| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions |
OMIM:618830 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis |
OMIM:275300 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... |
ORPHA:60033 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Livedo, Recurrent lower respiratory... |
OMIM:615139 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... |
OMIM:618276 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Hand tremor, Leukoencephalopathy, Depression, Lateral ventricle dilat... |
OMIM:615889 |
| Pulmonary Blastoma |
|
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough |
ORPHA:64741 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613808 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit... |
OMIM:620321 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Emphysema, Congenital Lobar |
|
Respiratory distress, Bronchial cartilage hypoplasia |
OMIM:130710 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Atelectasis... |
ORPHA:2302 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... |
ORPHA:3348 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T... |
OMIM:265120 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms |
OMIM:619150 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... |
OMIM:616576 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Inabili... |
ORPHA:599373 |
| Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Bronchiectasis |
OMIM:616632 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter... |
OMIM:617820 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... |
OMIM:615518 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
| Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Cerebral calcification, Hydroc... |
ORPHA:73256 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
| Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Tremor, Depression, Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Diffic... |
ORPHA:306669 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis |
OMIM:615513 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Hyperactivity, Chor... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... |
OMIM:620317 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Limb tremor, Cerebral cortical atrophy, Difficulty w... |
ORPHA:401820 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Bronchiectasis, Chronic lung disease |
OMIM:617514 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:619220 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
| Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:619468 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Osteomyelitis |
OMIM:608184 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dyspnea, Chronic pu... |
ORPHA:1163 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
| Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... |
OMIM:221770 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissence... |
OMIM:611603 |
| Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Impaired vibration sensation in the l... |
OMIM:610245 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Herpes simplex encephalitis, Bronchiectasis |
OMIM:618982 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... |
OMIM:620315 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Re... |
OMIM:300853 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Abnor... |
OMIM:600795 |
| Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
| Immunodeficiency 62 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:618459 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620282 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Bronchomalacia, Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Re... |
OMIM:616414 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy... |
ORPHA:2524 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Bronchiectasis |
ORPHA:477814 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... |
ORPHA:137914 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Colpocephaly, Cerebellar hypoplasia, Difficulty ... |
ORPHA:401815 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Hypoplasia of the pons, Limb ataxia, Hand t... |
OMIM:607596 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... |
ORPHA:397596 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... |
ORPHA:2257 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Emphysema, ... |
OMIM:242700 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight |
ORPHA:324422 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... |
OMIM:618282 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait ataxia, Cerebellar hypoplasia, Ga... |
ORPHA:488635 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Recurrent otitis media, Respiratory distress |
OMIM:615993 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bruising susceptibility, Bronchiectasis |
OMIM:620080 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Aggressive behavior, Inability to walk, Simplified gyral ... |
OMIM:618492 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Hsd10 Disease |
|
Short attention span, Ataxia, Microcephaly, Tremor, Choreoathetosis, Frontotemporal cerebral atro... |
ORPHA:391417 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Masa Syndrome |
|
Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... |
OMIM:618286 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Allergic rhinitis, Eczem... |
OMIM:618131 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... |
OMIM:619632 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... |
OMIM:243700 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... |
ORPHA:171703 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media |
OMIM:312863 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... |
OMIM:618394 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneum... |
ORPHA:60025 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
| Foxg1 Syndrome |
|
Dystonia, Inability to walk, Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing... |
ORPHA:561854 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly |
OMIM:618010 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candidiasis |
OMIM:150550 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Pon... |
OMIM:617854 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bro... |
OMIM:614868 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:617090 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
| Cdkl5-Deficiency Disorder |
|
Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, Stereotypical hand wringing |
ORPHA:505652 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio... |
ORPHA:171680 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Abnormal repet... |
OMIM:617695 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi... |
OMIM:618986 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Hand tremor, Aplasia/Hypoplasia of the ce... |
ORPHA:401830 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Choreoathetosis, Limb d... |
OMIM:619054 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Microcephaly, Chorea, Attention deficit hyperactivity disorder, Dystonia,... |
OMIM:619725 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia... |
ORPHA:36238 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Small for gestational age, Ataxia, Microcephaly, Inability to walk,... |
ORPHA:79243 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t... |
OMIM:619302 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... |
OMIM:123700 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Otit... |
ORPHA:1572 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Cer... |
OMIM:213200 |
| Immunodeficiency 102 |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... |
OMIM:301082 |
| Laryngomalacia |
|
Respiratory distress, Abnormal tracheal morphology, Congenital laryngeal stridor |
OMIM:150280 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... |
ORPHA:199241 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Dysmetria, Gait ... |
OMIM:614831 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Tracheoesophag... |
ORPHA:142 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Scissor gait, Lateral ventricle dilatation, Dilated thi... |
ORPHA:363654 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Unsteady gait, Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressi... |
ORPHA:453521 |
| Immunodeficiency 32B |
|
Pneumonia, Recurrent respiratory infections, Sinusitis, Bronchiectasis |
OMIM:226990 |
| Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction |
ORPHA:36412 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Irritability, Truncal ataxia, Failure to thrive, Ag... |
OMIM:250620 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, ... |
OMIM:252650 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpo... |
OMIM:616034 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly, Gait ataxia |
OMIM:616540 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... |
ORPHA:309246 |
| Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ... |
ORPHA:135 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Polymicrogyria, Agenesis o... |
ORPHA:250972 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea |
OMIM:610992 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... |
ORPHA:436159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Masa Syndrome |
|
Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Bronchomalacia, Abnormal pulmonary inters... |
OMIM:617180 |
| Immunodeficiency 104 |
|
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Progressi... |
ORPHA:1170 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... |
ORPHA:488627 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... |
ORPHA:183675 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Bronchiectasis |
OMIM:241600 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper... |
OMIM:610042 |
| Septopreoptic Holoprosencephaly |
|
Short attention span, Abnormal midbrain morphology, Impulsivity, Megalencephaly, Hypoplasia of th... |
ORPHA:280195 |
| Atelis Syndrome 1 |
|
Eczema, Bronchiectasis |
OMIM:620184 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Sinusitis, Bronchiectasis, Chronic bronchitis |
OMIM:242860 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... |
OMIM:614700 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Netherton Syndrome |
|
Asthma, Emphysema, Recurrent respiratory infections |
ORPHA:634 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... |
OMIM:605899 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so... |
ORPHA:300570 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Crohn's disease, Bronchial wall thickening |
OMIM:619705 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr... |
OMIM:615574 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Cerebral atrophy, Depression, Abnormal cerebral white... |
ORPHA:314404 |
| Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ... |
ORPHA:169105 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Ataxia, Overweight, Inability to walk... |
ORPHA:2822 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebel... |
ORPHA:255138 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic... |
ORPHA:357058 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... |
OMIM:618917 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Shyness |
ORPHA:280763 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Broad-based gait, Microcephaly, Head titubation, Simplified gyral patte... |
OMIM:620208 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... |
OMIM:604360 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Microcephaly, Inability to walk, Chorea, Irri... |
OMIM:617864 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Microhydranencephaly |
|
Microcephaly, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pac... |
OMIM:605013 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v... |
OMIM:613443 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi... |
OMIM:618266 |
| Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ... |
ORPHA:77299 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Irritability, Secondary microcephaly, Abnormal periventricu... |
OMIM:616881 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Stillbirth, Neonatal death, Pulmonary arterial hypertension |
OMIM:619751 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Opisthotonus, Irritability, Colpocephaly, Secondary microce... |
OMIM:620352 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Depression |
ORPHA:275543 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Obesity, Secondar... |
OMIM:619737 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... |
OMIM:614104 |
| Fusariosis |
|
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Productive cough, Maculopapular exanthem... |
ORPHA:228119 |
| Immunodeficiency 12 |
|
Skin rash, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Recurrent lower respiratory ... |
OMIM:615468 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia... |
OMIM:312170 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Ataxia, Head titubation, Abnormal brainstem morphology, Cerebellar cyst... |
ORPHA:370022 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough |
ORPHA:99825 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618534 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Gait disturbance, Inappro... |
ORPHA:3095 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Impaired social interactions |
ORPHA:168782 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
| Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
| Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... |
ORPHA:331235 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal ... |
OMIM:304340 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Impaired ... |
OMIM:619738 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... |
OMIM:613153 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
| Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... |
ORPHA:3392 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Cutis marmorata, Bronchiectasis |
OMIM:301220 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid... |
OMIM:617542 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... |
ORPHA:980 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Exaggerated startle response, Hypointensity of cerebral... |
ORPHA:845 |
| Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Iridocyclitis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uveitis, Hypo... |
OMIM:181000 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular leukomalacia, Ataxia, Microcephaly, Aggressive behavior, Hydrocephalus, Irritabil... |
OMIM:619833 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... |
ORPHA:565624 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Stereotypical hand w... |
OMIM:614254 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
| Alexander Disease |
|
Cerebral calcification, Ataxia, Megalencephaly, Tremor, Aqueductal stenosis, Chorea, Hydrocephalu... |
ORPHA:58 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... |
OMIM:601495 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ... |
OMIM:300755 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal bronchus morphology, Neonatal asphyxia, Abnormal lung mo... |
ORPHA:141127 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... |
ORPHA:2038 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Aggressive be... |
ORPHA:572798 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia |
ORPHA:101071 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Inability to walk, Gait ataxi... |
OMIM:618606 |
| Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
| Christianson Syndrome |
|
Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:85278 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral... |
ORPHA:166024 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Hypoplasia of the corpus callosum, Depression |
OMIM:620114 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebellar vermis hypoplasia, Cerebral calcification, Hyperactivity... |
OMIM:617281 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Inappropriate laughter |
OMIM:618859 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Ventriculomegaly, Truncal ataxia |
OMIM:617761 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, L... |
OMIM:608629 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Obsessive-compulsive trait, Gait disturbance, Impaired social i... |
ORPHA:544254 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... |
ORPHA:210136 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Decreased body weight |
OMIM:619420 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Adult Krabbe Disease |
|
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor... |
ORPHA:206448 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
| Pgm3-Cdg |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Allerg... |
ORPHA:443811 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Shyness, Aggressive behavior, Self-injurious behavior, Impaired social interaction... |
ORPHA:449291 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... |
OMIM:618056 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Cerebral white matter atrophy, Periventricular leukomalacia, Impulsivity, Micr... |
ORPHA:500055 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax |
OMIM:614816 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Chiari ... |
OMIM:207950 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... |
OMIM:619517 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:616005 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism |
OMIM:300434 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Postural trem... |
OMIM:183090 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter abnormalities, S... |
ORPHA:208447 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia o... |
OMIM:617751 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Irritability, Lateral ventricle dilatation, Abnormal caudate nucle... |
ORPHA:2148 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... |
ORPHA:449280 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... |
OMIM:614742 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Pneumonia |
ORPHA:464370 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Failure to thrive in infancy, Abnormal midbrai... |
ORPHA:356961 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weigh... |
OMIM:614833 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance |
OMIM:618141 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death |
OMIM:300219 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Microcephaly, Inability to walk, Lateral ventricle dilatation, Bruxism, Thin corpus callosum |
OMIM:615716 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... |
OMIM:219700 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Gai... |
ORPHA:411511 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol... |
ORPHA:220497 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,... |
OMIM:617296 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... |
OMIM:607485 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Inability to walk, Stereotypical hand wringing, Bruxism |
OMIM:618497 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto... |
ORPHA:2388 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... |
OMIM:619244 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Steppage gait, Distal sensory impai... |
OMIM:256850 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Dysphagia, Cerebellar hypoplasia,... |
OMIM:617669 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydroceph... |
OMIM:253800 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Type II ... |
ORPHA:370959 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia |
DECIPHER:45 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Failure to thrive in infancy, Simplified gyral pattern, Lateral ven... |
ORPHA:284417 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Tongue thrusting, Gait ataxia |
OMIM:620393 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Microcephaly, Irritability, Lateral ventricle d... |
OMIM:618367 |
| Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... |
OMIM:613177 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
| Glutaric Acidemia I |
|
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia, Failure to ... |
OMIM:231670 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, ... |
ORPHA:183 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia |
OMIM:619317 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Ataxia, Hydrocephalus, Mental deterioration, Chiari type I malformation, ... |
OMIM:618476 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... |
OMIM:618736 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema |
ORPHA:357074 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts... |
ORPHA:544488 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent pharyngitis, Recurrent upper respiratory tract infections, Rec... |
ORPHA:293978 |
| Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash, Facial erythema, Cutane... |
OMIM:210900 |
| Macs Syndrome |
|
Bruising susceptibility, Bronchiectasis, Recurrent aphthous stomatitis |
OMIM:613075 |
| Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Dysphagia, Progressive ce... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Dysphagia, Progressive ce... |
ORPHA:276241 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis |
ORPHA:97285 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Hydrocephalus... |
OMIM:614424 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Stereotypi... |
OMIM:619179 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Mol... |
ORPHA:220493 |
| Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Dysphagia, Secondary microcephal... |
ORPHA:500144 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:610688 |
| Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors |
OMIM:620021 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... |
ORPHA:36234 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... |
ORPHA:3309 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
| Immunodeficiency 31C |
|
Recurrent respiratory infections, Osteomyelitis, Eczema, Cough, Bronchiectasis, Chronic mucocutan... |
OMIM:614162 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... |
ORPHA:98914 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... |
OMIM:618342 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar ... |
OMIM:225790 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... |
OMIM:245150 |
| Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polym... |
OMIM:617757 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia, Agitation, Disinhibition |
ORPHA:1020 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2962 |
| Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Impaired... |
OMIM:164400 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... |
ORPHA:90349 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... |
OMIM:613154 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Imp... |
OMIM:300912 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea, Recurrent lower r... |
OMIM:618426 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth... |
ORPHA:586 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Dilated fourth ventricle, Cerebellar atrophy, Dystonia, Ataxia, Lim... |
OMIM:109150 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... |
OMIM:600430 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Irritability, Lissencephaly, Agenesis o... |
ORPHA:99742 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriat... |
ORPHA:98794 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Failure to thrive, Ventriculomegaly, Cerebellar vermis hypoplasia, Absen... |
ORPHA:397715 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| H Syndrome |
|
Psoriasiform dermatitis, Recurrent pharyngitis, Bronchiectasis, Chronic rhinitis, Facial telangie... |
ORPHA:168569 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep... |
ORPHA:521426 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white matter morphology, Lateral ve... |
ORPHA:457279 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis, Dysphagia, Progressive ce... |
ORPHA:276244 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Malan Overgrowth Syndrome |
|
Hypoplasia of the brainstem, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Epi... |
ORPHA:420179 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Confus... |
ORPHA:68 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal cortical gyration, Cessation of head growth, Progressive m... |
OMIM:617527 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... |
ORPHA:309271 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu... |
OMIM:609583 |
| Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis |
OMIM:612852 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... |
OMIM:182290 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be... |
ORPHA:314679 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress |
OMIM:616974 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
| Halperin-Birk Syndrome |
|
Inability to walk, Colpocephaly, Pseudobulbar paralysis, Failure to thrive, Agenesis of corpus ca... |
OMIM:618651 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Exaggerated startle response, Ataxia |
OMIM:618598 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Failure to thrive, Overweight, Hydrocephalus, Head-banging, Chiari type I m... |
OMIM:619575 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Poor wound healing, Dyspnea, Wheezing, Pneumothorax, Erythema, Bronchiectasis, Urinary... |
ORPHA:99921 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Small for gestational age |
OMIM:620135 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Microcephaly, Cerebral atrophy, Opisthotonus, Dysphagia, Lateral ventr... |
OMIM:619847 |
| Goodpasture Syndrome |
|
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachyp... |
OMIM:233450 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Gait disturbance, Impaired social interactions, Attention ... |
OMIM:300352 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ataxia, Microcephaly, Tremor, Overweight, Inability to walk, Obesity, Stere... |
OMIM:619229 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... |
OMIM:617622 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:619877 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... |
OMIM:617865 |
| Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis med... |
OMIM:251260 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia |
OMIM:617807 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
| Fabry Disease |
|
Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency |
ORPHA:324 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor... |
OMIM:614105 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive mannerisms, Self-muti... |
OMIM:123450 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Bronchiectasis, Recurrent lower respiratory tract infecti... |
OMIM:208900 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Short attention span, Thick cerebral cortex, Ataxia, Microcephaly, Self... |
ORPHA:261183 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Small for gestational age, Microcephaly, Lateral ventricle dilatation, ... |
ORPHA:3078 |
| Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Periventricular cyst... |
ORPHA:3008 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin |
ORPHA:319552 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, I... |
ORPHA:309263 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... |
OMIM:619381 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema |
OMIM:224690 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Dyspnea, Angioedema, Erythema, Myocarditis, Hepatitis, Erythroderma, Thyroidi... |
ORPHA:139402 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... |
ORPHA:168491 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
| Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation... |
OMIM:614219 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... |
ORPHA:778 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... |
OMIM:618291 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Recurrent upper respiratory tract infections, Bronc... |
ORPHA:391487 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteom... |
ORPHA:37042 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Cough, Chronic o... |
ORPHA:2314 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Jaundi... |
ORPHA:26793 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance, Self-mutilation |
ORPHA:457240 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior |
OMIM:614970 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... |
OMIM:614815 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking |
ORPHA:320406 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... |
OMIM:618205 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventric... |
OMIM:617301 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Gait disturbance, Agitation, Bruxism |
OMIM:617903 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, W... |
OMIM:619487 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Tremor, Opisthotonu... |
ORPHA:79139 |
| Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Self-... |
OMIM:103050 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Microcephaly, Dystonia |
ORPHA:438216 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem... |
OMIM:608091 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Self-injurious behavior... |
OMIM:620075 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Co... |
OMIM:609053 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Erythema, Myoca... |
ORPHA:728 |
| Sarcoidosis |
|
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Dyspnea, Abnormal lung mor... |
ORPHA:797 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Athetosis, Impaired social interactions, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interacti... |
OMIM:615656 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
| Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Micr... |
OMIM:619895 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial ... |
OMIM:619512 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Fai... |
OMIM:614924 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Nonproductive co... |
ORPHA:319213 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Recurrent... |
OMIM:617788 |
| Joubert Syndrome 7 |
|
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI,... |
OMIM:611560 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, A... |
ORPHA:314621 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:614299 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Small for gestational age, Microcephaly |
OMIM:619278 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Inferior cerebel... |
OMIM:620327 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, P... |
ORPHA:31826 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
| Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Emphysema, Bronchiectasis, Pyelonephritis, Bronchiolitis, Premature ... |
ORPHA:90348 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia, Osteomyelitis, Re... |
ORPHA:2968 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:604273 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Lateral ventricle dilatat... |
ORPHA:464738 |
| Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
| Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Acrocyanosis, Myositis |
ORPHA:3165 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Tra... |
ORPHA:537 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Progressive gait ataxia, Low frustration to... |
ORPHA:646 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Ataxia, Inability to walk, Repetitive compulsive behavior, Dysphagia, Bruxism, Abnormal repetitiv... |
OMIM:300260 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Pancreatitis |
ORPHA:289916 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... |
ORPHA:209905 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Gait dis... |
ORPHA:2754 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia |
OMIM:608799 |
| Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Pleural effusion, Infectious encephalitis |
ORPHA:292 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions |
ORPHA:557003 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Cortical dysplasia, Lateral ventricle dilatation, Tip-toe gait, Attention ... |
OMIM:617557 |
| Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Trunca... |
ORPHA:263487 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impair... |
ORPHA:261197 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ... |
OMIM:617302 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Agitation, Ataxia |
ORPHA:927 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... |
ORPHA:420741 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Cerebral atrophy, Dementia, Dystonia |
OMIM:272750 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Brainstem ... |
OMIM:213300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Pancreatitis |
ORPHA:79312 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619435 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:608022 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Inability to walk, Colpocephaly, Dystonia, Fa... |
OMIM:620083 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... |
ORPHA:141083 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde... |
OMIM:619312 |
| 48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:10 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:619293 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Pneumothorax |
OMIM:154700 |
| Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Self-injurious behavior, Truncal ataxia, Recurrent hand flapping |
OMIM:617101 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia |
OMIM:300486 |
| Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
| Distal Deletion 10Q |
|
Failure to thrive, Ataxia, Microcephaly, Aggressive behavior, Unsteady gait, Lateral ventricle di... |
ORPHA:96148 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Impaired social interacti... |
OMIM:606232 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Intention tremor |
OMIM:619995 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Recurrent otitis media, Neonatal death,... |
OMIM:616482 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Inflammatory abnormality of the skin, Cutis marmorata, Cholangitis, Eczema,... |
ORPHA:3260 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:610015 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress |
OMIM:615597 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, Dysmetria, Positive Rombe... |
ORPHA:314647 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thick corpus callos... |
OMIM:300967 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... |
OMIM:618161 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
| Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... |
ORPHA:72 |
| Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Per... |
ORPHA:533 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi... |
OMIM:617397 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Tip-toe gait, Attentio... |
ORPHA:293939 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of ... |
OMIM:615665 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... |
OMIM:617303 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly |
OMIM:619423 |
| Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes |
OMIM:300607 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia, Exencephaly |
OMIM:614464 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Aggressive behavior, Shyness, Dysplastic corpus callosum, ... |
ORPHA:466791 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica |
OMIM:617796 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele, Ventriculomegaly |
OMIM:612285 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:619428 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repeti... |
OMIM:616364 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi... |
OMIM:612863 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... |
ORPHA:221 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly |
OMIM:617563 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
| Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia |
OMIM:607143 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Small for gestational age, Pachygyria, Macrogyria, Athetosis, Colpocephaly, C... |
OMIM:614866 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Impaired temperature... |
OMIM:268800 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:2318 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Myasthenia Gravis |
|
Myositis, Dyspnea, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis |
ORPHA:589 |
| Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria |
ORPHA:2328 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance |
ORPHA:213 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
| 6Q Terminal Deletion Syndrome |
|
Obesity, Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Cerebel... |
ORPHA:75857 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Stereotypical hand wringing |
OMIM:312750 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia |
ORPHA:98795 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Recurrent otitis media, Cyanosis |
ORPHA:3304 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins... |
OMIM:615512 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... |
OMIM:614748 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Pneumon... |
ORPHA:48435 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ... |
OMIM:216360 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema |
ORPHA:79330 |
| Smith-Magenis Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Gait disturbance, Attention deficit hype... |
ORPHA:819 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the... |
OMIM:620305 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... |
ORPHA:3342 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo... |
ORPHA:1855 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi... |
OMIM:619306 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder |
ORPHA:391372 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... |
ORPHA:340 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... |
OMIM:620113 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Cocaine Intoxication |
|
Respiratory distress, Glomerulonephritis, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing... |
ORPHA:90068 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Skin rash, Macular purpura |
ORPHA:49566 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:476126 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
| Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Recurrent otitis media, Pulmonary hypoplasia |
OMIM:100800 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Lymphadeniti... |
OMIM:306400 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Respiratory failure, Emphysema, Unilateral lung agenesis |
ORPHA:500150 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyria, Partial agenesis of the cor... |
OMIM:304050 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheal stenosis, Tracheomalacia |
OMIM:217980 |
| Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2834 |
| Bainbridge-Ropers Syndrome |
|
Microcephaly, Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasi... |
OMIM:615485 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia |
OMIM:616271 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Respiratory failure, Chylothorax |
OMIM:620278 |
| Cerebellar-Facial-Dental Syndrome |
|
Periventricular leukomalacia, Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons,... |
ORPHA:444072 |
| Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Pachygyria, Cognitive impairment, Microcephaly |
ORPHA:2065 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Eryth... |
ORPHA:228123 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... |
ORPHA:363705 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... |
OMIM:618820 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... |
ORPHA:536467 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
| Histiocytoid Cardiomyopathy |
|
Cough, Cyanosis, Tachypnea, Pulmonary edema |
ORPHA:137675 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors |
ORPHA:401777 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Tubulointerstitial nephritis, Pancreatitis |
OMIM:251000 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ... |
OMIM:617260 |
| Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Familial Dysautonomia |
|
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Obesity, Hypoplasia of the corpus callosum |
OMIM:619185 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Kniest Dysplasia |
|
Respiratory distress, Recurrent otitis media, Tracheomalacia |
OMIM:156550 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Microcephal... |
ORPHA:177907 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms |
ORPHA:500159 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... |
OMIM:212066 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia |
ORPHA:261250 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Fa... |
OMIM:151050 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Microcephaly, Cer... |
OMIM:611209 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... |
ORPHA:73263 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Cerebral calcification |
ORPHA:3035 |
| Viss Syndrome |
|
Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Emphysema |
OMIM:619472 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Exer... |
OMIM:220110 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Impaired pai... |
ORPHA:293987 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small pituitary gland, Hypopla... |
OMIM:619479 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperventilation |
ORPHA:79241 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Molar tooth sign on MRI... |
OMIM:277170 |
| Leptospirosis |
|
Respiratory distress, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Coug... |
ORPHA:509 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly, ... |
OMIM:619869 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
OMIM:606070 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... |
ORPHA:2552 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microcephaly, Simplified gyral pattern, Aplasia/Hypoplasia of the corpus cal... |
OMIM:251230 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Stridor, Conjunctivitis, Pulmonary arteri... |
ORPHA:505248 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Colpocephaly, Dysphagia, Failure to thrive, Ventricul... |
OMIM:618460 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m... |
ORPHA:293725 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
| Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... |
ORPHA:434179 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi... |
ORPHA:79255 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
| Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Obesity |
OMIM:612291 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness |
OMIM:301030 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri... |
ORPHA:522077 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Tracheoesophageal fistula |
ORPHA:210122 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory failure, Cyanosis, Apnea, Respiratory insufficiency |
OMIM:252010 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Broad-based gait, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, ... |
OMIM:619475 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of ... |
OMIM:243910 |
| Pachyonychia Congenita |
|
Respiratory distress, Angular cheilitis |
ORPHA:2309 |
| White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... |
ORPHA:468678 |
| Zttk Syndrome |
|
Periventricular leukomalacia, Dysplastic corpus callosum, Abnormal cerebral white matter morpholo... |
OMIM:617140 |
| Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis |
ORPHA:1788 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:96263 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea |
ORPHA:17 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:616546 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
| Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... |
ORPHA:707 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Weaver Syndrome |
|
Absent septum pellucidum, Lateral ventricle dilatation, Cerebellar hypoplasia, Polyphagia, Ventri... |
OMIM:277590 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... |
ORPHA:805 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Colpocephaly, Agenesis of corpus c... |
OMIM:301043 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Flushing |
ORPHA:2131 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior |
ORPHA:261494 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress |
OMIM:618922 |
| Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
| Keppen-Lubinsky Syndrome |
|
Microcephaly, Lateral ventricle dilatation, Failure to thrive, Opisthotonus |
OMIM:614098 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Progress... |
OMIM:210710 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... |
OMIM:114290 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Eczema, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abnormal repetitive ... |
OMIM:617330 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bronchomal... |
OMIM:616268 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Absent septum pellucidum, Large for gestational age, Microcephaly, Abnormal cerebral white matter... |
OMIM:300868 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration |
OMIM:610768 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
| Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... |
ORPHA:477993 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Stomatitis, Pulmonary arterial hypertension |
ORPHA:79282 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel... |
OMIM:610188 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Osteomyelitis leading to amputation due to slow healing fractures... |
OMIM:256810 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
| Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Aggressive behavior, H... |
OMIM:270400 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
| Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Cardiorespiratory arrest |
ORPHA:31824 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
| Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Ataxia |
ORPHA:66634 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Absent septum pellucidum, Inability to walk, Abno... |
ORPHA:438213 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Esophagitis, Hyperventilation |
ORPHA:2896 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:615273 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... |
OMIM:619476 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior |
ORPHA:319182 |
| Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia |
OMIM:619777 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cere... |
OMIM:249000 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice |
OMIM:617156 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Molar toot... |
OMIM:619562 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Keratitis |
ORPHA:1051 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
OMIM:613406 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:464311 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic... |
ORPHA:83617 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:508533 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Gait disturbance |
ORPHA:464306 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Osteoarthritis, Upper airway obstruction, Pulmonar... |
ORPHA:740 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm... |
ORPHA:513456 |
| Wilson Disease |
|
Limb dystonia, Tremor, Hypoesthesia, Hand tremor, Face of the giant panda sign, Dysphagia, Dement... |
OMIM:277900 |
| Ogden Syndrome |
|
Apnea, Pulmonary artery stenosis, Pulmonary arterial hypertension, Restrictive ventilatory defect... |
OMIM:300855 |
| Charge Syndrome |
|
Microcephaly, Aqueductal stenosis, Holoprosencephaly, Attention deficit hyperactivity disorder, C... |
ORPHA:138 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... |
OMIM:615948 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
| Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
| Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Aggressive behavior, Hydrocephalus, Polymicrogyria, Self-mutilation, Obesity, Leuko... |
OMIM:607872 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Microcephaly |
OMIM:154400 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms |
OMIM:301040 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia |
OMIM:263520 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory tract infection, Recurrent upper respiratory tract infections, Respiratory distress |
OMIM:180849 |
| Aicardi-Goutières Syndrome |
|
Myositis, Cutis marmorata, Chilblains, Arthritis, Panniculitis, Prolonged neonatal jaundice, Acro... |
ORPHA:51 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration |
ORPHA:96182 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Erythema |
ORPHA:2556 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261537 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia o... |
OMIM:300896 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior |
ORPHA:1675 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| 22Q11.2 Deletion Syndrome |
|
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo... |
ORPHA:567 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation |
ORPHA:508488 |
| Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Apnea |
ORPHA:98889 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
| Gitelman Syndrome |
|
Respiratory distress, Tubulointerstitial nephritis, Hashimoto thyroiditis, Gout |
ORPHA:358 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis |
ORPHA:2255 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... |
ORPHA:534 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Large basal ganglia, Chiari type I malformation, Agenesis of corpus... |
ORPHA:261552 |
| Nmda Receptor Encephalitis |
|
Choreoathetosis, Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
| Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph... |
OMIM:619534 |
| 1P36 Deletion Syndrome |
|
Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:1606 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Osteoarthritis, Ecchymosis, Acrocyanosis, Fragil... |
ORPHA:287 |
| Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruct... |
OMIM:188400 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, ... |
OMIM:619522 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Osteoarthritis, Acrocyanosis, Apnea |
ORPHA:285 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms |
OMIM:301044 |
| Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper... |
OMIM:259050 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Aspiration, Asthma, Apnea |
OMIM:619503 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
| Williams Syndrome |
|
Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Attention deficit hyperactivity disorder, Co... |
ORPHA:904 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation, Microcephaly |
OMIM:147920 |
| Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Coffin-Siris Syndrome 12 |
|
Abnormal repetitive mannerisms |
OMIM:619325 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Dysphagia, Impaired social interactions, Bruxism, Ab... |
ORPHA:2152 |
| Alström Syndrome |
|
Respiratory distress, Dorsocervical fat pad, Glomerulonephritis, Recurrent upper respiratory trac... |
ORPHA:64 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:194190 |
| Norrie Disease |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:649 |
| Pmm2-Cdg |
|
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Pericarditis, Aspiration pne... |
ORPHA:79318 |
