Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Macrocephaly, Benign Familial |
|
Biparietal narrowing, Frontal bossing, Macrocephaly, Dolichocephaly |
OMIM:153470 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Non-Distal Monosomy 10Q |
|
Biparietal narrowing, Upslanted palpebral fissure, Ptosis, Synophrys, Epicanthus |
ORPHA:1581 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Biparietal narrowing, Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Ptosis, Highly ar... |
ORPHA:228396 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Pulmonary artery atresia |
OMIM:606217 |
Macrocephaly/Autism Syndrome |
|
Biparietal narrowing, Frontal bossing, Postnatal macrocephaly |
OMIM:605309 |
1Q44 Microdeletion Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Frontal bossing, Synophrys, Epic... |
ORPHA:238769 |
Immunodeficiency 49 |
|
Upslanted palpebral fissure, Wormian bones, Short palpebral fissure, Pulmonary artery stenosis |
OMIM:617237 |
Placental Insufficiency |
|
Abnormal placenta morphology, Eclampsia, Maternal hypertension, Small placenta, Preeclampsia, Abn... |
ORPHA:439167 |
Tetraploidy |
|
Biparietal narrowing, Microcephaly, Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
8P23.1 Microdeletion Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Tetralogy of Fallot, Patent ductus arteriosus,... |
ORPHA:251071 |
Toluene Embryopathy |
|
Epicanthus, Short palpebral fissure, Microcephaly, Biparietal narrowing |
ORPHA:1920 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
Isotretinoin Syndrome |
|
Biparietal narrowing |
ORPHA:2305 |
Fetal Alcohol Syndrome |
|
Biparietal narrowing, Ptosis, Microcephaly, Epicanthus, Telecanthus |
ORPHA:1915 |
Lig4 Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Brachycephaly, Epicanthus, Telec... |
ORPHA:99812 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Microcephaly, Biparietal narrowing, Abnormal eyelash morphology |
ORPHA:2518 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Biparietal narrowing, Abnormality of calvarial morphology, Ptosis |
ORPHA:1323 |
Intellectual Disability, Buenos-Aires Type |
|
Biparietal narrowing, Downslanted palpebral fissures, Microcephaly, Blepharophimosis, Abnormality... |
ORPHA:3079 |
Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Upslanted palpebral fissure, Plagiocephaly, Left unicoronal synostosis, Peripheral pulmonary arte... |
OMIM:614749 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Biparietal narrowing, Downslanted palpebral fissures |
ORPHA:1770 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Biparietal narrowing, Thick eyebrow, Microcephaly, Frontal bossing, Brachycephaly, Epicanthus |
ORPHA:1292 |
3Q29 Microduplication Syndrome |
|
Biparietal narrowing, Craniosynostosis, Downslanted palpebral fissures, Microcephaly, Large fonta... |
ORPHA:251038 |
Peho Syndrome |
|
Biparietal narrowing, Palpebral edema, Midface retrusion, Microcephaly, Recurrent respiratory inf... |
ORPHA:2836 |
Keutel Syndrome |
|
Recurrent sinusitis, Recurrent respiratory infections, Pulmonary artery stenosis, Midface retrusion |
ORPHA:85202 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Biparietal narrowing, Blepharophimosis, Ptosis |
ORPHA:2031 |
Tricuspid Atresia |
|
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... |
ORPHA:1209 |
X-Linked Intellectual Disability, Cabezas Type |
|
Biparietal narrowing, Downslanted palpebral fissures, Microcephaly, Synophrys, Epicanthus, Blepha... |
ORPHA:85293 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Frontal bossing, Delayed crani... |
ORPHA:276432 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Cranioectodermal Dysplasia 3 |
|
Dolichocephaly, Sagittal craniosynostosis, Peripheral pulmonary artery stenosis, Frontal bossing,... |
OMIM:614099 |
Truncus Arteriosus |
|
Tetralogy of Fallot, Anomalous origin of the left common carotid artery from the brachiocephalic ... |
ORPHA:3384 |
Mucolipidosis Type Iv |
|
Microcephaly, Biparietal narrowing |
ORPHA:578 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Microcephaly, Upslanted palpebral fissure, Turricephaly, Biparietal narrowing |
ORPHA:1005 |
Ogden Syndrome |
|
Long eyelashes, Sparse eyebrow, Palpebral thickening, Downslanted palpebral fissures, Microcephal... |
OMIM:300855 |
15Q14 Microdeletion Syndrome |
|
Microcephaly, Biparietal narrowing |
ORPHA:261190 |
Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Right aortic arch, Pulmonary artery atresia, Double aortic arch, Aortopulmon... |
OMIM:618780 |
Linear Nevus Sebaceus Syndrome |
|
Prominent occiput, Biparietal narrowing, Plagiocephaly, Frontal bossing, Telecanthus |
ORPHA:2612 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis, Microcephaly |
OMIM:615119 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Microcephaly, Pulmonary artery stenosis |
ORPHA:435938 |
Joubert Syndrome With Oculorenal Defect |
|
Biparietal narrowing, Ptosis, Highly arched eyebrow |
ORPHA:2318 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia |
OMIM:613759 |
Joubert Syndrome With Renal Defect |
|
Biparietal narrowing, Ptosis, Highly arched eyebrow |
ORPHA:220497 |
Joubert Syndrome |
|
Biparietal narrowing, Ptosis, Highly arched eyebrow |
ORPHA:475 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... |
OMIM:611788 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Upslanted palpebral fissure, Pulmonary artery stenosis |
ORPHA:75389 |
Van Esch-O'Driscoll Syndrome |
|
Microcephaly, Upslanted palpebral fissure, Pulmonary artery stenosis |
OMIM:301030 |
Congenital Heart Defects, Multiple Types, 6 |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Double outlet right ventricle, Coar... |
OMIM:613854 |
Arterial Tortuosity Syndrome |
|
Short palpebral fissure, Craniosynostosis, Aortic root aneurysm, Aortic dissection, Aortic aneury... |
ORPHA:3342 |
Kleefstra Syndrome |
|
Upslanted palpebral fissure, Tetralogy of Fallot, Coarctation of aorta, Highly arched eyebrow, Mi... |
ORPHA:261494 |
16Q24.3 Microdeletion Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Frontal bossing, Highly arched eyebrow |
ORPHA:261250 |
Lathosterolosis |
|
Biparietal narrowing, Ptosis, Microcephaly, Downslanted palpebral fissures, Epicanthus, Prominent... |
ORPHA:46059 |
Joubert Syndrome With Ocular Defect |
|
Biparietal narrowing, Ptosis, Highly arched eyebrow |
ORPHA:220493 |
Cardiofaciocutaneous Syndrome |
|
Biparietal narrowing, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ptosis, Dow... |
ORPHA:1340 |
Mosaic Trisomy 9 |
|
Prominent occiput, Upslanted palpebral fissure, Biparietal narrowing, Patent ductus arteriosus, M... |
ORPHA:99776 |
Hadziselimovic Syndrome |
|
Tetralogy of Fallot, Ptosis, Microcephaly, Pulmonary artery atresia, Epicanthus |
OMIM:612946 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... |
OMIM:610338 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Upslanted palpebral fissure, Craniosynostosis, Patent ductus arteriosus, Aortic root aneurysm, Sp... |
OMIM:617506 |
Arterial Tortuosity Syndrome |
|
Blepharophimosis, Generalized arterial tortuosity, Downslanted palpebral fissures, Pulmonary arte... |
OMIM:208050 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology |
ORPHA:217260 |
Monosomy 18Q |
|
Biparietal narrowing, Patent ductus arteriosus, Downslanted palpebral fissures, Aortic aneurysm, ... |
ORPHA:1600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Epicanthus, Microcephaly, Dolichocephaly, Pulmonary artery stenosis |
OMIM:300998 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Telecanthus, Craniosynostosis, Peripheral pulmonary artery stenosis |
OMIM:300707 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return |
OMIM:614433 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Small placenta |
ORPHA:397590 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
Distal 22Q11.2 Microduplication Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Patent ductus arteriosus, Palpebral edema, Dow... |
ORPHA:261337 |
Joubert Syndrome With Hepatic Defect |
|
Biparietal narrowing, Macrocephaly, Ptosis, Highly arched eyebrow |
ORPHA:1454 |
Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Ptosis, Patent ductus arteriosus, Highly arched eyebrow |
ORPHA:2712 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, Highly arched eyebr... |
OMIM:618316 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... |
OMIM:132900 |
Alagille Syndrome |
|
Downslanted palpebral fissures, Frontal bossing, Brachycephaly, Peripheral pulmonary artery stenosis |
ORPHA:52 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Interrupted i... |
OMIM:613751 |
X-Linked Intellectual Disability, Nascimento Type |
|
Upslanted palpebral fissure, Tetralogy of Fallot, Patent ductus arteriosus, Peripheral pulmonary ... |
ORPHA:163956 |
Orofaciodigital Syndrome Type 6 |
|
Epicanthus, Biparietal narrowing, Frontal bossing, Highly arched eyebrow |
ORPHA:2754 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Midface retrusion, Downslanted palpebral fissures, Pulmonary artery atresia, ... |
ORPHA:401935 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Plagiocephaly, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Frontal bossing, Brachy... |
OMIM:280000 |
Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... |
ORPHA:229 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Biparietal narrowing, Recurrent respiratory infections |
ORPHA:935 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... |
ORPHA:99050 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Emphysema, Midface retrusion, Pulmonary artery stenosis, Vascular dilatation, Pulmonary hypoplasia |
OMIM:613177 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis |
OMIM:611812 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Microcephaly |
OMIM:312080 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Peripheral pulmonary artery stenosis, Eyelid coloboma |
OMIM:613001 |
Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Double outlet right ventricle |
OMIM:617205 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254534 |
Omodysplasia 1 |
|
Popliteal pterygium, Frontal bossing, Narrow palpebral fissure, Pulmonary artery stenosis, Axilla... |
OMIM:258315 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Arterial intimal fibro... |
OMIM:178600 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Tetralogy of Fallot, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pulmona... |
OMIM:265380 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Emphysema, Recurrent pneumonia, Dilatation of the ventricular cavity, Peripheral pulmonary artery... |
ORPHA:90349 |
Smith-Lemli-Opitz Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Patent ductus arteriosus, Abnormal eyelash mor... |
ORPHA:818 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Prominent occiput, Upslanted palpebral fissure, Blepharitis, Patent ductus arteriosus, Aortic roo... |
ORPHA:280633 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis |
OMIM:600333 |
Cardiac Diverticulum |
|
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery hypoplasia, Partial anomalous pul... |
ORPHA:1686 |
Recombinant 8 Syndrome |
|
Tetralogy of Fallot, Pulmonary artery stenosis, Patent ductus arteriosus |
ORPHA:96167 |
Autosomal Dominant Cutis Laxa |
|
Emphysema, Wormian bones, Bronchiolitis, Dilatation of the ventricular cavity, Peripheral pulmona... |
ORPHA:90348 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Microcephaly, Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary arte... |
ORPHA:2257 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus |
ORPHA:79345 |
Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis, Pulmonary artery stenosis, Midface retrusion |
ORPHA:648 |
Relapsing Polychondritis |
|
Biparietal narrowing, Conjunctivitis, Vascular dilatation, Large vessel vasculitis |
ORPHA:728 |
Trisomy 8P |
|
Upslanted palpebral fissure, Tetralogy of Fallot, Recurrent upper respiratory tract infections, M... |
ORPHA:264450 |
Scimitar Syndrome |
|
Bronchogenic cyst, Tetralogy of Fallot, Pulmonary sequestration, Pulmonary artery hypoplasia, Pat... |
ORPHA:185 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Recurrent aspiration pneumonia, Astrocytosis |
ORPHA:204 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Tetralogy of Fallot, Pulmonary artery atresia |
OMIM:108900 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Pulmonary artery stenosis, Eyelid coloboma |
ORPHA:140952 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dolichocephaly, Dilatation of the ventricular cavity, Microcephaly, Narrow palpebral fissure, Pul... |
ORPHA:459070 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Macrocephaly, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Phaver Syndrome |
|
Pterygium, Epicanthus, Coarctation of aorta, Downslanted palpebral fissures, Pulmonary artery atr... |
ORPHA:2876 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic dissection, Relative macrocephaly, Downslanted palpebral fissur... |
OMIM:300989 |
Werner Syndrome |
|
Atherosclerosis, Neoplasm of the lung, Pulmonary artery stenosis |
ORPHA:902 |
C Syndrome |
|
Biparietal narrowing, Upslanted palpebral fissure, Microcephaly, Epicanthus, Trigonocephaly |
ORPHA:1308 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short palpebral fissure, Wormian bones, Abnormal aortic arch morphology, Plagiocephaly, Microceph... |
ORPHA:96334 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Macrocephaly, Craniosynostosis, Pulmonary artery stenosis |
ORPHA:667 |
Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Adams-Oliver Syndrome 1 |
|
Microcephaly, Tetralogy of Fallot, Calvarial skull defect, Pulmonary artery stenosis |
OMIM:100300 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Tetralogy of Fallot, Patent ductus arteriosus, Microcephaly, Pulmonary artery... |
OMIM:600001 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Fetal akinesia sequence, Polyhydramnios, Small placenta, Premature birth, S... |
OMIM:208150 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis |
OMIM:172500 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Double outlet right ventricle, Metopic synostosis, Downslanted palpebral fissur... |
OMIM:301056 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Macrocephaly, Astrocytosis |
OMIM:611087 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Peripheral arterial stenosis, Distichiasis, Patent ductus arteriosus |
OMIM:126320 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Blepharophimosis, Unilateral primary pulmonary dysgenesis, Microcephaly, Pul... |
OMIM:192430 |
Aminopterin/Methotrexate Embryofetopathy |
|
Epicanthus, Microcephaly, Tetralogy of Fallot, Pulmonary artery atresia |
ORPHA:1908 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery stenosis, Transposition of the gr... |
ORPHA:2255 |
Keutel Syndrome |
|
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Midface retrusion, ... |
OMIM:245150 |
Seckel Syndrome 9 |
|
Dolichocephaly, Pulmonary artery hypoplasia, Microcephaly, Recurrent respiratory infections, Scap... |
OMIM:616777 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Mixed total a... |
ORPHA:99125 |
Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Interrupted inferior vena c... |
OMIM:616749 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Decreased fetal movement, Polyhydramnios, Spina bifida, Sm... |
OMIM:256520 |
Hardikar Syndrome |
|
Patent ductus arteriosus, Lacrimal duct stenosis, Partial anomalous pulmonary venous return, Coar... |
OMIM:301068 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Double Outlet Right Ventricle |
|
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle, Pulmonary artery atresi... |
ORPHA:3426 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ptosis, Broad eyebrow, Downslanted palpebral fissures, Pulmonary artery... |
OMIM:235730 |
Alagille Syndrome 1 |
|
Upslanted palpebral fissure, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Coarctati... |
OMIM:118450 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:84064 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
Mosaic Trisomy 1 |
|
Small anterior fontanelle, Coarctation of aorta, Downslanted palpebral fissures, Frontal bossing,... |
ORPHA:1692 |
Right Atrial Isomerism |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary artery atresia, Transposi... |
OMIM:208530 |
Restrictive Dermopathy |
|
Short umbilical cord, Decreased fetal movement, Premature delivery because of cervical insufficie... |
ORPHA:1662 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Generalized arterial tortuosity, Pulmonary artery aneurysm, Pulmonary artery dilatatio... |
OMIM:614437 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Bilateral lung agen... |
OMIM:601186 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Upslanted palpebral fissure, Patent ductus arteriosus, Long eyelashes, Midface retrusion, Frontal... |
OMIM:616894 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254528 |
Fibromuscular Dysplasia, Multifocal |
|
Carotid artery tortuosity, Dolichocephaly, Pulmonary artery aneurysm, Tortuous cerebral arteries,... |
OMIM:619329 |
Williams Syndrome |
|
Aortic arch aneurysm, Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Retinal ar... |
ORPHA:904 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Single coronary artery origin, Dextrotransposition of the great arterie... |
OMIM:619702 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Greenberg Dysplasia |
|
Toxemia of pregnancy, Hydrops fetalis, Nonimmune hydrops fetalis, Large placenta, Polyhydramnios,... |
OMIM:215140 |
Stuve-Wiedemann Syndrome 1 |
|
Short palpebral fissure, Midface retrusion, Frontal bossing, Pulmonary arterial medial hypertroph... |
OMIM:601559 |
Kagami-Ogata Syndrome |
|
Large placenta, Polyhydramnios, Premature birth |
ORPHA:254519 |
Williams-Beuren Syndrome |
|
Coronary artery stenosis, Retinal arteriolar tortuosity, Peripheral pulmonary artery stenosis, Mi... |
OMIM:194050 |
Congenital Tracheomalacia |
|
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Patent d... |
ORPHA:95430 |
Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth |
ORPHA:1708 |
Scleromyxedema |
|
Abnormal pulmonary artery morphology, Abnormal lung morphology, Abnormal coronary artery morphology |
ORPHA:167635 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Tetralogy of Fallot, Arteriovenous malformation, Calvarial skull defect |
ORPHA:974 |
Trichohepatoenteric Syndrome 1 |
|
Large placenta, Polyhydramnios, Abnormalities of placenta or umbilical cord |
OMIM:222470 |
Hyperlysinemia |
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Recurrent pneumonia, Craniosynostosis, Pulmonary artery hypoplasia, Thin eyebrow, Microcephaly |
ORPHA:2203 |
Kallmann Syndrome-Heart Disease Syndrome |
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Right aortic arch, Anomalous origin of left coronary artery from the pulmonary artery, Double out... |
ORPHA:2326 |
Inherited Creutzfeldt-Jakob Disease |
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Astrocytosis |
ORPHA:282166 |
Osteogenesis Imperfecta, Type Vii |
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Decreased calvarial ossification, Absent pulmonary artery, Wormian bones, Delayed cranial suture ... |
OMIM:610682 |
Hughes-Stovin Syndrome |
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Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Anencephaly, Large placenta, Single umbilical artery, Breech presentatio... |
OMIM:249000 |
Restrictive Dermopathy 1 |
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Short umbilical cord, Premature rupture of membranes, Decreased fetal movement, Polyhydramnios, P... |
OMIM:275210 |
Non-Specific Syndromic Intellectual Disability |
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Aortic root aneurysm, Pulmonary artery dilatation, Highly arched eyebrow, Ptosis, Downslanted pal... |
ORPHA:528084 |
Pagod Syndrome |
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Pulmonary artery hypoplasia, Microcephaly, Abnormality of the pulmonary artery, Abnormal aortic m... |
ORPHA:991 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta |
OMIM:600460 |
Marfan Syndrome |
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Emphysema, Dolichocephaly, Descending aortic dissection, Pulmonary artery dilatation, Arterial di... |
ORPHA:558 |
Congenital Tracheal Stenosis |
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Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Pulmona... |
ORPHA:141127 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Gliosis, Astrocytosis |
OMIM:203700 |
Heterotaxy, Visceral, 5, Autosomal |
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Bilateral trilobed lungs, Total anomalous pulmonary venous return, Patent ductus arteriosus, Dext... |
OMIM:270100 |
Loeys-Dietz Syndrome 2 |
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Aortic arch aneurysm, Craniosynostosis, Abdominal aortic aneurysm, Patent ductus arteriosus, Aort... |
OMIM:610168 |
Cardiomyopathy, Dilated, 1S |
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Coarctation of aorta, Pulmonary artery hypoplasia |
OMIM:613426 |
Beckwith-Wiedemann Syndrome |
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Subchorionic septal cyst, Large placenta, Polyhydramnios, Premature birth, Umbilical hernia |
ORPHA:116 |
Loeys-Dietz Syndrome 1 |
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Craniosynostosis, Patent ductus arteriosus, Aortic root aneurysm, Pulmonary artery aneurysm, Desc... |
OMIM:609192 |
Cockayne Syndrome Type 3 |
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Progressive microcephaly, Aortic root aneurysm, Astrocytosis, Vascular calcification, Premature c... |
ORPHA:90324 |
Marfan Syndrome |
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Emphysema, Dolichocephaly, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, ... |
OMIM:154700 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Microcephaly, Astrocytosis |
ORPHA:309854 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Recurrent lower respiratory tract infections, Astrocytosis |
ORPHA:258 |
Viss Syndrome |
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Carotid artery tortuosity, Double outlet right ventricle, Ptosis, Microcephaly, Emphysema, Patent... |
OMIM:619472 |
Charge Syndrome |
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Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, P... |
OMIM:214800 |
Atrial Septal Defect, Ostium Primum Type |
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Recurrent respiratory infections, Pulmonary artery dilatation |
ORPHA:99106 |
Vascular Ehlers-Danlos Syndrome |
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Arteriovenous fistula, Hypoplastic lacrimal duct, Peripheral arteriovenous fistula, Aplasia/Hypop... |
ORPHA:286 |
Alzahrani-Kuwahara Syndrome |
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Microcephaly, Pulmonary artery sling, Frontal bossing, Persistent left superior vena cava |
OMIM:619268 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Upslanted palpebral fissure, Patent ductus arteriosus, Pulmonary artery dilatation, Recurrent res... |
OMIM:619534 |
Congenitally Corrected Transposition Of The Great Arteries |
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Bilateral superior vena cava with bridging vein, Double aortic arch, Pulmonary artery atresia, Pa... |
ORPHA:216694 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Tetralogy of Fallot, Right unicoronal synostosis, Patent ductus arteriosus, Coarctation of aorta,... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Tetralogy of Fallot, Right unicoronal synostosis, Coarctation of aorta, Broad eyebrow, Ptosis, Pu... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Broad eyebrow, Microcephaly,... |
ORPHA:2152 |
Melorheostosis, Isolated |
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OMIM:155950 |
Cardiofaciocutaneous Syndrome 3 |
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OMIM:615279 |