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 |
|
Macrocephaly, Biparietal narrowing, Dolichocephaly, Frontal bossing |
OMIM:153470 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Craniosynostosis 1 |
|
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... |
OMIM:123100 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis |
OMIM:614432 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Non-Distal Monosomy 10Q |
|
Epicanthus, Synophrys, Biparietal narrowing, Ptosis, Upslanted palpebral fissure |
ORPHA:1581 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Absent eyelashes, Biparietal narrowing, Ptosis, Thick eyebrow, Highly ar... |
ORPHA:228396 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Maternal hypertension, Preeclampsia, Small place... |
ORPHA:439167 |
Toluene Embryopathy |
|
Short palpebral fissure, Biparietal narrowing, Microcephaly, Epicanthus |
ORPHA:1920 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Biparietal narrowing, Microcephaly |
ORPHA:3305 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Abnormal aortic morphology, Epicanthus,... |
ORPHA:251071 |
1Q44 Microdeletion Syndrome |
|
Epicanthus, Synophrys, Biparietal narrowing, Frontal bossing, Microcephaly, Upslanted palpebral f... |
ORPHA:238769 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
Macrocephaly/Autism Syndrome |
|
Dilation of Virchow-Robin spaces, Epicanthus, Biparietal narrowing, Midface retrusion, Frontal bo... |
OMIM:605309 |
Isotretinoin Syndrome |
|
Biparietal narrowing |
ORPHA:2305 |
Fetal Alcohol Syndrome |
|
Epicanthus, Biparietal narrowing, Ptosis, Microcephaly, Telecanthus |
ORPHA:1915 |
Lig4 Syndrome |
|
Brachycephaly, Epicanthus, Biparietal narrowing, Microcephaly, Upslanted palpebral fissure, Telec... |
ORPHA:99812 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Biparietal narrowing, Microcephaly, Abnormal eyelash morphology |
ORPHA:2518 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Ptosis, Biparietal narrowing, Abnormal calvaria morphology |
ORPHA:1323 |
Intellectual Disability, Buenos-Aires Type |
|
Downslanted palpebral fissures, Blepharophimosis, Biparietal narrowing, Abnormal calvaria morphol... |
ORPHA:3079 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Plagiocephaly, Long palpebral fissure, Microcephaly, Peripheral pulmo... |
OMIM:614749 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Epicanthus, Biparietal narrowing, Frontal bossing, Microcephaly, Thick eyebrow |
ORPHA:1292 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Downslanted palpebral fissures, Biparietal narrowing, Epicanthus |
ORPHA:1770 |
Peho Syndrome |
|
Epicanthus, Biparietal narrowing, Midface retrusion, Palpebral edema, Microcephaly, Recurrent res... |
ORPHA:2836 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Ptosis, Biparietal narrowing |
ORPHA:2031 |
Keutel Syndrome |
|
Recurrent respiratory infections, Midface retrusion, Recurrent sinusitis, Pulmonary artery stenosis |
ORPHA:85202 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... |
ORPHA:1209 |
3Q29 Microduplication Syndrome |
|
Downslanted palpebral fissures, Macrocephaly, Biparietal narrowing, Microcephaly, Craniosynostosis |
ORPHA:251038 |
X-Linked Intellectual Disability, Cabezas Type |
|
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Synophrys, Macrocephaly, Biparietal... |
ORPHA:85293 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Upslanted palpebral fissure, Biparietal narrowing, Turricephaly, Microcephaly |
ORPHA:1005 |
Truncus Arteriosus |
|
Abnormal superior vena cava morphology, Patent ductus arteriosus, Truncus arteriosus, Anomalous o... |
ORPHA:3384 |
Mucolipidosis Type Iv |
|
Biparietal narrowing, Microcephaly |
ORPHA:578 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... |
OMIM:618780 |
15Q14 Microdeletion Syndrome |
|
Biparietal narrowing, Microcephaly |
ORPHA:261190 |
Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Telecanthus |
ORPHA:2612 |
Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, Scaphocephaly, Macrocephaly, Dolichocephaly, Frontal bossing, Peripher... |
OMIM:614099 |
Ogden Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Pulmonary artery stenosis, Fro... |
ORPHA:276432 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Microcephaly, Pulmonary artery stenosis |
ORPHA:435938 |
Joubert Syndrome With Oculorenal Defect |
|
Ptosis, Biparietal narrowing, Highly arched eyebrow |
ORPHA:2318 |
Congenital Myopathy 12 |
|
Scaphocephaly, Dolichocephaly, Pulmonary artery stenosis |
OMIM:612540 |
Joubert Syndrome With Renal Defect |
|
Ptosis, Biparietal narrowing, Highly arched eyebrow |
ORPHA:220497 |
Joubert Syndrome |
|
Ptosis, Biparietal narrowing, Highly arched eyebrow |
ORPHA:475 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Upslanted palpebral fissure, Pulmonary artery stenosis |
ORPHA:75389 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium |
OMIM:613759 |
Cardiofaciocutaneous Syndrome |
|
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Epicanthus, Macrocephaly, Bipa... |
ORPHA:1340 |
Joubert Syndrome With Ocular Defect |
|
Ptosis, Biparietal narrowing, Highly arched eyebrow |
ORPHA:220493 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Short palpebral fissure, Vascular dilatation, Abnormal carotid artery morph... |
ORPHA:3342 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... |
OMIM:613854 |
Kleefstra Syndrome |
|
Brachycephaly, Synophrys, Coarctation of aorta, Tetralogy of Fallot, Microcephaly, Pulmonary arte... |
ORPHA:261494 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent ductus arteriosus, Downslanted palpebral fissures, Lacrimal duct ste... |
OMIM:617506 |
Monosomy 18Q |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Aorti... |
ORPHA:1600 |
16Q24.3 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Biparietal narrowing, Highly arched eyebrow, Frontal bossing |
ORPHA:261250 |
Immunodeficiency 49 |
|
Short palpebral fissure, Upslanted palpebral fissure, Pulmonary artery stenosis |
OMIM:617237 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
Hadziselimovic Syndrome |
|
Epicanthus, Ptosis, Microcephaly, Pulmonary artery atresia, Tetralogy of Fallot |
OMIM:612946 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Short palpebral fissure, Downslanted palpebral fissures,... |
OMIM:208050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Epicanthus, Dilation of Virchow-Robin spaces, Dolichocephaly, Microcephaly, Pulmonary artery sten... |
OMIM:300998 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Biparietal narrowing, Abnormal lung lobation, Prominent occiput, Microc... |
ORPHA:99776 |
Lathosterolosis |
|
Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Ptosis, Microcephaly |
ORPHA:46059 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology |
ORPHA:217260 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return |
OMIM:614433 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:610205 |
Joubert Syndrome With Hepatic Defect |
|
Ptosis, Macrocephaly, Biparietal narrowing, Highly arched eyebrow |
ORPHA:1454 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios |
ORPHA:397590 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Macrocephaly, Biparietal na... |
ORPHA:261337 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Ptosis, Highly arched eyebrow, Peripheral pulmonary artery stenosis |
ORPHA:2712 |
Orofaciodigital Syndrome Type 6 |
|
Biparietal narrowing, Epicanthus, Highly arched eyebrow, Frontal bossing |
ORPHA:2754 |
Alagille Syndrome |
|
Brachycephaly, Downslanted palpebral fissures, Peripheral pulmonary artery stenosis, Frontal bossing |
ORPHA:52 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Plagiocephaly, Epicanthus, Frontal bossing, Peripheral pulmonary artery stenosis, ... |
OMIM:280000 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Downslanted palpebral fissures, Vascular dilatation, Pneumothorax, Dilatation of the ventricular ... |
ORPHA:90349 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Truncus arteriosus, Synophrys, Midface retrusion, Pulmonary arter... |
ORPHA:401935 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... |
ORPHA:99050 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Biparietal narrowing, Recurrent respiratory infections |
ORPHA:935 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Double outlet right ventricle, Synophrys, Macrocephaly, Midface retrusi... |
ORPHA:163956 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis |
OMIM:611812 |
Heterotaxy, Visceral, 4, Autosomal |
|
Transposition of the great arteries, Bilateral superior vena cava, Total anomalous pulmonary veno... |
OMIM:613751 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Microcephaly |
OMIM:312080 |
Werner Syndrome |
|
Atherosclerosis, Neoplasm of the lung, Pulmonary artery stenosis, Abnormal cerebral vascular morp... |
ORPHA:902 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254534 |
Van Esch-O'Driscoll Syndrome |
|
Short palpebral fissure, Microcephaly, Pulmonary artery stenosis, Upslanted palpebral fissure, Sh... |
OMIM:301030 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Downslanted palpebral fissures, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Encephalocraniocutaneous Lipomatosis |
|
Eyelid coloboma, Limbal dermoid, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Recurrent aspiration pneumonia, Epicanthus, Synop... |
ORPHA:280633 |
Omodysplasia 1 |
|
Epicanthus, Blepharophimosis, Narrow palpebral fissure, Axillary pterygium, Frontal bossing, Popl... |
OMIM:258315 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Patent ductus arteriosus, Brachycephaly, Alveolar capillary dysplasia, Interrupted aortic arch, P... |
OMIM:265380 |
Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Biparietal narrowing, Abnor... |
ORPHA:818 |
Down Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Brachycephaly, Upslanted palpebral fissu... |
OMIM:190685 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Arterial intimal fibrosis, Pulmonary arterial medial hypertrop... |
OMIM:178600 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Epicanthus, Pulmonary hypoplasia, Microcephaly, Recurrent respiratory infections, A... |
ORPHA:2257 |
Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary artery stenosis |
ORPHA:96167 |
Cardiac Diverticulum |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal coronary artery origin, Coarctatio... |
ORPHA:1686 |
Relapsing Polychondritis |
|
Conjunctivitis, Vascular dilatation, Large vessel vasculitis, Biparietal narrowing, Atelectasis |
ORPHA:728 |
Ogden Syndrome |
|
Patent ductus arteriosus, Sparse eyebrow, Downslanted palpebral fissures, Abnormal eyelid morphol... |
OMIM:300855 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Double outlet right ventricle, Synophrys, Macrocephaly, Pulmonary hypop... |
OMIM:618316 |
Scimitar Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary sequestration, Pneumothorax, T... |
ORPHA:185 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Vascular dilatation, Midface retrusion, Pulmonary hypoplasia, Dolichocephaly, Emphysema, Recurren... |
OMIM:613177 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Recurrent respiratory infections, Pulmonary artery stenosis |
ORPHA:79345 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Telecanthus, Eyelid coloboma, Pulmonary artery stenosis |
ORPHA:140952 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia, Tetralogy of Fallot |
OMIM:108900 |
Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis, Midface retrusion, Pulmonary artery stenosis |
ORPHA:648 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... |
OMIM:613834 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Recurrent aspiration pneumonia |
ORPHA:204 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Macrocephaly, Recurrent respiratory infections, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Phaver Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Pterygium, Coarctation of aorta, Hypoplastic aortic a... |
ORPHA:2876 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Coarctation of aorta, Emph... |
ORPHA:90348 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Epicanthus, Dolichocephaly, Narrow palpebral fissure, Micro... |
ORPHA:459070 |
Trisomy 8P |
|
Abnormal lung lobation, Recurrent upper respiratory tract infections, Microcephaly, Peripheral pu... |
ORPHA:264450 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Craniosynostosis, Telecanthus, Peripheral pulmonary artery stenosis |
OMIM:300707 |
C Syndrome |
|
Epicanthus, Biparietal narrowing, Microcephaly, Trigonocephaly, Upslanted palpebral fissure |
ORPHA:1308 |
Fetal Akinesia Deformation Sequence 1 |
|
Polyhydramnios, Fetal akinesia sequence, Short umbilical cord, Decreased fetal movement, Nonimmun... |
OMIM:208150 |
Autosomal Recessive Malignant Osteopetrosis |
|
Macrocephaly, Craniosynostosis, Pulmonary artery stenosis, Recurrent respiratory infections |
ORPHA:667 |
Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Bronchiectasis, Emphysema |
OMIM:123700 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Truncus arteriosus, Interrupted aortic arch, Pulmonary artery stenosis,... |
OMIM:600001 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Macrocephaly |
OMIM:611087 |
Alagille Syndrome 1 |
|
Coarctation of aorta, Frontal bossing, Renal artery stenosis, Peripheral pulmonary artery stenosi... |
OMIM:118450 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short palpebral fissure, Plagiocephaly, Epicanthus, Blepharophimosis, Pulmonary hypoplasia, Abnor... |
ORPHA:96334 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis, Varicose veins |
OMIM:126320 |
Adams-Oliver Syndrome 1 |
|
Calvarial skull defect, Tetralogy of Fallot, Microcephaly, Pulmonary artery stenosis |
OMIM:100300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Downslanted palpebral fissures, Macrocephaly, Midface retrusion, M... |
OMIM:301056 |
Velocardiofacial Syndrome |
|
Blepharophimosis, Interrupted aortic arch, Narrow palpebral fissure, Double aortic arch, Right ao... |
OMIM:192430 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot, Microcephaly, Epicanthus |
ORPHA:1908 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... |
OMIM:617205 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Mild microcephaly, Interrupted aortic arch, Pulmonary artery stenosis, ... |
ORPHA:2255 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pu... |
OMIM:616749 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Medial flaring of the eyebrow, Synophrys, Broad eyebrow, Narrow palpebr... |
OMIM:620113 |
Seckel Syndrome 9 |
|
Scaphocephaly, Dolichocephaly, Pulmonary artery hypoplasia, Microcephaly, Recurrent respiratory i... |
OMIM:616777 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Double outlet right ventricle, Cardiac total anomalous pulmonary venous... |
ORPHA:99125 |
Hardikar Syndrome |
|
Patent ductus arteriosus, Lacrimal duct stenosis, Coarctation of aorta, Pulmonary artery stenosis... |
OMIM:301068 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Narrow palpebral fissure, Coarctation of aorta... |
ORPHA:3426 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Fetal akinesia sequence, Spina bifida, Short umbilical cord, Decreased fetal move... |
OMIM:256520 |
Keutel Syndrome |
|
Recurrent bronchitis, Midface retrusion, Emphysema, Pulmonary artery hypoplasia, Peripheral pulmo... |
OMIM:245150 |
Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis |
ORPHA:225154 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Broad eyebrow, Pulmonary artery sling, ... |
OMIM:235730 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
ORPHA:84064 |
Restrictive Dermopathy |
|
Polyhydramnios, Short umbilical cord, Decreased fetal movement, Large placenta, Small placenta, P... |
ORPHA:1662 |
Right Atrial Isomerism |
|
Abnormal lung lobation, Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary a... |
OMIM:208530 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Upslanted palpebral fissure, Epicanthus, Macrocephaly, Midface retrusio... |
OMIM:616894 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Bilateral lung agenesis, Agenesis of pulmonary vess... |
OMIM:601186 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Downslanted palpebral fissures, Pulmonary artery aneurysm, Vascular tortuos... |
OMIM:614437 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Umbilical hernia, Large placenta |
ORPHA:254528 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Downslanted palpebral fissures, Aortopulmonary window, Macrocephaly, Pulmon... |
OMIM:620025 |
Mosaic Trisomy 1 |
|
Downslanted palpebral fissures, Congenital bilateral ptosis, Macrocephaly, Pulmonary hypoplasia, ... |
ORPHA:1692 |
Williams Syndrome |
|
Patent ductus arteriosus, Aortic arch aneurysm, Recurrent respiratory infections, Abnormal caroti... |
ORPHA:904 |
Fibromuscular Dysplasia, Multifocal |
|
Downslanted palpebral fissures, Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac art... |
OMIM:619329 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal coronary artery morphology, Abnormal lung morphology, Stroke,... |
ORPHA:167635 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Double outlet right ventricle, Congenitally corrected transposition of ... |
OMIM:619702 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Coronary artery stenosis, Epicanthus, Blepharophimosis, Retinal ar... |
OMIM:194050 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Stroke-like episode |
ORPHA:282166 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Greenberg Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Echogenic fetal bowel, Stillbirth, La... |
OMIM:215140 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Pulmonary... |
OMIM:300989 |
Mosaic Trisomy 16 |
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Maternal diabetes, Preeclampsia, Large placenta, Single umbilical artery, Premature birth |
ORPHA:1708 |
Kagami-Ogata Syndrome |
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Polyhydramnios, Premature birth, Large placenta |
ORPHA:254519 |
Congenital Tracheomalacia |
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Patent ductus arteriosus, Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Emphysema, Double a... |
ORPHA:95430 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Patent ductus arteriosus, Double outlet right ventricle, Epicanthus, Coarctation of aorta, Ptosis... |
OMIM:618164 |
Adams-Oliver Syndrome |
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Pulmonary artery atresia, Calvarial skull defect, Arteriovenous malformation, Tetralogy of Fallot |
ORPHA:974 |
Trichohepatoenteric Syndrome 1 |
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Polyhydramnios, Abnormalities of placenta or umbilical cord, Large placenta |
OMIM:222470 |
Hyperlysinemia |
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Thin eyebrow, Pulmonary artery hypoplasia, Recurrent pneumonia, Microcephaly, Craniosynostosis |
ORPHA:2203 |
Kallmann Syndrome-Heart Disease Syndrome |
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Pulmonary artery hypoplasia, Double outlet right ventricle, Right aortic arch, Anomalous origin o... |
ORPHA:2326 |
Hughes-Stovin Syndrome |
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Vasculitis, Pulmonary artery aneurysm, Arterial stenosis |
ORPHA:228116 |
Coffin-Siris Syndrome 4 |
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Patent ductus arteriosus, Long eyelashes, Ptosis, Microcephaly, Pulmonary artery atresia, Thick e... |
OMIM:614609 |
Progressive Non-Fluent Aphasia |
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Astrocytosis, Stroke |
ORPHA:100070 |
Pagod Syndrome |
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Abnormal aortic morphology, Pulmonary hypoplasia, Abnormality of the pulmonary artery, Pulmonary ... |
ORPHA:991 |
Heterotaxy, Visceral, 5, Autosomal |
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Bilateral trilobed lung, Double outlet right ventricle, Patent ductus arteriosus, Ascending tubul... |
OMIM:270100 |
Restrictive Dermopathy 1 |
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Polyhydramnios, Short umbilical cord, Hydropic placenta, Decreased fetal movement, Premature rupt... |
OMIM:275210 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta |
OMIM:600460 |
Cardiac Valvular Dysplasia 2 |
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Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
Meckel Syndrome, Type 1 |
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Anencephaly, Oligohydramnios, Breech presentation, Large placenta, Occipital encephalocele, Singl... |
OMIM:249000 |
Stuve-Wiedemann Syndrome 1 |
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Short palpebral fissure, Pulmonary arterial medial hypertrophy, Midface retrusion, Pulmonary hypo... |
OMIM:601559 |
Marfan Syndrome |
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Aortic tortuosity, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Descending a... |
ORPHA:558 |
Congenital Tracheal Stenosis |
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Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ascendi... |
ORPHA:141127 |
Cardiomyopathy, Dilated, 1S |
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Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Loeys-Dietz Syndrome 2 |
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Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... |
OMIM:610168 |
Beckwith-Wiedemann Syndrome |
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Polyhydramnios, Large placenta, Subchorionic septal cyst, Premature birth, Umbilical hernia |
ORPHA:116 |
Cockayne Syndrome Type 3 |
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Aortic root aneurysm, Stroke, Progressive microcephaly, Premature coronary artery atherosclerosis... |
ORPHA:90324 |
Loeys-Dietz Syndrome 1 |
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Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Astrocytosis, Recurrent lower respiratory tract infections, Atelectasis |
ORPHA:258 |
Marfan Syndrome |
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Aortic root aneurysm, Downslanted palpebral fissures, Ascending tubular aorta aneurysm, Pneumotho... |
OMIM:154700 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Astrocytosis, Microcephaly |
ORPHA:309854 |
Viss Syndrome |
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Aortic tortuosity, Brachycephaly, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery ... |
OMIM:619472 |
Osteogenesis Imperfecta, Type Vii |
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Absent pulmonary artery, Hypoplastic pulmonary veins, Decreased calvarial ossification |
OMIM:610682 |
Supranuclear Palsy, Progressive, 1 |
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Astrocytosis, Gliosis |
OMIM:601104 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Astrocytosis, Gliosis |
OMIM:203700 |
Atrial Septal Defect, Ostium Primum Type |
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Recurrent respiratory infections, Pulmonary artery dilatation |
ORPHA:99106 |
Charge Syndrome |
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Patent ductus arteriosus, Double outlet right ventricle, Downslanted palpebral fissures, Ptosis, ... |
OMIM:214800 |
Cardiac Valvular Dysplasia 1 |
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Pulmonary artery atresia, Left aortic arch with cervical origin of the right subclavian artery, A... |
OMIM:212093 |
Vascular Ehlers-Danlos Syndrome |
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Ascending tubular aorta aneurysm, Pneumothorax, Pulmonary artery aneurysm, Vascular dilatation, A... |
ORPHA:286 |
Alzahrani-Kuwahara Syndrome |
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Pulmonary artery sling, Persistent left superior vena cava, Microcephaly, Frontal bossing |
OMIM:619268 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Patent ductus arteriosus, Pulmonary artery dilatation, Frontal bossing, Upslanted palpebral fissu... |
OMIM:619534 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Double aortic arch, Bilateral superior vena cava with bridging vein, Pa... |
ORPHA:216694 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Patent ductus arteriosus, Primary microcephaly, Epicanthus, Broad eyebrow, Abnormality of the pul... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Primary microcephaly, Broad eyebrow, Abnormality of the pulmonary artery, Coarctation of aorta, P... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Patent ductus arteriosus, Horizontal eyebrow, Broad eyebrow, Coarctation of aorta, Pulmonary arte... |
ORPHA:2152 |
Cardiofaciocutaneous Syndrome 3 |
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OMIM:615279 |
Melorheostosis, Isolated |
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OMIM:155950 |