abnormal aortic arch morphology, Abnormal aortic morpholo... |
ORPHA:2059 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration |
ORPHA:2518 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Digeorge Syndrome |
|
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Interrupte... |
OMIM:188400 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... |
OMIM:612474 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmonary artery hyp... |
OMIM:300963 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Dysplastic corpus call... |
OMIM:618810 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hypoplasti... |
OMIM:617506 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Abnormal hear... |
ORPHA:42775 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... |
OMIM:617914 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Abnorma... |
ORPHA:167635 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Cerebral arteriovenous malformation, Facial capillary hemangioma, Abnormality of the m... |
ORPHA:137667 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Agenesis of corpus callosum, Holoprosencephaly, Abnormal cranial nerve mo... |
ORPHA:990 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Ventricular septal defect, Patent ... |
ORPHA:2962 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
ORPHA:2255 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of neuronal migration |
ORPHA:44 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... |
ORPHA:353277 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Familial Isolated Restrictive Cardiomyopathy |
|
Left atrial enlargement, Postnatal growth retardation, Interstitial cardiac fibrosis, Hypertrophi... |
ORPHA:75249 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Optic disc pallor |
OMIM:617201 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration |
ORPHA:101030 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Charge Syndrome |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... |
OMIM:214800 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Basal ganglia ca... |
OMIM:617281 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... |
OMIM:164210 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
OMIM:300957 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... |
OMIM:619534 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of ... |
OMIM:619179 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... |
OMIM:280000 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Postnatal growth retardation, Dysplastic corpus callosum, Secondary microc... |
ORPHA:357058 |
Vici Syndrome |
|
Hypoplasia of the pons, Gray matter heterotopia, Optic atrophy, Cerebellar hypoplasia |
ORPHA:1493 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement |
OMIM:612422 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Abnormality of neuronal migration, Dan... |
ORPHA:2481 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... |
OMIM:600376 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... |
ORPHA:565612 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Dandy-Walker malformation |
OMIM:164180 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aganglionic megacolon, Abnormality of neur... |
ORPHA:2318 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... |
ORPHA:163979 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Interrupted aor... |
ORPHA:17 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Arteriovenous malformation, Pulmonary artery ... |
ORPHA:974 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Short stature, Focal white matter lesions |
ORPHA:557003 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Doub... |
OMIM:301056 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ... |
ORPHA:477817 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Transposition of t... |
OMIM:256520 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Kinke... |
OMIM:617822 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Aganglionic megacolon, Abnormality of neuronal migr... |
ORPHA:475 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... |
OMIM:619103 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Tetralogy of Fallot, Pachygyria, Polymicro... |
ORPHA:2328 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... |
ORPHA:2092 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Right atrial enlargement, Bicuspid aortic valve, Hypoplasia of the corpus callosum, Mitral valve ... |
ORPHA:555877 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Full Schwannomatosis |
|
Schwannoma, Peripheral schwannoma, Bilateral vestibular schwannoma |
ORPHA:93921 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature |
ORPHA:284227 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Abnormal cerebral vascular morphology, Aortic valve calcification, P... |
ORPHA:79474 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Peripheral axonal neuropathy, Ventricular septal defect, Mitral atres... |
OMIM:619503 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Short stature, Secondary microcephaly |
OMIM:619423 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preduct... |
OMIM:146510 |
Peters Plus Syndrome |
|
Short neck, Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morpholog... |
ORPHA:709 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Pulmonary hypopla... |
ORPHA:1692 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Cerebrofacioarticular Syndrome |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Abnormal heart morphology, Pulmonic sten... |
ORPHA:314679 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Perlman Syndrome |
|
Interrupted aortic arch |
OMIM:267000 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement |
OMIM:616028 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2671 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration, Dandy-Wal... |
ORPHA:7 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... |
OMIM:187300 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... |
OMIM:300166 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... |
OMIM:602531 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Ventricular septal defect, Short neck, Patent ductus arteriosus, Webbed ... |
OMIM:616894 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Muscular ventricular septal defect, Abnormal heart morphology, Perime... |
ORPHA:363444 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Gray matter heterotopia |
OMIM:617563 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Chiari malformation |
OMIM:207950 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:35107 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Restrictive Dermopathy |
|
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... |
ORPHA:1662 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary ... |
OMIM:614437 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Optic atrophy, Chiari type I malformation, Cerebellar hypoplasia, Da... |
OMIM:618476 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... |
ORPHA:98889 |
Nestor-Guillermo Progeria Syndrome |
|
Short stature, Left atrial enlargement, Growth delay, Cavum septum pellucidum, Right atrial enlar... |
OMIM:614008 |
Parkes Weber Syndrome |
|
Hemangiomatosis, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, High-output conges... |
ORPHA:90307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Optic nerve dysplasia, Gray matter heterotopia, Hypoplasia of the ... |
OMIM:615287 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Ventricular septal defect, Short neck, Large placenta, Pulmonary artery sten... |
ORPHA:96334 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Right atrial enlargement, Left atrial enlargement, Cardiomegaly |
ORPHA:57777 |
Marfan Syndrome |
|
Mitral valve calcification, Spontaneous pneumothorax, Descending aortic dissection, Meningocele, ... |
ORPHA:558 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Total anomalo... |
OMIM:312870 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Zttk Syndrome |
|
Short stature, Ventricular septal defect, Dysplastic corpus callosum, Optic atrophy, Growth delay... |
OMIM:617140 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the cerebellum, Optic disc coloboma, Abnormal... |
ORPHA:1454 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Pachy... |
ORPHA:468631 |
Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration |
ORPHA:192 |
Man1B1-Cdg |
|
Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Juvenile gastrointestinal polyposi... |
ORPHA:2929 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:157 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... |
OMIM:618733 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Muscular ventricular septal defect, Hypoplasia of the corpus callosum... |
OMIM:618569 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Mitral valve... |
ORPHA:371428 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic... |
OMIM:135500 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Coronary artery stenosis, Myocardial infarction |
OMIM:615812 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... |
OMIM:235730 |
Yuan-Harel-Lupski Syndrome |
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Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... |
OMIM:616652 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Optic atrophy, Periventricular heterotopia |
OMIM:619833 |
Hyperlysinemia |
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Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Abnormality of neuronal migration, Cerebellar vermis atrophy |
ORPHA:163681 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Hypoplasia of the brainstem, Dandy-Walker malformation, Delayed peripher... |
OMIM:605039 |
Schwannomatosis, Vestibular |
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Unilateral vestibular schwannoma, Peripheral schwannoma, Occasional neurofibromas, Bilateral vest... |
OMIM:101000 |
Tangier Disease |
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Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... |
ORPHA:31150 |
Charge Syndrome |
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Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Abnormal cardiac septu... |
ORPHA:138 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Atrial Septal Defect, Ostium Primum Type |
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Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... |
ORPHA:99106 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... |
OMIM:613179 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cerebellar vermis hypoplasia, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:228308 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Right atrial enlargement, Mitral valve prolapse |
OMIM:620233 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul... |
OMIM:245150 |
Aicardi Syndrome |
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Cerebellar vermis hypoplasia, Optic disc coloboma, Optic atrophy, Gray matter heterotopia, Chiari... |
OMIM:304050 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Radio-Tartaglia Syndrome |
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Gray matter heterotopia |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti... |
OMIM:300967 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic nerve hypoplasia, Proportionate short stature, Dysplastic corpus callosum, Optic atrophy, S... |
ORPHA:500150 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Periventricular heterotopia |
OMIM:614105 |
Leprosy |
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Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... |
ORPHA:548 |
Atrial Septal Defect, Coronary Sinus Type |
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Right ventricular dilatation, Anomalous pulmonary venous return, Unroofed coronary sinus, Right a... |
ORPHA:99104 |
Trichorhinophalangeal Syndrome, Type Ii |
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Osteochondroma, Scapular winging, Bicuspid aortic valve, Myocardial infarction, Cerebral arteriov... |
OMIM:150230 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defe... |
ORPHA:261552 |
Acromelic Frontonasal Dysostosis |
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Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Optic nerve h... |
OMIM:603671 |
Holoprosencephaly 14 |
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Cerebellar atrophy, Periventricular heterotopia, Aqueductal stenosis, Partial absence of cerebell... |
OMIM:619895 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv... |
ORPHA:261537 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Short neck |
OMIM:601559 |
Unilateral Polymicrogyria |
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Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation |
ORPHA:66628 |
Orofaciodigital Syndrome Type 6 |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
ORPHA:2754 |
Lenz-Majewski Hyperostotic Dwarfism |
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Short stature, Microcephaly, Dysplastic corpus callosum, Intrauterine growth retardation, Spina b... |
OMIM:151050 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Polymicrogyria, Abnormality of neuronal migration |
OMIM:608836 |
9Q21.13 Microdeletion Syndrome |
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Gray matter heterotopia |
ORPHA:531151 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation |
ORPHA:179494 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Down Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:190685 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Optic disc pallor, Abnormal brainstem morphology, Abnormality of neuronal migration |
ORPHA:464311 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity |
OMIM:242700 |
Marfan Syndrome |
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Bicuspid aortic valve, Emphysema, Pneumothorax, Mitral annular calcification, Mitral valve prolap... |
OMIM:154700 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Cerebell... |
ORPHA:75857 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria, Optic disc pallor |
OMIM:214100 |
Alg11-Cdg |
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Gray matter heterotopia |
ORPHA:280071 |
Thanatophoric Dysplasia, Type I |
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Gray matter heterotopia |
OMIM:187600 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Tetrasomy 9P |
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Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck, Abnormal cardiac se... |
ORPHA:3310 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia |
ORPHA:1860 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Osteogenesis Imperfecta, Type Vii |
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Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Genitourinary And/Or Brain Malformation Syndrome |
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Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Pauci-Immune Glomerulonephritis |
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Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage |
ORPHA:93126 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
16Q24.3 Microdeletion Syndrome |
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Optic nerve hypoplasia, Periventricular heterotopia |
ORPHA:261250 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Ventricular septal defect, Dysplastic corpus callosum, Abnormal left ventricle morphology, Ebstei... |
ORPHA:466791 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia |
OMIM:618870 |
Holoprosencephaly |
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Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration, Dandy-Wal... |
ORPHA:2162 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Atrial Septal Defect, Ostium Secundum Type |
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Right ventricular dilatation, Abnormal mitral valve morphology, Right atrial enlargement |
ORPHA:99103 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gray matter heterotopia |
ORPHA:26791 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:1677 |
Maternal Phenylketonuria |
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Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear... |
ORPHA:2209 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
16P13.11 Microdeletion Syndrome |
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Abnormality of neuronal migration |
ORPHA:261236 |
Immunodeficiency 58 |
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Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia |
OMIM:219730 |
Orofaciodigital Syndrome Xiv |
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Cerebellar vermis hypoplasia, Periventricular heterotopia, Optic disc coloboma, Simplified gyral ... |
OMIM:615948 |
Legius Syndrome |
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Short stature, Neurofibroma, Mitral valve prolapse, Vestibular schwannoma, Pulmonic stenosis |
ORPHA:137605 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Periventricular heterotopia |
OMIM:618929 |
X-Linked Intellectual Disability, Nascimento Type |
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Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... |
ORPHA:163956 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Plexiform neurofibroma |
OMIM:276300 |
Costello Syndrome |
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Short stature, Ventricular septal defect, Hydrocephalus, Cerebral atrophy, Mitral valve prolapse,... |
OMIM:218040 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia |
OMIM:610443 |
Chronic Thromboembolic Pulmonary Hypertension |
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Right ventricular dilatation, Right atrial enlargement |
ORPHA:70591 |
Vici Syndrome |
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Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... |
OMIM:242840 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Wolcott-Rallison Syndrome |
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Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu... |
ORPHA:2152 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Orofaciodigital Syndrome I |
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Gray matter heterotopia, Abnormal cortical gyration, Cerebellar cyst |
OMIM:311200 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Opitz-Kaveggia Syndrome |
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Gray matter heterotopia |
OMIM:305450 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Optic nerve hypoplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Optic nerve hypoplasia |
ORPHA:352665 |
Lipodystrophy, Familial Partial, Type 7 |
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Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation |
OMIM:606721 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microlis... |
OMIM:210710 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Frank-Ter Haar Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Witteveen-Kolk Syndrome |
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Short stature, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Growth delay, Hypopl... |
OMIM:613406 |
Nijmegen Breakage Syndrome |
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Abnormality of neuronal migration |
ORPHA:647 |
Fontaine Progeroid Syndrome |
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Gray matter heterotopia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular het... |
OMIM:612289 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration |
ORPHA:3186 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Aganglionic megacolon, Periventricular heterotopia, Chiari type I malformatio... |
OMIM:270400 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation, Periventricular het... |
ORPHA:434179 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Dandy-Walker malformation |
OMIM:236680 |
Doors Syndrome |
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Double outlet right ventricle, Spina bifida occulta, Optic atrophy |
ORPHA:79500 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Genitopatellar Syndrome |
|
Pachygyria, Periventricular heterotopia |
OMIM:606170 |