Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... |
OMIM:616373 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... |
OMIM:616371 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:178550 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... |
OMIM:619611 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defec... |
ORPHA:210136 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Epistaxis, Restrictive ventilatory defect, Menorrhagia, Pulmonary fibrosis, Br... |
OMIM:614073 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... |
ORPHA:220402 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Cough, Decreased DLCO... |
OMIM:614742 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, Heart murmur, ... |
ORPHA:99931 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... |
ORPHA:90060 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism |
ORPHA:3325 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe... |
ORPHA:79128 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Restrictive ventilatory defect, Pulmonary fibrosis |
OMIM:615704 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... |
ORPHA:81 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... |
ORPHA:1163 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ... |
ORPHA:250994 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Niemann-Pick Disease, Type B |
|
Decreased DLCO, Dyspnea, Abnormal pulmonary interstitial morphology, Recurrent respiratory infect... |
OMIM:607616 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis |
ORPHA:52047 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Myocardial infarction, Dyspnea, Wheezing, Respiratory tract infection... |
ORPHA:60033 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial han... |
OMIM:175700 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis, Portal hypertension |
OMIM:620365 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... |
ORPHA:178320 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Restrictive ventilatory defect, Cardiomyopathy,... |
OMIM:203300 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Restrictive ventilatory defect, Pulmonary fibrosis |
OMIM:619767 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pulmonary fibrosis |
OMIM:614743 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis |
OMIM:618394 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cou... |
ORPHA:60025 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Dyspnea, Myocarditis, Abnorma... |
ORPHA:809 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary fibrosis, Pulmonary arte... |
ORPHA:220393 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiecta... |
OMIM:618986 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615504 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Purpura, Pulmonary embolism |
OMIM:612304 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... |
ORPHA:70588 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... |
ORPHA:2902 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abnormal pulmonary interstitial morpholog... |
ORPHA:99745 |
Felty Syndrome |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneum... |
ORPHA:47612 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis |
OMIM:611926 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Hypogonadism |
ORPHA:141333 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnormal pulmonary i... |
OMIM:615486 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Pulmonary fibrosis, Myocardial infarction |
ORPHA:457240 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurr... |
OMIM:620233 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... |
ORPHA:420741 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolitis obliterans organ... |
OMIM:615518 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce... |
OMIM:613330 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Mitral valve prolapse, Azoospermia, Cubitus valgus... |
ORPHA:2183 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Cardiomegaly, Hydrocephalus, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Recurre... |
OMIM:613101 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly |
OMIM:602501 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Raynaud phenomenon, Tachypnea, Telangiectasia, Pulmonary fibrosis |
OMIM:615934 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul... |
ORPHA:199241 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Hypertension, Mitral regurgitatio... |
OMIM:230800 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... |
ORPHA:97287 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Mitral valve ... |
OMIM:612561 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... |
OMIM:610333 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology, St... |
OMIM:276950 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc... |
ORPHA:83473 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... |
OMIM:106700 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... |
ORPHA:2038 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Small hand |
OMIM:300884 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septa... |
OMIM:220210 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Cough |
OMIM:619013 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent... |
ORPHA:900 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Portal hypertension, Pulmonary fibrosis, Cough, Recurrent aspir... |
ORPHA:79124 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Pulmonary fibrosis |
OMIM:619510 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Pulmonary fibrosis |
OMIM:127550 |
Systemic Sclerosis |
|
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My... |
ORPHA:90291 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Dextrocardia, Single transverse palmar crease, Spina bifida, Myelomeningocele, ... |
ORPHA:2437 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... |
OMIM:615344 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis |
OMIM:618935 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Clinodactyly, Hypoplastic female ext... |
OMIM:618577 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti... |
OMIM:181000 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Diencephalic Syndrome |
|
Large hands, Long penis, Hydrocephalus |
ORPHA:1672 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary fibrosis, Respiratory insufficiency |
OMIM:607625 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped e... |
OMIM:615630 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... |
OMIM:611134 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Acalvaria |
|
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pleural effusion, Recurrent lowe... |
OMIM:619644 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Metaphyseal irregularity |
OMIM:269920 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Bone Marrow Failure Syndrome 5 |
|
Pulmonary fibrosis |
OMIM:618165 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept... |
ORPHA:1335 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav... |
ORPHA:75249 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... |
ORPHA:99105 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnorma... |
ORPHA:53 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Pulmonic stenosis, Hypertrophic cardiomy... |
ORPHA:2701 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary interstitial morpho... |
ORPHA:206569 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Cardiomyopathy, Pulmonary fib... |
ORPHA:79430 |
46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Erdheim-Chester Disease |
|
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... |
ORPHA:35687 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul... |
OMIM:618278 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Decreased DLCO, Pulmonary fibrosis |
OMIM:613990 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Single transverse palmar crease, Supernumerary nipple, Rocker bottom f... |
OMIM:619951 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Radioulnar ... |
ORPHA:171839 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Dy... |
ORPHA:85443 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Pulmon... |
ORPHA:29207 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t... |
ORPHA:2635 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Thrombocytopenia... |
OMIM:617053 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... |
ORPHA:1908 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, ... |
OMIM:612651 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malfo... |
OMIM:147800 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen, Slender long bone, Micropenis, Br... |
OMIM:602361 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defect,... |
ORPHA:7 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Postaxial hand polydactyly, Hydrocephalu... |
ORPHA:2075 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest... |
ORPHA:747 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Thanatophoric Dysplasia |
|
Ventriculomegaly, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia,... |
ORPHA:2655 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Hydrocephalus, Dilated cardiomyopa... |
ORPHA:398124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Abnormal metap... |
ORPHA:93274 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Overlapping toe, Pericardial effusion, Clinodactyly, Hydrocephal... |
OMIM:617822 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly, Decrease... |
OMIM:616222 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Hydranencephaly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, A... |
ORPHA:2839 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Pulmonary fibrosis |
OMIM:613989 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism... |
ORPHA:1865 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, ... |
ORPHA:3376 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb |
ORPHA:2181 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
C1Q Deficiency 2 |
|
Vasculitis in the skin, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis |
OMIM:620321 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Postaxial hand polydactyly, Aortic valve stenosis, Dandy... |
OMIM:220220 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty... |
OMIM:617866 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... |
ORPHA:228116 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, Hypoplastic ... |
OMIM:260660 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Diaphyseal sclerosis, Hepatosplenomega... |
OMIM:259710 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Overlap Myositis |
|
Raynaud phenomenon, Pulmonary arterial hypertension, Hypertension, Abnormal pulmonary interstitia... |
ORPHA:206572 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand poly... |
OMIM:314390 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular... |
OMIM:264480 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Recurrent pneumonia, Pulmonary fibrosis |
OMIM:608233 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Gastrointestinal telangiectasia, Pulmonary fibrosis, Retinal telangiectasia |
OMIM:612199 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Micropenis,... |
ORPHA:95699 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Abs... |
OMIM:300514 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Ne... |
ORPHA:2169 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Oligozoospe... |
ORPHA:8 |
Bresek Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Neonatal death, Decreased testicular size |
ORPHA:85284 |
Gorlin Syndrome |
|
Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Hydrocephalus, Brachy... |
ORPHA:377 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pulmonary fibrosis |
OMIM:224230 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Hypertrop... |
OMIM:612938 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla... |
ORPHA:2969 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Hydrocephalus |
ORPHA:1516 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Thromb... |
OMIM:227646 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Recurrent upper respirato... |
OMIM:615952 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Cryptorchidism, Short toe, Talipes equinovarus, HbH hemoglobin |
ORPHA:98791 |
Trisomy 1Q |
|
Small scrotum, Arachnodactyly, Ventricular septal defect, Toe syndactyly, Camptodactyly of finger... |
ORPHA:261344 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:618174 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr... |
OMIM:224400 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Delayed pubic bone o... |
OMIM:618162 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, Short toe, Hyd... |
OMIM:269860 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... |
OMIM:207410 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, H... |
OMIM:614576 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Patent... |
ORPHA:3092 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism,... |
ORPHA:1926 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Abnormal reproductive system morphology, Abnormality of... |
ORPHA:1666 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology |
OMIM:617050 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V... |
OMIM:616362 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Femur fracture, Splenomegaly, Hydrocephalus, Flared metaphysis, Coxa vara, Anemia, ... |
OMIM:259700 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly |
ORPHA:1914 |
Edinburgh Malformation Syndrome |
|
Long fingers, Hydrocephalus, Slender finger, Ulnar deviation of finger |
ORPHA:1895 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Hypospadias, Short hall... |
ORPHA:90652 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Metaphyseal sclerosis, Metaphyseal cho... |
OMIM:260400 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Subcutaneous hemorrhage, Pulmonary embolism |
ORPHA:743 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... |
ORPHA:231226 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism |
ORPHA:745 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Adducted thumb |
ORPHA:275543 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Bruising susceptibility, Gingival bleeding, Abnormal pulmonary i... |
ORPHA:77259 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Ventricular s... |
ORPHA:163979 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans |
OMIM:617241 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Griscelli Syndrome |
|
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Lymphadenopathy, Leukopen... |
ORPHA:381 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Thrombocytopenia |
ORPHA:1237 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation |
OMIM:310400 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... |
ORPHA:231214 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovaginal fistula, Ol... |
ORPHA:3016 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Abnormal pleura morphology, Heart blo... |
ORPHA:797 |
Gaucher Disease |
|
Abnormal bleeding, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Gingiva... |
ORPHA:355 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Muenke Syndrome |
|
Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis |
ORPHA:53271 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of t... |
OMIM:306955 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... |
ORPHA:2072 |
Trisomy 8P |
|
Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, A... |
ORPHA:264450 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu... |
ORPHA:275766 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Postaxial hand polydact... |
OMIM:612284 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Abnormality of the uterus, Triphalangeal thumb, Atrial sep... |
ORPHA:84 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Rhombencephalosynapsis |
|
Finger syndactyly, Hydrocephalus, Polydactyly, Abnormality of the uterus, Complete duplication of... |
ORPHA:59315 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial septal defect, Ventriculo... |
OMIM:603387 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se... |
ORPHA:124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holop... |
ORPHA:77298 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dyspl... |
OMIM:612582 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Hydrocephalus, Camptodactyly, Atrial septal defect, Dandy-Walker malformation |
OMIM:614846 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom... |
ORPHA:60040 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal pulmonary inters... |
ORPHA:781 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Abnormal cardiac... |
ORPHA:250989 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology |
ORPHA:93262 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen... |
OMIM:101200 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Hydrolethalus |
|
Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abnormal fall... |
ORPHA:2189 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... |
OMIM:154400 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Hydrocephalus |
OMIM:300558 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Sh... |
OMIM:101800 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... |
OMIM:609757 |
Emanuel Syndrome |
|
Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Cryp... |
OMIM:609029 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Prominent fingertip pads, Sandal gap, Hydrocephalus, Dysplastic tricuspid valve, Small hand, Mitr... |
OMIM:612863 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Vent... |
OMIM:272200 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... |
OMIM:613776 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... |
OMIM:614219 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... |
OMIM:100800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Tapered finger, Coxa valga, Cryptorchidism, Clinodactyly,... |
OMIM:301040 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Hypospadias, Sandal gap, Abn... |
ORPHA:235 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, Abnormal hip bone morphology, Hypochro... |
ORPHA:2720 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Splenomegaly, Leukocytosis, Hydroce... |
OMIM:259720 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Mitral valve prolapse, Cubi... |
OMIM:104350 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormal external genitalia, Hydrocephalus, Abnormal heart morphology, Hydrocele ... |
ORPHA:314588 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Postaxial polydactyly |
OMIM:219730 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Bowing of the long bones, True hermaphroditism, Pancreatic fibro... |
ORPHA:564 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi... |
OMIM:249000 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal bleeding, Vasculitis, Pulmonary fibrosis, Bruising susceptibility |
ORPHA:3261 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Acetabular dysplasia, Ventricu... |
OMIM:619833 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Sandal gap, Brachydactyly |
ORPHA:2180 |
Emanuel Syndrome |
|
Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Cryp... |
ORPHA:96170 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Hypospadias, Single transverse palmar crease, Broad hallux, Cryptorchidism, Hydroceph... |
OMIM:305450 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Small hand, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Dandy-Walk... |
ORPHA:459061 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga |
OMIM:109120 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro... |
ORPHA:90065 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal fi... |
ORPHA:1812 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Abnormal palmar dermatoglyphics, Arachnodactyly, Tapered finger, ... |
ORPHA:1600 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... |
OMIM:304120 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Hydr... |
ORPHA:2166 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-... |
OMIM:107480 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph... |
ORPHA:847 |
H Syndrome |
|
Hallux valgus, Microcytic anemia, Hydrocephalus, Hepatosplenomegaly, Lymphadenopathy, Azoospermia... |
ORPHA:168569 |
Trisomy 17P |
|
Hypoplasia of penis, Tapered finger, Hydrocephalus, Hypoplastic left heart, Clinodactyly of the 5... |
ORPHA:261290 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Hydrocephalus, Abnormality of the male genitalia, Cholelithiasis, Double ou... |
OMIM:614886 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Hypogonadism, Micropenis, D... |
ORPHA:500055 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Clino... |
OMIM:147791 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger... |
OMIM:616007 |
B4Galt1-Cdg |
|
Splenomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, 2-3 toe syndactyly, A... |
ORPHA:401973 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus... |
OMIM:257300 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Metatarsus adductus, Splenomegaly, Hydrocephalus, Genu valgum, C... |
OMIM:253220 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, Hydrocephalus, He... |
OMIM:607014 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Congenital Sialidosis Type 2 |
|
Abnormal heart morphology, Polydactyly, Hydrocephalus, Hepatosplenomegaly |
ORPHA:93400 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Split hand, Abnormal aortic valve m... |
ORPHA:579 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hydrocephalus, Broad hallux phalanx, Broad thumb |
ORPHA:585 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossi... |
OMIM:109400 |
Dyskeratosis Congenita, X-Linked |
|
Restrictive ventilatory defect, Pulmonary fibrosis |
OMIM:305000 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormal pelvic girdle bone morphology, Abnormal morphology of female ... |
ORPHA:1834 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus |
ORPHA:1861 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac... |
OMIM:619320 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Dand... |
OMIM:614424 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Abnormalit... |
ORPHA:93473 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth |
OMIM:617667 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Short toe, Hydrocephalus, Abnormal heart morphology, Delayed ossification of carp... |
OMIM:239300 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Lowry-Maclean Syndrome |
|
Hypospadias, Single transverse palmar crease, Bilateral cryptorchidism, Hydrocephalus, Atrioventr... |
ORPHA:2409 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Splenomegaly, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum,... |
OMIM:253200 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Recurrent respirator... |
ORPHA:77261 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Aplastic ... |
ORPHA:2658 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypopl... |
ORPHA:2369 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Sex... |
OMIM:114290 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... |
OMIM:270400 |
Pontocerebellar Hypoplasia, Type 7 |
|
Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, ... |
OMIM:614969 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... |
OMIM:613001 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Single transverse palmar crease, Ovotes... |
OMIM:309801 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing,... |
OMIM:618188 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Split hand, Hepatosplenomegaly |
OMIM:309900 |
Whipple Disease |
|
Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Hydrocephalus, Anemia |
ORPHA:3452 |
Desmosterolosis |
|
Micromelia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Anomalous pulmonary venous return, ... |
ORPHA:35107 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly |
OMIM:620156 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Ov... |
ORPHA:87 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Mitral ... |
OMIM:182212 |
Fusariosis |
|
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bronchiectasi... |
ORPHA:228119 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, 2-3 toe syndactyly, P... |
OMIM:300960 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph... |
OMIM:618458 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Dextrocardia, Short hallux, Aqueductal stenosis, Cryptorchidism, Sho... |
OMIM:620305 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Wa... |
ORPHA:899 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Hydrocephalus, Palmoplantar cutis laxa, Tibial bowing, Femoral bowing, Uterine leiomy... |
OMIM:616482 |
Joubert Syndrome |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:475 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Ovarian neoplasm |
ORPHA:65285 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lym... |
ORPHA:228123 |
Icf Syndrome |
|
Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils |
ORPHA:2268 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinovarus, Clinodactyly of ... |
ORPHA:3309 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Bone marrow hypocellul... |
OMIM:614083 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax... |
ORPHA:538 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Primary Sjögren Syndrome |
|
Purpura, Lymphocytic interstitial pneumonia, Bronchitis, Raynaud phenomenon, Nonproductive cough,... |
ORPHA:289390 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Hy... |
ORPHA:168577 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Dextrocardia, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:220493 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ... |
ORPHA:2306 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Nonproductive cou... |
ORPHA:319213 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Aymé-Gripp Syndrome |
|
Pericarditis, Rocker bottom foot, Tapered finger, Pericardial effusion, Cryptorchidism, Hydroceph... |
ORPHA:1272 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... |
ORPHA:2462 |
Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia |
OMIM:612301 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Total anomalou... |
OMIM:602398 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... |
ORPHA:91350 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Erlenmeyer flask def... |
OMIM:618476 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Deep palmar cre... |
ORPHA:505248 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Genu... |
ORPHA:1340 |
Orofaciodigital Syndrome I |
|
Syndactyly, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Ovarian... |
OMIM:311200 |
Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis |
ORPHA:3337 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... |
OMIM:613658 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Marshall-Smith Syndrome |
|
Hallux valgus, Prominent fingertip pads, Ventricular septal defect, Bullet-shaped middle phalange... |
OMIM:602535 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Ventriculomegaly |
OMIM:613603 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Palmoplantar keratoderma... |
ORPHA:1555 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Pulmonary embolism |
ORPHA:567548 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:2162 |
Agammaglobulinemia, X-Linked |
|
Wheezing, Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Recurrent sinusitis, Rec... |
OMIM:300755 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Accessory spleen, S... |
OMIM:268300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Hydrocephalus, Vaginal atresia, Aplasia/Hypoplasia involving the pelvis |
ORPHA:3301 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Overlapping toe, Hydrocephalus, Hypoplastic labia majora, Palmoplanta... |
OMIM:123790 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... |
ORPHA:70591 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia... |
ORPHA:536467 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus, Anemia |
OMIM:619377 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... |
ORPHA:314585 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:2318 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Bronchiolitis obliterans organizing pneumonia |
OMIM:619802 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Arachnodactyly, ... |
ORPHA:2461 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the radius, Hip d... |
ORPHA:3412 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Splenomegaly, Hydrocephalus, Deep palmar crease, Clinoda... |
OMIM:115150 |
Thoracoabdominal Syndrome |
|
Hypospadias, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Oeis Complex |
|
Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female... |
OMIM:258040 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Recurrent pharyngitis, Abnormal ... |
ORPHA:2331 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Hypoparathyroidism, Hy... |
ORPHA:567 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... |
OMIM:608091 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Leukemia |
ORPHA:99867 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Atrial septal defect, Accessory spleen, Hypospadias, Pseudoepiph... |
OMIM:194190 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Aplasia of the vagina, Aplasia... |
ORPHA:457284 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Lymph... |
ORPHA:667 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Hydrocephalus |
OMIM:612940 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... |
OMIM:305600 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, ... |
ORPHA:2322 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Long fin... |
ORPHA:96121 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Pulmonary interstitial lymphocyte infiltration, Recurrent respiratory infections |
OMIM:606367 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele |
OMIM:130720 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Ventricular septal defect, Hydrocephalus, Osteopathia striata, Spina bifida occul... |
OMIM:300373 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decr... |
ORPHA:363958 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Foot acroosteolysis, Osteo... |
OMIM:102500 |
Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly, Tapered finger |
ORPHA:2836 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... |
ORPHA:365 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Aqueductal stenosis, Cryptorchidism, Long fingers, Hydrocephalus, Bil... |
OMIM:619512 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Mitral stenosis, Hypospadias, Ventricular se... |
ORPHA:955 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contr... |
OMIM:620351 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Ventriculomegaly |
ORPHA:77301 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly |
ORPHA:220497 |
Basal Cell Nevus Syndrome 2 |
|
Palmar pits, Hydrocephalus |
OMIM:620343 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion |
ORPHA:567546 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hypospadias, Cryptorchidism, Shor... |
OMIM:312870 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Hypoplastic... |
OMIM:273395 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Goodpasture Syndrome |
|
Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ventilatory d... |
OMIM:233450 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Oligozoospermia, Abnormal sperm morp... |
ORPHA:330015 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus... |
OMIM:605627 |
Joubert Syndrome With Hepatic Defect |
|
Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Occipital encephalocele |
ORPHA:1454 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Narrow iliac wing |
OMIM:616294 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial... |
OMIM:218600 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Abnormal metaphysis morphology, Bowing of the l... |
ORPHA:2050 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... |
ORPHA:666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Bilobate gallbladder, Single transverse palmar crease, Limited elbow mo... |
OMIM:261540 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Hydrocephalus, G... |
ORPHA:581 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Crypto... |
OMIM:208150 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventricle dilatation, Normal pr... |
ORPHA:300570 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Hypospadias, Cryptorchidism, Myelomeningocele, Ap... |
OMIM:219000 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered finger, Cryptorchidis... |
ORPHA:261337 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb |
OMIM:614643 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Pheochromoc... |
OMIM:162200 |
Brucellosis |
|
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Myocarditis, Pulmon... |
ORPHA:1304 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Testicular neoplasm, Metatars... |
ORPHA:744 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Atelec... |
ORPHA:73263 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Vasculitis, Abnormal pulmonary interstitial morphology, Vasculitis in the skin, Pleu... |
ORPHA:50918 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Hydrocephalus, Neonatal death, Long hallux, Brachydactyly |
OMIM:259775 |
Peters Plus Syndrome |
|
Toe syndactyly, Hypospadias, Rhizomelia, Micromelia, Cryptorchidism, Short toe, Bicuspid pulmonar... |
ORPHA:709 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Respiratory failure requiring assisted ventilation, Progressive pulmonary func... |
ORPHA:77293 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Foot polydactyly, Short palm |
ORPHA:268249 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Hypoplastic scapulae, Dextrocardia, Cryptorchidism, Hydrocephal... |
ORPHA:3310 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Syndactyly, Small scrotum, Absent nipple, Bicuspid aortic valve, Cryptorchi... |
OMIM:612289 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect... |
OMIM:147920 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly |
ORPHA:228308 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... |
ORPHA:1780 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... |
OMIM:236670 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Dilated cardiomyo... |
ORPHA:2556 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Neutropen... |
ORPHA:79282 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale... |
OMIM:607872 |
Tenorio Syndrome |
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Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Plasminogen Deficiency, Type I |
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Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Hypospadias, Secundum atrial septal defect, Cryptorchidism,... |
OMIM:264090 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Slender long bone, Hydrocephalus |
OMIM:618590 |
Developmental And Epileptic Encephalopathy 49 |
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Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
Autoimmune Polyendocrinopathy Type 4 |
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Abnormal pulmonary interstitial morphology |
ORPHA:227990 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Narrow iliac wing, Anemia |
ORPHA:3042 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Cryptococcosis |
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Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Leukocytosis, Hydrocephalus, Genu valgum, Hypoplasia of the ovary, Micropenis, Decreased testicul... |
OMIM:619321 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... |
OMIM:613177 |
Autoimmune Polyendocrinopathy Type 3 |
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Abnormal pulmonary interstitial morphology |
ORPHA:227982 |
Loeys-Dietz Syndrome 1 |
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Arachnodactyly, Bicuspid aortic valve, Postaxial hand polydactyly, Bicuspid pulmonary valve, Hydr... |
OMIM:609192 |
Relapsing Polychondritis |
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Pericarditis, Dyspnea, Myocarditis, Atelectasis, Large vessel vasculitis, Cough, Abnormal pattern... |
ORPHA:728 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Anteri... |
OMIM:619841 |
Loeys-Dietz Syndrome 2 |
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Syndactyly, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hy... |
OMIM:610168 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
Cerebral Visual Impairment |
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Hydrocephalus |
ORPHA:447788 |
Chronic Graft Versus Host Disease |
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Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Bronchiolitis obliterans, Cough, Pleural effusio... |
ORPHA:99921 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Arachnoid Cyst |
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Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
Dural Sinus Malformation |
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Myelopathy, Hydrocephalus |
ORPHA:97339 |
Cockayne Syndrome A |
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Hip contracture, Splenomegaly, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Squa... |
OMIM:216400 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Pancytopenia, Genu valgum, Hepatosplenomegaly, Cortical thickening o... |
ORPHA:309282 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Cardiomegaly, Hydrocephalus, Polycystic ovaries |
ORPHA:137675 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation |
OMIM:619575 |
Neurofibromatosis Type 1 |
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Precocious puberty, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia, Genu valgum, Sle... |
ORPHA:636 |
Rabin-Pappas Syndrome |
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Hydrocephalus |
OMIM:620155 |
Overhydrated Hereditary Stomatocytosis |
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Pulmonary embolism |
OMIM:185000 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cardiomyopathy, Hydrocephalus |
ORPHA:157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... |
ORPHA:580 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Abnormal heart morphology, M... |
ORPHA:363700 |
Costello Syndrome |
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Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Hydro... |
OMIM:218040 |
Alexander Disease |
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Precocious puberty, Hydrocephalus, Aqueductal stenosis |
ORPHA:58 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bifid scrotum, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Single transverse p... |
OMIM:619475 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Meningioma |
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Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... |
ORPHA:2495 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Hypospadias, Hypogonadotropic hypogonadism, Decreased respo... |
ORPHA:3455 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Cockayne Syndrome B |
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Splenomegaly, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, N... |
OMIM:133540 |
Knobloch Syndrome |
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Occipital encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus |
ORPHA:1064 |
Coffin-Siris Syndrome 12 |
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Hypospadias, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Noncommunicating hydro... |
OMIM:619325 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
Semilobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h... |
ORPHA:93924 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly |
OMIM:617011 |
Medulloblastoma |
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Hydrocephalus |
ORPHA:616 |
Tuberous Sclerosis Complex |
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Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, ... |
ORPHA:805 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Hydrocephalus |
ORPHA:220295 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Micropenis, Arachnodactyly, Ventriculomegaly |
ORPHA:457359 |
Sturge-Weber Syndrome |
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Hydrocephalus |
ORPHA:3205 |
Split Cord Malformation |
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Hypospadias, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomeningo... |
ORPHA:573278 |
Multiple Osteochondromas |
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Pneumothorax, Hemothorax |
ORPHA:321 |
Oculocerebrorenal Syndrome Of Lowe |
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Atelectasis, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:534 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus |
ORPHA:637 |
Digeorge Syndrome |
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Atelectasis, Asthma, Patent ductus arteriosus, Chronic pulmonary obstruction, Recurrent pneumonia... |
OMIM:188400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Hydrocephalus |
OMIM:175780 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Partial duplication of thumb phalanx, Hydroce... |
OMIM:164210 |
Familial Isolated Dilated Cardiomyopathy |
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Dilated cardiomyopathy, Abnormality of neutrophils, Palmoplantar keratoderma |
ORPHA:154 |
Cardiomyopathy, Dilated, 1V |
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Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Alzheimer Disease 4 |
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OMIM:606889 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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ORPHA:1020 |