Cardiomyopathy, Dilated, 1R |
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Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Left Ventricular Noncompaction 1 |
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Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Diamond-Blackfan Anemia 16 |
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Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... |
OMIM:211960 |
Atrial Standstill |
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Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Attrv122I Amyloidosis |
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Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Fetal Parvovirus Syndrome |
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Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Peripartum Cardiomyopathy |
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Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Neonatal Lupus Erythematosus |
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Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy... |
ORPHA:398124 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:1120 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger |
ORPHA:1759 |
Takayasu Arteritis |
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Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... |
ORPHA:3287 |
Transaldolase Deficiency |
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Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa... |
ORPHA:101028 |
Aminopterin/Methotrexate Embryofetopathy |
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Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
Long Qt Syndrome 15 |
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Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Frontal Encephalocele |
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Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Cardiomyopathy, Dilated, 1D |
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Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Hb Bart'S Hydrops Fetalis |
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Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hydrocephalus, Anemia, Pericarditis |
ORPHA:163596 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... |
OMIM:617021 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Meckel Syndrome, Type 4 |
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Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Meningocele, Anenc... |
OMIM:611134 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Cardiomyopathy, Dilated, 1S |
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Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Spina bifida, Ventricular septal defect |
ORPHA:2345 |
Cardiac Diverticulum |
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Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Congenitally Corrected Transposition Of The Great Arteries |
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Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Alpha-Thalassemia |
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Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... |
ORPHA:846 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
Pagod Syndrome |
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Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... |
ORPHA:991 |
Dohle Bodies And Leukemia |
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Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
Alg3-Cdg |
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Cardiomyopathy, Coarctation of the descending aortic arch, Macroglossia, Arthrogryposis multiplex... |
ORPHA:79321 |
Schisis Association |
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Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Subependymal Nodular Heterotopia |
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Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Hydrocephalus, Spina bifida |
OMIM:207950 |
Fliedner-Zweier Syndrome |
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Bicuspid aortic valve, Meningocele, Hypoplastic aortic arch, Ventricular septal defect |
OMIM:620511 |
Diamond-Blackfan Anemia 20 |
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Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Hydrocephalus, Spina bifida, Dextrocardia, Spina bifida occulta, Posterolateral... |
ORPHA:2437 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy |
ORPHA:588 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Joubert Syndrome 14 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Wildervanck Syndrome |
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Meningocele, Facial palsy |
ORPHA:3456 |
Triploidy |
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Hydrocephalus, Abnormal cardiac septum morphology, Macroglossia, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Heterotaxy, Visceral, 1, X-Linked |
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Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... |
OMIM:306955 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
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Facial hypotonia, Spina bifida |
OMIM:620439 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
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Spina bifida, Camptodactyly of finger |
ORPHA:957 |
Lateral Meningocele Syndrome |
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Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Aortic... |
OMIM:130720 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida, Scapular winging, Camptodactyly of finger |
ORPHA:1327 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... |
ORPHA:63260 |
Autosomal Recessive Spondylocostal Dysostosis |
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Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida occulta,... |
ORPHA:2311 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Mosaic Trisomy 9 |
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Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular... |
ORPHA:99776 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Cerebrocostomandibular Syndrome |
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Hydranencephaly, Myelomeningocele, Ventricular septal defect, Spina bifida, Meningocele |
ORPHA:1393 |
Meckel Syndrome, Type 2 |
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Meningocele, Anencephaly, Encephalocele |
OMIM:603194 |
Limb Body Wall Complex |
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Myelomeningocele, Abnormal heart morphology, Diastasis recti, Encephalocele, Short umbilical cord... |
ORPHA:2369 |
Lateral Meningocele Syndrome |
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Meningocele, Ventricular septal defect, Umbilical hernia |
ORPHA:2789 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Neurocutaneous Melanocytosis |
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Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Focal Dermal Hypoplasia |
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Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Vent... |
ORPHA:2092 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Tricuspid regurgita... |
OMIM:614437 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Phakomatosis Pigmentokeratotica |
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Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma, Spina bifida |
ORPHA:2874 |
Amish Lethal Microcephaly |
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Limb hypertonia, Spina bifida |
ORPHA:99742 |
Thrombocytopenia-Absent Radius Syndrome |
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Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... |
OMIM:274000 |
Marfan Syndrome |
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Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Skele... |
ORPHA:558 |
Fanconi Anemia |
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Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Leukopenia, Abnormal aortic m... |
ORPHA:84 |
Fibular Hemimelia |
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Abnormal heart morphology, Spina bifida, Thrombocytopenia |
ORPHA:93323 |
Iniencephaly |
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Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocele, Congenita... |
ORPHA:63259 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Hydranencephaly, Spina bifida, Camptodactyly of finger |
ORPHA:2839 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... |
ORPHA:508498 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... |
OMIM:175050 |
Trisomy 18 |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septa... |
ORPHA:3380 |
Chromosome 17P13.1 Deletion Syndrome |
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Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Hydrocephalus, Spina bifid... |
OMIM:613776 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele |
ORPHA:2031 |
Sirenomelia |
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Sirenomelia, Spina bifida |
ORPHA:3169 |
Lathosterolosis |
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Meningocele, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis |
ORPHA:46059 |
22Q11.2 Deletion Syndrome |
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Abnormal aortic arch morphology, Gastrointestinal hemorrhage, Hypertensive crisis, Umbilical hern... |
ORPHA:567 |
Acromelic Frontonasal Dysplasia |
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Meningocele, Encephalocele |
ORPHA:1827 |
Neu-Laxova Syndrome 1 |
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Hydranencephaly, Joint contracture of the hand, Small placenta, Short umbilical cord, Patent fora... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Atrial septal defect, Anen... |
OMIM:616546 |
Jacobsen Syndrome |
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Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Coarctation of aorta, S... |
ORPHA:2308 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Atrioventricular canal defect, Coarctation of aorta, Spina bifida, Torticollis, Unilateral facial... |
OMIM:619480 |
Trisomy 20P |
|
Spina bifida, Camptodactyly of finger, Umbilical hernia |
ORPHA:261318 |
Sacral Defect With Anterior Meningocele |
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Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma |
OMIM:109400 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Coarctation of aorta, Occipital meningocele |
OMIM:277170 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363958 |
Nail-Patella Syndrome |
|
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2671 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
OMIM:192350 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventr... |
OMIM:180849 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Neurofibromatosis, Type I |
|
Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Rhabdomyosarcoma, Hypert... |
OMIM:162200 |
Hallermann-Streiff Syndrome |
|
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Spina bifida |
OMIM:234100 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
Femoral-Facial Syndrome |
|
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Coarctatio... |
OMIM:134780 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Spina bifida |
ORPHA:3412 |
Arima Syndrome |
|
Anemia, Occipital meningocele, Hypertension |
OMIM:243910 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Campomelic Dysplasia |
|
Spinal dysraphism, Abnormal heart morphology, Contracture of the distal interphalangeal joint of ... |
OMIM:114290 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Flexion contracture of finger |
ORPHA:1010 |
Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Umbilical hernia, Elbow contracture, Hydrocephalus, Atrial septal defect, Spina bifid... |
OMIM:304120 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
OMIM:267750 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Exstrophy-Epispadias Complex |
|
Abnormal heart morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
Holoprosencephaly 9 |
|
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow flexion contracture, Occipital meningocele |
OMIM:276820 |