Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
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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Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
Attrv122I Amyloidosis |
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Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Fetal Parvovirus Syndrome |
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Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... |
ORPHA:1120 |
Thoraco-Abdominal Enteric Duplication |
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Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Takayasu Arteritis |
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Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Neonatal Lupus Erythematosus |
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Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Splenomegaly... |
ORPHA:398124 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Transaldolase Deficiency |
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Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, Coarctation of aorta, Atri... |
ORPHA:101028 |
Hb Bart'S Hydrops Fetalis |
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Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart failure, Anemia |
ORPHA:163596 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Cardiomyopathy, Dilated, 1D |
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Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Meckel Syndrome, Type 4 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Abnormality of the spl... |
ORPHA:991 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect |
OMIM:223350 |
Alg3-Cdg |
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Coarctation of the descending aortic arch, Macroglossia, Neural tube defect, Cardiomyopathy, Arth... |
ORPHA:79321 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Schisis Association |
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Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida |
ORPHA:63862 |
Diamond-Blackfan Anemia 20 |
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Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Chiari Malformation Type Ii |
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Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
Czeizel-Losonci Syndrome |
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Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Muscle-Eye-Brain Disease |
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Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
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 |
|
Meningocele, Facial palsy |
ORPHA:3456 |
Triploidy |
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Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:3376 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial se... |
OMIM:306955 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Lateral Meningocele Syndrome |
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Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningoce... |
OMIM:130720 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Craniorachischisis |
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Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Scapular winging, Camptodactyly of finger, Spina bifida |
ORPHA:1327 |
Autosomal Recessive Spondylocostal Dysostosis |
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Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous... |
ORPHA:2311 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Asplenia,... |
ORPHA:99776 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Congenital diaphragmatic her... |
ORPHA:2092 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Rhabdomyosarcoma, Arrhythmia, Spina bifida |
ORPHA:2874 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Spina bifida, Shoulder muscle hypoplasia, Thrombocytopen... |
OMIM:274000 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Fibular Hemimelia |
|
Thrombocytopenia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Hydrocephalus, Patent ductus arteriosus... |
ORPHA:84 |
Iniencephaly |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydrocephalus, An... |
ORPHA:63259 |
Amish Lethal Microcephaly |
|
Spina bifida, Limb hypertonia |
ORPHA:99742 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida |
ORPHA:2839 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Ventricular septal defect, Abnormal pulmonary v... |
ORPHA:567 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... |
ORPHA:3380 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola... |
OMIM:175050 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... |
OMIM:613776 |
Lathosterolosis |
|
Thrombocytopenia, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ... |
ORPHA:558 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pals... |
OMIM:619480 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypoplastic left heart, Aortic val... |
ORPHA:2308 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meni... |
OMIM:616546 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Trisomy 20P |
|
Umbilical hernia, Camptodactyly of finger, Spina bifida |
ORPHA:261318 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart, Coarctation of aorta |
OMIM:277170 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Nail-Patella Syndrome |
|
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... |
OMIM:161200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363958 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Arthrogryposis mu... |
ORPHA:2671 |
Neurofibromatosis, Type I |
|
Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery st... |
OMIM:162200 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Flexion cont... |
OMIM:180849 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia |
OMIM:234100 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Arima Syndrome |
|
Occipital meningocele, Hypertension, Anemia |
OMIM:243910 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Campomelic Dysplasia |
|
Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Abno... |
OMIM:114290 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Meningocele |
ORPHA:1010 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Distal... |
ORPHA:573278 |
Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical herni... |
OMIM:304120 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Elbow flexion contracture |
OMIM:276820 |