Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Poor wound healing, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after su... |
ORPHA:331 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... |
ORPHA:132 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage, Purpura |
OMIM:614514 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... |
OMIM:202400 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Sneddon Syndrome |
|
Cutis marmorata, Cerebral hemorrhage, Livedo reticularis, Livedo, Hypertension, Ischemic stroke, ... |
OMIM:182410 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... |
ORPHA:90064 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... |
ORPHA:99828 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation |
OMIM:116860 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Erythrocytosis, Familial, 1 |
|
Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension, Exertional dyspnea |
OMIM:133100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... |
OMIM:617397 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... |
ORPHA:94080 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... |
ORPHA:60041 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... |
ORPHA:280679 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ... |
ORPHA:449285 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... |
OMIM:277450 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive h... |
ORPHA:2414 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due ... |
OMIM:613561 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... |
OMIM:620300 |
Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure |
ORPHA:890 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:610655 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Dermatitis, Atopic |
|
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... |
ORPHA:2302 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory ... |
OMIM:610127 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... |
OMIM:245400 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatosplenomegaly, R... |
ORPHA:99931 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage, Respiratory failure... |
ORPHA:3226 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebral hemorrhage, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Acrocyanosis, Prolonged prothrombin time, M... |
ORPHA:49566 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apn... |
OMIM:608836 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Cyanosis, Liver abscess, Epistaxis, Myocardial infarction, Transient ischemic ... |
ORPHA:2038 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Poor wound healing, Joi... |
ORPHA:465 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Premature graying of hair, Hype... |
OMIM:300845 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Dyspnea, Pallor |
ORPHA:517 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Dyspnea, Pallor, Splenomegaly |
ORPHA:75563 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... |
OMIM:619057 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... |
ORPHA:169802 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Skin ulcer, Pallor, Cholelithia... |
ORPHA:848 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Sneddon Syndrome |
|
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Vascular skin abnormality |
ORPHA:820 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Fetal Gaucher Disease |
|
Hepatomegaly, Death in infancy, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage,... |
ORPHA:85212 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:619386 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Cyanosis, Abnormal coronary a... |
ORPHA:860 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... |
ORPHA:70587 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... |
OMIM:620278 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure |
OMIM:616794 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... |
OMIM:263300 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Hydrocephalus, Pallor |
ORPHA:163596 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus |
OMIM:618302 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure |
OMIM:618011 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... |
ORPHA:276621 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Buerger Disease |
|
Vasculitis, Acrocyanosis, Skin ulcer |
ORPHA:36258 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Poor wound healing, Prolonged bleeding... |
ORPHA:98879 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Stroke-like episode, Respiratory failure, Decreased liver function, Hyp... |
ORPHA:70472 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... |
ORPHA:1163 |
Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Aortic dissection, Prolonged QRS comple... |
ORPHA:90068 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Dilated cardiomyopathy, Respirat... |
OMIM:614299 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver ... |
OMIM:614922 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Erythema,... |
ORPHA:420741 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Pallor |
ORPHA:49827 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Abnormal pattern of respiration, Pallor |
ORPHA:29822 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, ... |
ORPHA:90051 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... |
ORPHA:36238 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Splenomegaly, Congestive h... |
ORPHA:33226 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertension, Respiratory failure, Cirrhosis, ... |
ORPHA:363400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Death in infancy, CNS foam cells, Bone-marrow foam c... |
OMIM:607625 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Splenomegaly, Skin ulcer, Rhiniti... |
ORPHA:507 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, High-output congestive heart fail... |
ORPHA:231222 |
Tricuspid Atresia |
|
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... |
ORPHA:1209 |
American Trypanosomiasis |
|
Hepatomegaly, Dyspnea, Splenomegaly, Congestive heart failure, Myocarditis, Cardiomyopathy, Pallo... |
ORPHA:3386 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respiratory failure, Intrauterine growth r... |
OMIM:609981 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased testicular size |
ORPHA:93950 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Central apnea, Respiratory insufficiency due to muscle weakness, Subdural hemorrhage, Respiratory... |
OMIM:618291 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Death in infancy, Hepatomegaly, Congestive heart failure, Respiratory failure, Arrhythmia, Intrau... |
ORPHA:1194 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Acute Interstitial Pneumonia |
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Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... |
ORPHA:29072 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Hydrocephalus, Bronchiectasi... |
ORPHA:244 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Hepatomegaly, Abnormal EKG, Intercostal retractions,... |
ORPHA:1329 |
Congenital Myopathy 21 With Early Respiratory Failure |
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Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation, Hypertr... |
OMIM:620326 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Vascular granular osmiophilic material... |
ORPHA:168486 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component... |
ORPHA:99104 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Respiratory distress, Redundant skin, Congestive heart failure, Hydrocephalus, Res... |
OMIM:616482 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Cutis marmorata, Moyamoya phenomenon |
ORPHA:401986 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, E... |
ORPHA:824 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Facial erythema |
ORPHA:284227 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short stature |
ORPHA:2776 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy, Hepatomegaly |
OMIM:610678 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor, Exertional dyspnea |
ORPHA:90033 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Tricuspid regurgitati... |
ORPHA:555874 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Cyanosis, Splenic rupture, Abnormal umbilical stump bleeding, Pro... |
ORPHA:335 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, ... |
OMIM:620157 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Intrauterine growth retardation, Cho... |
OMIM:266200 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Exertional dyspnea |
ORPHA:90037 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation |
OMIM:619483 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal ... |
OMIM:136760 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Cutis laxa, Death in childhood |
OMIM:309400 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Tachycardia, Atrial fibri... |
ORPHA:137675 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:90307 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre... |
OMIM:261680 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Respiratory insufficiency, Pallor, Arr... |
ORPHA:3099 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Poor wound healing, Cerebral hemorrhage, Prolonged prothrombin tim... |
ORPHA:244242 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Intermittent hype... |
ORPHA:348 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... |
OMIM:615512 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:171433 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... |
OMIM:256000 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Ventricular tachyca... |
ORPHA:159 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Hydrocephalus, Growth... |
OMIM:614886 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... |
ORPHA:542323 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Abnormality of the abd... |
ORPHA:2409 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta |
OMIM:601216 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Short stature |
OMIM:109120 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus |
ORPHA:93262 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short stature |
OMIM:156510 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Dyspnea, Jaundice, Splenomegaly, High-output congestive heart failure, Dilated car... |
ORPHA:231226 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature |
ORPHA:93945 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... |
ORPHA:352447 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,... |
ORPHA:199241 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, Fo... |
ORPHA:747 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Decreased liver function |
ORPHA:79327 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy, Respiratory failure |
ORPHA:609 |
Dravet Syndrome |
|
Cyanotic episode, Pallor |
ORPHA:33069 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency |
OMIM:615368 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Dyspnea, Splenomegaly, Hepat... |
ORPHA:464329 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Cryptorchidism, Short stature, Decreased testicular size |
ORPHA:85279 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Cough, Ra... |
ORPHA:3260 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Death in infancy, Stillbirth, Apnea |
OMIM:241500 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Respirato... |
ORPHA:308552 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia,... |
ORPHA:536545 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... |
OMIM:604320 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Propionic Acidemia |
|
Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis |
OMIM:606054 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Respiratory failure, Vasculitis, Petechiae |
ORPHA:83313 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:75564 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Erythema, Vasculitis, Urticaria, Acrocyan... |
ORPHA:343 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Redundant neck skin, Congestive heart failure, Hydrocephalus, Hea... |
ORPHA:3309 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Myocardial infarction, Prematurely aged appearance, Pulmona... |
ORPHA:3342 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Congestive heart failur... |
ORPHA:26791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Hypertrophi... |
OMIM:220110 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short stature |
ORPHA:261295 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arres... |
OMIM:619879 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Intrauterine growth retardation, Reduced number of intrahepatic bile... |
ORPHA:79284 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Dyspnea, Jaundice, Splenomegaly, High-output congestive heart failur... |
ORPHA:231214 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Pallor, Facial erythema |
ORPHA:439218 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonpr... |
ORPHA:60025 |
Vascular Hyalinosis |
|
Premature graying of hair, Vascular dilatation, Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla |
OMIM:246560 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Poor wound healing |
ORPHA:536516 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Death in childhood |
OMIM:246450 |
Mirage Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Aspiration pneumonia, Intrauter... |
OMIM:617053 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Myocardial infarction, Transient... |
ORPHA:183 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricul... |
ORPHA:99050 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation |
OMIM:616307 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... |
ORPHA:980 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Abnormal respiratory system physiolog... |
ORPHA:449280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardia... |
ORPHA:906 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Jaundice,... |
ORPHA:20 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Exertional dyspnea |
ORPHA:90036 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Tachypnea, Double outlet right ventricle, Heart murmur, Coarctation of aor... |
ORPHA:3426 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Emphysema, Premature graying of hair, Abnormal intrahepatic bile duct m... |
ORPHA:363618 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus |
ORPHA:207 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis |
OMIM:251000 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... |
ORPHA:98870 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Resp... |
OMIM:232300 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Hydrocephalus, Noncommu... |
ORPHA:666 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory insufficiency, Cardio... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Tay-Sachs Disease |
|
Aspiration, Cherry red spot of the macula, Pallor |
OMIM:272800 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1248 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Cryptorchidism, Umbilical he... |
ORPHA:915 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea... |
OMIM:261740 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... |
ORPHA:2299 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Erythema, Vasculitis, Cardiomyopathy, ... |
OMIM:225750 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right vent... |
ORPHA:3304 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Hydrocephalus |
OMIM:613603 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, S... |
ORPHA:97214 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:614862 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the ... |
OMIM:306955 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchiectasis, Recurr... |
OMIM:243700 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... |
ORPHA:679 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
Nephronophthisis 2 |
|
Hypertension, Respiratory failure, Pulmonary insufficiency, Respiratory insufficiency |
OMIM:602088 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurys... |
ORPHA:365 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concen... |
OMIM:610505 |
Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Hypoplastic... |
OMIM:185070 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Patent ductus arteriosus, Hypopnea, Respiratory failure, Brady... |
OMIM:617248 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Tachypnea, Hypertension, Pallor, Hypotension, Cough |
ORPHA:134 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Micrognathia, Facial edema, Splen... |
OMIM:616843 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Short stature |
ORPHA:2662 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla |
ORPHA:1529 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla |
OMIM:618737 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Restrictive ventilatory defect, Pallor |
OMIM:600462 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom... |
OMIM:618329 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Respiratory failure, Abnormality of the liver, Pro... |
ORPHA:88618 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Ectodermal dysplasia, Cardiomyopathy, P... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Ectodermal dysplasia, Cardiomyopathy, P... |
ORPHA:363958 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia... |
ORPHA:763 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... |
ORPHA:2326 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Retrognathia |
OMIM:608149 |
Cohen Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macrodontia of p... |
OMIM:216550 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Urt... |
ORPHA:394 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Frontorhiny |
|
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Basal encephalocele, Crani... |
ORPHA:391474 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:439822 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Malan Syndrome |
|
Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Retrognathia |
OMIM:614753 |
Meningioma |
|
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... |
ORPHA:2495 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... |
ORPHA:99827 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Respiratory failure, Stillbirth, H... |
OMIM:259720 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Hypoplasia of the maxilla, Micrognathia |
ORPHA:776 |
Aregenerative Anemia |
|
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor |
ORPHA:101096 |
Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Intrauterine growth retardation, Hepati... |
OMIM:311900 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:391428 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
Carpenter Syndrome 1 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Persistence of primary te... |
OMIM:201000 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia |
OMIM:616367 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla |
ORPHA:90653 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Hepatic steatosis |
ORPHA:445038 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:241310 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla |
ORPHA:2412 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy, Intrau... |
ORPHA:158687 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... |
ORPHA:2177 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... |
ORPHA:99125 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:1540 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Urticaria, Syncope, Pallor, Hypotension, Flushing |
ORPHA:98849 |
Listeriosis |
|
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Congestive heart failu... |
ORPHA:533 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Short stature, Micrognathia |
ORPHA:79113 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, A... |
ORPHA:90062 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy |
OMIM:607598 |
Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema |
ORPHA:293939 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Coa... |
ORPHA:1199 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Concentric hypertrophic cardiomyop... |
OMIM:252010 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla |
OMIM:137550 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Palpitations, Exertional dyspnea |
ORPHA:86839 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus |
OMIM:101600 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Right aortic arch, Interru... |
OMIM:617478 |
Greenberg Dysplasia |
|
Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of ... |
OMIM:215140 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Rhizomelia, Micrognathia |
OMIM:108721 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Short stature, Anemia, Growth delay, Delayed eruption of permanent ... |
OMIM:620370 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Atrioventricular block, Bradycardia |
OMIM:614407 |
Mohr Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central inciso... |
OMIM:252100 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Splenomegaly, Pulmonary artery stenosis, Hydrocephalus, Pallor, Chronic rhin... |
ORPHA:667 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor |
OMIM:609053 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus |
OMIM:123500 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy, Pal... |
ORPHA:2131 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Large placenta, Respiratory failure, Umbilical hernia, Intrauterine growth r... |
ORPHA:254528 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... |
ORPHA:31826 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Alg3-Cdg |
|
Neural tube defect, Decreased liver function, Coarctation of the descending aortic arch, Cardiomy... |
ORPHA:79321 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Chroni... |
OMIM:615636 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Tachypnea, Respiratory insufficiency, Cholest... |
OMIM:613658 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Dental maloccl... |
OMIM:257850 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Ch... |
OMIM:300534 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Heart mur... |
ORPHA:163979 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Intrauterine growth retardation, Respiratory failure |
OMIM:620327 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Heart murmur |
ORPHA:1867 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Crypt... |
ORPHA:950 |
Childhood Absence Epilepsy |
|
Pallor, Hyperventilation |
ORPHA:64280 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla |
OMIM:218000 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... |
ORPHA:740 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613805 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Microretrognathia, Short stature |
ORPHA:1307 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Mitral regurgitation |
OMIM:617809 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi... |
OMIM:170390 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azy... |
OMIM:616749 |
Infantile Krabbe Disease |
|
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Abnormal heart rate var... |
ORPHA:206436 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Cutis marmorata, Telangiectasia, Intracranial hemorrhage, Arteriovenous malforma... |
ORPHA:109 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Short stature |
OMIM:614261 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Hypoplasia of ... |
ORPHA:1775 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatocellu... |
OMIM:618278 |
Leigh Syndrome |
|
Congestive heart failure, Respiratory failure, Intrauterine growth retardation, Hypertrophic card... |
ORPHA:506 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea |
OMIM:619580 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ascending aorta hypoplasia, Neonatal asphyxia, Wheezing, Dyspnea,... |
ORPHA:141127 |
Aarskog-Scott Syndrome |
|
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Delayed puber... |
OMIM:305400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus |
OMIM:616538 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypop... |
ORPHA:1798 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Hydroceph... |
OMIM:610829 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla |
ORPHA:228396 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Pulmonary ... |
OMIM:233450 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Vascular skin abnormality, Cerebral hemorrhage |
ORPHA:221061 |
Cohen Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplasia of the zygomat... |
ORPHA:193 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay |
ORPHA:363417 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Umbilical hernia, Short stature |
ORPHA:2095 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failure, Hypovolemi... |
ORPHA:2912 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla |
OMIM:167730 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Marshall Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia o... |
ORPHA:560 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, Cryptorchidism, Hydroc... |
ORPHA:2166 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti... |
ORPHA:221 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Congestive heart failure, Respira... |
ORPHA:14 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag... |
ORPHA:90324 |
Medulloblastoma |
|
Elevated hepatic transaminase, Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Miscarriage, Large placenta, Pulmonary artery stenosis, Abnorm... |
ORPHA:96334 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Fucosidosis |
|
Hepatomegaly, Acrocyanosis, Vascular skin abnormality, Abnormality of the gallbladder |
ORPHA:349 |
Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Delayed eruption of teeth |
ORPHA:87 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch |
OMIM:616462 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Growth delay |
ORPHA:782 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... |
ORPHA:861 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Noncommunicating hydrocephalus, Aortic aneurysm, Hypertension, Respiratory ... |
ORPHA:805 |
Double Outlet Left Ventricle |
|
Cyanosis, Abnormal coronary artery course, Pulmonary artery stenosis, Patent ductus arteriosus, T... |
ORPHA:3427 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:245 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia |
ORPHA:496641 |
Arachnoid Cyst |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage |
ORPHA:2356 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Pneumonia, Asthma, Patent ductus arteriosus, Cholestasis, Hepatospleno... |
OMIM:619488 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental malocclusion, Umbi... |
OMIM:182212 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Umbilical h... |
ORPHA:2462 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Productive cough, Nonproductive cou... |
ORPHA:31204 |
Myasthenia Gravis |
|
Raynaud phenomenon, Dyspnea, Acrocyanosis, Hepatitis |
ORPHA:589 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Intraute... |
ORPHA:125 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla |
OMIM:619142 |
Cerebrofacioarticular Syndrome |
|
Hypoplasia of the maxilla, Lymphedema, Short stature, Micrognathia |
ORPHA:314679 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Postnatal growth retardation |
ORPHA:251061 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla |
ORPHA:481152 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism |
ORPHA:178303 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... |
ORPHA:37553 |
Tarp Syndrome |
|
Cyanosis, Apnea, Intrauterine growth retardation, Tetralogy of Fallot, Persistent left superior v... |
ORPHA:2886 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Respi... |
OMIM:300868 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Hypoplasia of the maxilla, A... |
ORPHA:192 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Hypoplasia of the maxilla, Postnatal growth retardation, Increased n... |
ORPHA:79345 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Stroke |
ORPHA:268943 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening |
OMIM:231070 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth ... |
OMIM:613803 |
Martsolf Syndrome 1 |
|
Hypoplasia of the maxilla, Cryptorchidism, Short stature, Micrognathia |
OMIM:212720 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... |
ORPHA:50814 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Respiratory insufficiency, Hepatosp... |
ORPHA:646 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Growth delay, Malar flattening |
OMIM:601390 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud pheno... |
ORPHA:48435 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Short stature, Short mandibular rami, Bilateral ... |
OMIM:602535 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Hydrocephalus, Erythema, Dilated cardiomy... |
ORPHA:2556 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Van Maldergem Syndrome 2 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Growth delay, Malar... |
OMIM:615546 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:105830 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Dyspnea, Myocarditis, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hypertensiv... |
ORPHA:544482 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Cowden Syndrome 5 |
|
Hydrocele testis, Hypoplasia of the maxilla, Micrognathia |
OMIM:615108 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... |
OMIM:613795 |
Rapp-Hodgkin Syndrome |
|
Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia |
OMIM:129400 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Pallor, Intrauterine growth r... |
OMIM:105650 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Costello Syndrome |
|
Redundant neck skin, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiom... |
OMIM:218040 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Hypoplasia of the maxilla, Micrognathia |
OMIM:309520 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size |
ORPHA:3044 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Medial calcification of large arteries, Transient ischemic attack... |
ORPHA:51608 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Corneal stromal edema, Retrog... |
OMIM:601812 |
Cowden Syndrome 6 |
|
Hydrocele testis, Hypoplasia of the maxilla, Micrognathia |
OMIM:615109 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Cowden Syndrome 1 |
|
Hydrocele testis, Hypoplasia of the maxilla, Lymphopenia, Micrognathia |
OMIM:158350 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Hematochezia |
ORPHA:329971 |
Aicardi Syndrome |
|
Hepatoblastoma, Prominence of the premaxilla, Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Severe postnatal growth retardation |
ORPHA:2399 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Patent ductus arteriosus, Hydrocephalus, Annular pancreas, Bruising susceptibility |
OMIM:227646 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Neoplasm of the liver, Palpitations, Pallor, Hypertensive cr... |
ORPHA:653 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Striae distensae, Prematurely aged appearance, ... |
ORPHA:287 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Short stature, Spina bifida, Micrognathia, Bilateral cryptorchidism, Cryptorchi... |
OMIM:180849 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Viss Syndrome |
|
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Emphysema, ... |
OMIM:619472 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cutis marmorata, Raynaud phenomenon, Calcification of the aorta, D... |
ORPHA:51 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... |
ORPHA:2588 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill... |
ORPHA:273 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Growth delay, Mand... |
ORPHA:2554 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... |
ORPHA:79404 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Cryptorchidism, Hypoplasia of the maxilla, Umbilical hernia |
ORPHA:1101 |
Microphthalmia With Limb Anomalies |
|
Short stature, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchid... |
ORPHA:1106 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, H... |
ORPHA:306542 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Myhre Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Hypertension, Respirat... |
OMIM:139210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla |
OMIM:106260 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... |
OMIM:166250 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Bruising susceptibility, Anemic pallor |
OMIM:227645 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Stroke-like episode, Intracra... |
ORPHA:86309 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Striae distensae |
ORPHA:199244 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia |
ORPHA:96129 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Hypertension, Acrocyanosis |
ORPHA:1764 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Micrognathia |
OMIM:259600 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Short stature, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardat... |
OMIM:213980 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilica... |
OMIM:304120 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Sinusitis, Xerostomia |
ORPHA:238468 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor |
OMIM:600901 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusor... |
OMIM:212093 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Short stature |
ORPHA:794 |
3Mc Syndrome 2 |
|
Postnatal growth retardation, Cryptorchidism, Prominence of the premaxilla |
OMIM:265050 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor |
OMIM:227650 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... |
OMIM:259900 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Cutis marmorata, Raynaud phenomenon, Heart block, Arterial occlusi... |
ORPHA:416 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardio... |
ORPHA:293987 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia |
ORPHA:647 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Short stature, Proportionate short stature |
OMIM:277600 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3rd percentile, I... |
OMIM:224690 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:209885 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, H... |
OMIM:610828 |
Peters-Plus Syndrome |
|
Rhizomelia, Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:261540 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Blepharochalasis, Umbilical hern... |
ORPHA:1299 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Bilateral cryptorchidism, Hypoplasia of the max... |
OMIM:211380 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Patent ductus arteriosus after birth at term, Resp... |
ORPHA:500150 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Umbilical hernia, Short stature, Proportionate short stature |
OMIM:608328 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Retrognathia |
OMIM:608156 |
Aicardi Syndrome |
|
Hepatoblastoma, Prominence of the premaxilla, Delayed puberty |
ORPHA:50 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pallor, Coarctation of aorta |
ORPHA:124 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Xerostomia, Malar flattening, Semilobar... |
OMIM:129900 |
Pitt-Hopkins Syndrome |
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Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Bartsocas-Papas Syndrome 1 |
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Bilateral cryptorchidism, Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia |
OMIM:263650 |
Ablepharon Macrostomia Syndrome |
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Hypoplasia of the maxilla, Umbilical hernia, Growth delay, Hypoplasia of the zygomatic bone |
ORPHA:920 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Mandibular prognathia, Short stature, Bilateral cryptorchidism, Hypoplasia of the maxilla, Malar ... |
OMIM:617402 |
Van Den Ende-Gupta Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Micrognathia |
OMIM:600920 |
Zttk Syndrome |
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Absent gallbladder, Short stature, Hypoplasia of the maxilla, Growth delay, Intrauterine growth r... |
OMIM:617140 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Pallor |
OMIM:253280 |
Goldberg-Shprintzen Syndrome |
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Hypoplasia of the maxilla |
OMIM:609460 |
Fraser Syndrome 2 |
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Respiratory failure |
OMIM:617666 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Prominence of the premaxilla, Oligohydramnios, Micrognathia |
OMIM:614437 |
Witteveen-Kolk Syndrome |
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Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:2636 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Short stature |
OMIM:101400 |
Acute Transverse Myelitis |
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Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Semilobar Holoprosencephaly |
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Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:220386 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Hypoplasia of the maxilla, Taurodontia |
OMIM:305100 |
Alobar Holoprosencephaly |
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Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93924 |
Branchiooculofacial Syndrome |
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Micrognathia, Postnatal growth retardation, Cryptorchidism, Cleft of chin, Branchial anomaly, Mal... |
OMIM:113620 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Xerostomia, Malar flattening |
OMIM:604292 |
Stickler Syndrome |
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Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanc... |
ORPHA:828 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical her... |
ORPHA:285 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Super... |
OMIM:614188 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Alobar holoprosencephaly, Holoprosencephaly, Malar flattening, Semilob... |
OMIM:157170 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation |
ORPHA:3404 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Recurrent pneumonia, Neural tube defect, Hepatoblastoma, Umbilical hernia, ... |
ORPHA:798 |
Coffin-Lowry Syndrome |
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Mitral regurgitation, Acrocyanosis, Cutis marmorata, Cutis laxa |
OMIM:303600 |
Floating-Harbor Syndrome |
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Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Carious t... |
ORPHA:2044 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Branchial anomal... |
OMIM:164210 |
Pmm2-Cdg |
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Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal subc... |
ORPHA:79318 |
Singleton-Merten Syndrome 1 |
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Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural effusion, Hypo... |
OMIM:182250 |
Primrose Syndrome |
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Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Delayed puber... |
OMIM:259050 |
Axenfeld-Rieger Syndrome, Type 1 |
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Hypoplasia of the maxilla |
OMIM:180500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |