| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Situs inversus to... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic bronchiti... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Situs inversus t... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... |
OMIM:613193 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Ciliary dys... |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Ab... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Abs... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... |
OMIM:615444 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
| Ciliary Dyskinesia, Primary, 50 |
|
Absent inner dynein arms, Coiled sperm flagella, Chronic bronchitis, Short sperm flagella, Chroni... |
OMIM:620356 |
| Bowen-Conradi Syndrome |
|
Short stature, Cryptorchidism, Abnormal lung lobation, Severe postnatal growth retardation, Sever... |
ORPHA:1270 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Decreased nasal nitric o... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Situs inversu... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:618801 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy, Ventriculomegaly, Dec... |
OMIM:617800 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Pneumonia, Ventriculomegaly |
ORPHA:85179 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Microlissencephaly |
|
Pneumonia, Ventriculomegaly |
ORPHA:1083 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology |
OMIM:225050 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac... |
OMIM:300209 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, C... |
ORPHA:188 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Productive cough, Situs inversus totalis... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... |
OMIM:615451 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Postnatal growth retardation, Dyspnea, Pulmonary ven... |
ORPHA:75249 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Wild Type Attr Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Pedal edema, Weight loss, Pleural effusion, Pulmonary... |
ORPHA:330001 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... |
OMIM:618433 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615504 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax, Pulmonar... |
ORPHA:199241 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Immunodeficiency 104 |
|
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent in... |
OMIM:608971 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abnormal re... |
ORPHA:60033 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:608644 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... |
ORPHA:542323 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restri... |
OMIM:611884 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Decreased nasal nitric... |
OMIM:620197 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... |
OMIM:619057 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Eczematoid dermatitis, Failure to thrive, Pneumonia |
OMIM:269840 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:300991 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Edema |
OMIM:616570 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... |
OMIM:279000 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Pericardial effusion, Hydrocephalus, Anasarca, Peripheral edema, Ple... |
OMIM:261740 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Short stature, Ventriculomegaly |
ORPHA:2466 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Generalized edema, Apnea, Edema, Polyhydramnios, Hydrocele... |
ORPHA:79330 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis |
ORPHA:1008 |
| Renpenning Syndrome |
|
Severe short stature, Cachexia, Growth delay, Heterotaxy, Decreased testicular size |
ORPHA:3242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Recurrent respiratory infections, Failure to thrive, Ventriculomegaly |
OMIM:618251 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Increased CSF protein concentration, Pulmonary edema |
OMIM:105210 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Skin rash |
ORPHA:26 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
| Acalvaria |
|
Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema |
ORPHA:64739 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive |
OMIM:129850 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Increased CSF protein concentration, CSF pleocytosis... |
ORPHA:79139 |
| Asbestos Intoxication |
|
Reduced vital capacity, Edema, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive ... |
ORPHA:2302 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature, Pulmonary hypoplasia |
OMIM:618174 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Pulmonary hypoplasia, Neonat... |
OMIM:314390 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Tachypnea, Cough, Failure to thrive, Agenesis of corpus callosum, Pulmonary edema |
ORPHA:137675 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1495 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema |
OMIM:115197 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media |
OMIM:312863 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respi... |
ORPHA:93274 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Dyspnea, Nonproductive cough, Recurrent pneumonia, B... |
ORPHA:980 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory insufficiency, Respiratory failure, Increased CSF protein concentratio... |
OMIM:611722 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent... |
OMIM:601457 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Short stature, Eczema, Pneumonia, Asthma, Failure to thrive |
OMIM:607271 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Ascites, Peripheral edema, Pulmonary edema |
ORPHA:57777 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Failure to thrive, Short stature, Ventriculomegaly |
OMIM:617090 |
| Catel-Manzke Syndrome |
|
Chronic otitis media, Failure to thrive, Short stature, Ventriculomegaly |
ORPHA:1388 |
| Ogden Syndrome |
|
Ventriculomegaly, Apnea, Eczema, Short stature, Lymphedema, Postnatal growth retardation, Cryptor... |
OMIM:300855 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Apnea, Bronchiectasis, Respiratory insufficiency, Increased CSF lactat... |
OMIM:618253 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Short stature, Ventriculomegaly |
ORPHA:1261 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Short stature, Ventriculomegaly |
OMIM:608716 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... |
ORPHA:2902 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Hydrocephalus, Intrauterine growth retardation, Ascites, Ventriculo... |
ORPHA:858 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Hellp Syndrome |
|
Pleural effusion, Increased body weight, Generalized edema, Pulmonary edema |
ORPHA:244242 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... |
ORPHA:340 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Thanatophoric Dysplasia |
|
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respiratory insufficiency, Dispropo... |
ORPHA:2655 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Unilateral cryptorchidism, Ventriculomegaly |
OMIM:618286 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Slender build, Ventriculomegaly |
OMIM:300699 |
| Ethylene Glycol Poisoning |
|
Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ed... |
ORPHA:31826 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... |
OMIM:617967 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short stature, Pneumonia, Recurrent otitis media, Periodontitis, Bronchiolitis |
OMIM:266265 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Glomerulonephritis, Diffuse alveolar hemorrhage, Wheezing,... |
ORPHA:90068 |
| Double Outlet Right Ventricle |
|
Short stature, Tachypnea, Heterotaxy, Pulmonary artery atresia, Failure to thrive |
ORPHA:3426 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Intrauterine growth retar... |
OMIM:610333 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Ventriculomegaly |
OMIM:616531 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... |
ORPHA:397596 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism, Ventriculomegaly |
ORPHA:1568 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... |
ORPHA:449280 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1980 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... |
ORPHA:1163 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Obesity, Delayed puberty |
ORPHA:141333 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Recurrent respiratory infections, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618603 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
ORPHA:254516 |
| Diencephalic Syndrome |
|
Hydrocephalus, Cachexia, Decreased body weight |
ORPHA:1672 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Severe short stature, Ventriculomegaly, Intrauterine growth ret... |
ORPHA:2643 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... |
OMIM:619611 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Short stature, Recurrent skin infections, Postnatal growth reta... |
OMIM:620210 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ... |
ORPHA:255182 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Recurrent otitis media, Failure to thrive, Agenesis of corpus callosum, Ventriculo... |
OMIM:615286 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Sp... |
ORPHA:1908 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive |
OMIM:300400 |
| Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616540 |
| Temple Syndrome |
|
Small for gestational age, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Tru... |
OMIM:616222 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Short stature, Obesity |
ORPHA:2183 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Anomalous pulmonary venous return, Heterotaxy, Bacterial endoca... |
ORPHA:1330 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Chronic otitis media, Fa... |
OMIM:609757 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Growth delay, Short stature, Ventriculomegaly, Large for gestational age |
OMIM:616116 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Immunodeficiency 13 |
|
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolitis... |
OMIM:615518 |
| Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... |
ORPHA:3392 |
| Trisomy 5P |
|
Short stature, Obesity, Ventriculomegaly |
ORPHA:1742 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Short stature, Pulmonary hypoplasia |
OMIM:241800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Agenesis of corpus callosum, Dandy-Wa... |
OMIM:613153 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Hydrocephalus, Failure to thrive, Hydrops fetalis |
OMIM:269920 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Recurrent pneumonia, Ventriculomegaly |
OMIM:615637 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Short stature, Ventriculomegaly |
ORPHA:2515 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Acne, Abnormality of the testis size |
ORPHA:649929 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis |
OMIM:614069 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:619971 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinu... |
OMIM:609029 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... |
OMIM:614700 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Recurrent pneumonia, Dehydration, Failure to thrive, A... |
OMIM:214150 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increased ... |
OMIM:615330 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive |
OMIM:242860 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature |
ORPHA:1516 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... |
OMIM:209950 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Increased CSF lactate, Apneic episodes precipitated by illness, fatigu... |
OMIM:312170 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Disproportionate short-limb short s... |
OMIM:187600 |
| Mulibrey Nanism |
|
Short stature, Hydrops fetalis, Growth delay, Intrauterine growth retardation, Recurrent lower re... |
OMIM:253250 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal... |
ORPHA:163961 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cerebrospinal fluid rhinorrhoea, Cholecystitis, Psori... |
ORPHA:183675 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the ... |
ORPHA:3301 |
| Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Cachexia |
ORPHA:363717 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Increased CSF protein concentration, Pneumonia, Cerebral edema |
OMIM:608033 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respiratory insufficiency, Aplasia/... |
ORPHA:1860 |
| Scorpion Envenomation |
|
Acute pancreatitis, Edema, Myocarditis, Tachypnea, Abnormal nasal mucus secretion, Pulmonary edema |
ORPHA:466677 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, ... |
ORPHA:96170 |
| Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Abnormal lung lobation, Abnormality of abdominal situs, Ab... |
ORPHA:1666 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Ventriculomegaly |
ORPHA:319199 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Pneumonia, Eczema, Peritonitis, Hydrocele testis, Ascites, Cough, Recurrent ot... |
OMIM:619991 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive |
OMIM:226990 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Partial agenesis of the corpus callosum, Tachypnea, Increased CSF lact... |
OMIM:220111 |
| Whipple Disease |
|
Myositis, Pericarditis, Cachexia, Myocarditis, Hydrocephalus, Respiratory insufficiency, Uveitis,... |
ORPHA:3452 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Ventriculomegaly, Failure to thrive, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia, Ventriculomegaly |
OMIM:613328 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... |
ORPHA:436159 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios, Obesity, Ventriculomegaly |
ORPHA:521390 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Increased CSF protein concentration, Respiratory tract infection, Restrictive ventilatory defect,... |
OMIM:218000 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Polyhydramnios, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Fail... |
OMIM:619833 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Edema, Polyhydramnios, Cryptorchidism, Abnormal resp... |
ORPHA:98905 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Hydrocephal... |
ORPHA:3309 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, Atelec... |
OMIM:300219 |
| Autosomal Recessive Primary Microcephaly |
|
Growth delay, Agenesis of corpus callosum, Short stature, Ventriculomegaly |
ORPHA:2512 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Abnormal lung lobation, Tracheoesophageal fistula, Growth delay, Intrauterine grow... |
OMIM:300514 |
| Craniofacial Dyssynostosis With Short Stature |
|
Short stature, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Small for gestational age, Edema, Hydrocephalus, Dandy-Walk... |
ORPHA:79332 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polyhydramnios, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker mal... |
OMIM:225790 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Failure to thr... |
ORPHA:169160 |
| 48,Xxyy Syndrome |
|
Recurrent respiratory infections, Apnea, Cryptorchidism, Asthma, Obesity, Azoospermia, Chronic ot... |
ORPHA:10 |
| Coach Syndrome 2 |
|
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
| Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ventriculomegaly, Failure to thrive, Apnea, Respiratory insufficiency |
OMIM:618228 |
| Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrocephalus, Abnormal lung lobation, Stillbirth, Ascites, Tracheal a... |
OMIM:617667 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Respiratory tract infection, Laryngotracheomalacia, Short stature, Ventriculomegaly |
OMIM:618547 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Dysplastic corpus callosum, Recurrent pneumonia, Extra-axial cerebrospinal fluid a... |
OMIM:619179 |
| 6Q25 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Failure to thrive, Short stature, Ventriculomegaly |
ORPHA:251056 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Tako-Tsubo Cardiomyopathy |
|
Dyspnea, Obesity, Pulmonary edema |
ORPHA:66529 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Respiratory insufficiency |
ORPHA:1895 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele, Respiratory insufficiency |
ORPHA:1914 |
| Hypophosphatasia |
|
Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:436 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, Pneumonia, Cryptorchidism, Growth delay, Decreased testicular size |
ORPHA:1867 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Small for gestational age, Short stature, Polyhydramnios, Asthm... |
OMIM:616777 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Obesity |
OMIM:616521 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... |
ORPHA:261534 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Failure to thrive, Short stature, Aspiration pneumonia |
OMIM:616430 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Dyspnea, Atelectasis, Pneumothorax, Hydrocephalus, ... |
ORPHA:538 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Growth delay, Inflammation of the large intestine, Peau d'orange, Intrauterine gro... |
OMIM:614576 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Pulmonary edema |
ORPHA:73224 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Hydrocephalus, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
| Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Intrauterine gr... |
OMIM:616897 |
| Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Hydrocephalus, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Oligohy... |
ORPHA:1834 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Heterotaxy, Pulmonary artery hypoplasia, Total anomalous pulmonary venous... |
OMIM:616749 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Agenesis of corpus callosum, Ventricul... |
ORPHA:168486 |
| Brain Small Vessel Disease 2 |
|
Growth delay, Ventriculomegaly |
OMIM:614483 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Dandy... |
OMIM:217090 |
| Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Short stature, Allergic ... |
OMIM:618131 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:109120 |
| Peho Syndrome |
|
Recurrent respiratory infections, Palpebral edema, Hydrocephalus, Pedal edema, Peripheral edema, ... |
ORPHA:2836 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Polyhydramnios... |
OMIM:310400 |
| Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... |
ORPHA:85284 |
| Thanatophoric Dysplasia, Type Ii |
|
Polyhydramnios, Respiratory insufficiency, Neonatal death, Lethal short-limbed short stature, Ven... |
OMIM:187601 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Tracheal stenosis, Diffuse alveolar hemorrhage, Keratitis, Localized pul... |
OMIM:608710 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Short stature |
OMIM:300484 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Growth delay, Failure to thrive, Short stature, Ventriculomegaly |
ORPHA:251009 |
| Tenorio Syndrome |
|
Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomati... |
OMIM:616260 |
| Hydrolethalus |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Tracheal... |
ORPHA:2189 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Riddle Syndrome |
|
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... |
ORPHA:420741 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walker malf... |
OMIM:617822 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Obesity, Ventriculomegaly |
OMIM:615630 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum, ... |
OMIM:207950 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Short stature, Disproportionate shor... |
ORPHA:1855 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis... |
OMIM:242700 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ple... |
OMIM:617397 |
| 3C Syndrome |
|
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Hydrocephalus, Dan... |
ORPHA:7 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Short stature, Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... |
OMIM:300957 |
| Mirage Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Decreased body weight, Intrau... |
OMIM:617053 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... |
ORPHA:99330 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
ORPHA:171839 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis... |
ORPHA:292 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, ... |
ORPHA:2169 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size,... |
OMIM:615433 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Uveitis, Restrictive ventilat... |
ORPHA:36412 |
| Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:2701 |
| Fusariosis |
|
Fasciitis, Sinusitis, Lung abscess, Pneumonia, Myositis, Productive cough, Maculopapular exanthem... |
ORPHA:228119 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
| Nocardiosis |
|
Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Pulmonary hypoplasia, S... |
ORPHA:2437 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Mandibular osteomyelitis, Hydrocephalus, Osteoarthritis, Arthritis |
ORPHA:53 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respiratory fail... |
OMIM:618291 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Respiratory ... |
ORPHA:1865 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios |
OMIM:614219 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Inflammatory abnormality of the eye, Respiratory insufficiency |
ORPHA:93262 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age, Disproportionate short-trunk short stature |
OMIM:613330 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Eczema, Cryptorchidism, Recurrent pneumonia, Recurrent otitis media, Tracheobronchomalacia, Ventr... |
ORPHA:500159 |
| Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Asthma, Recurrent pneumonia, Hydrocephalus, Recurrent otitis... |
OMIM:309900 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holopr... |
OMIM:269860 |
| Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Abnormality of the pulmonary artery, Spinal dysraphism |
ORPHA:1926 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... |
ORPHA:36234 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short stature, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced fo... |
OMIM:613686 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Omenn Syndrome |
|
Pneumonia, Edema, Thyroiditis, Erythroderma, Failure to thrive |
ORPHA:39041 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Griscelli Syndrome |
|
Encephalocele, Short stature, Hydrocephalus, Hepatitis, Pedal edema, Ascites |
ORPHA:381 |
| Bloom Syndrome |
|
Small for gestational age, Pneumonia, Bronchitis, Skin rash, Respiratory tract infection, Chronic... |
ORPHA:125 |
| Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
| Desmosterolosis |
|
Severe short stature, Hydrocephalus, Anomalous pulmonary venous return, Growth delay, Intrauterin... |
ORPHA:35107 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Abnormal lung lobation, Anomalous pulmonary venous return, Respiratory insufficienc... |
ORPHA:1120 |
| Coccidioidomycosis |
|
Respiratory distress, Morbilliform rash, Cough, Abnormal sperm morphology, Hypoglycorrhachia, Pne... |
ORPHA:228123 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Respiratory insufficiency, Extra-axial cerebrospinal fluid accumulati... |
OMIM:616900 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Short stature, Overweight, Dilated third ventricle, Hydrocephal... |
OMIM:619575 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Holoprosencephaly, Agenes... |
ORPHA:77298 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Obesity |
OMIM:601794 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydro... |
ORPHA:1546 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Trisomy 1Q |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Increased nuchal translucency, Hydrops fetalis, Ag... |
ORPHA:261344 |
| Hennekam-Beemer Syndrome |
|
Short stature, Pneumonia, Respiratory insufficiency, Failure to thrive, Ventriculomegaly |
ORPHA:2135 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Short stature, Overweight, Cryptorchidism, Asthma, Hydrocephalus, Dilated thir... |
ORPHA:500055 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Dandy-Walker malformation, Ventriculomegaly, Apnea, Occipital e... |
ORPHA:397715 |
| Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis |
ORPHA:60 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent upper... |
OMIM:253220 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Increased CSF protein concentration, Respiratory failure requiring assisted ventilation, Recurren... |
ORPHA:204 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... |
ORPHA:486 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ... |
OMIM:307200 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Alg8-Cdg |
|
Small for gestational age, Edema, Hydrops fetalis, Ascites, Intrauterine growth retardation, Fail... |
ORPHA:79325 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Dehydration, Nephritis, Infectious e... |
ORPHA:2552 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Tachypnea, Apnea, Ventriculomegaly |
OMIM:617622 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Cryptorchidism, Ventriculomegaly, Failure to thrive, Respiratory insufficiency |
ORPHA:88639 |
| Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Ventriculomegaly |
ORPHA:2172 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Hydrocephalus, Ascites, Edema |
ORPHA:93400 |
| Distal Triplication 15Q |
|
Large for gestational age, Hydrocephalus, Hydrocele testis, Pulmonary hypoplasia, Intrauterine gr... |
ORPHA:314588 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... |
ORPHA:370959 |
| Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardia... |
ORPHA:781 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Recurrent otitis media, Failure to thrive, Ventriculom... |
OMIM:617788 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Hydroceph... |
OMIM:257300 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Chronic... |
OMIM:616433 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophage... |
ORPHA:3412 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Cough, Chronic o... |
ORPHA:2314 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Failur... |
ORPHA:37042 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary ven... |
OMIM:602398 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Xq12-Q13.3 Duplication Syndrome |
|
Short stature, Eczema, Cryptorchidism, Recurrent upper respiratory tract infections, Ventriculome... |
ORPHA:314389 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Failure to thrive, Agenesis of corpu... |
OMIM:243310 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Dyspnea, Myocarditis, Angioedema, Hepatitis, Erythroderma, Weight loss, Thyro... |
ORPHA:139402 |
| Crouzon Syndrome |
|
Hydrocephalus, Conjunctivitis, Respiratory insufficiency |
ORPHA:207 |
| Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormal pattern... |
ORPHA:475 |
| Microhydranencephaly |
|
Short stature, Growth delay, Hydranencephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:605013 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| H Syndrome |
|
Psoriasiform dermatitis, Short stature, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Upp... |
ORPHA:168569 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract i... |
OMIM:615952 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... |
ORPHA:276 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis |
OMIM:601005 |
| Achondroplasia |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Hydrocephalus, Upper airway obstruction, Pulmon... |
OMIM:100800 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Dec... |
OMIM:608013 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Hydrocephalus, Disproporti... |
OMIM:616482 |
| Joubert Syndrome 9 |
|
Encephalocele, Apnea, Episodic tachypnea, Ventriculomegaly |
OMIM:612285 |
| Triploidy |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growt... |
ORPHA:3376 |
| Orofaciodigital Syndrome Xvii |
|
Short stature, Ventriculomegaly, Decreased body weight |
OMIM:617926 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Ascites, Pulmonary artery atresia, Pulmonary arterial hypertension,... |
ORPHA:974 |
| Meier-Gorlin Syndrome 4 |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda... |
OMIM:613804 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Short stature, Asthma, Dehydration, Erythrod... |
ORPHA:634 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Dandy-Walker malformation, Rhizomelia, Edema, Polyhydramnios, Postnatal growth retardation, Eryth... |
OMIM:302960 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Dandy-Walker m... |
OMIM:612938 |
| Geleophysic Dysplasia 3 |
|
Short stature, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Tracheal stenosis |
OMIM:617809 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Increased CSF lactate, Growth delay, Pulmonary arterial hypertension, Failu... |
OMIM:619272 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Short stature, Small for gestational age, Polyhydramnios, Cryptorchidism, Pulmonary artery atresi... |
OMIM:301056 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine gro... |
OMIM:612863 |
| Achondroplasia |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventil... |
ORPHA:15 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Tubulointerstitial nephritis, Agenesis of corpus callosum, Dandy-Wa... |
ORPHA:459061 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation |
OMIM:300863 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Nonproductive c... |
ORPHA:319213 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Ventriculomegaly |
OMIM:613730 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature, Oligohydramnios |
OMIM:616294 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
OMIM:612940 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Decreased body we... |
ORPHA:255138 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... |
ORPHA:26793 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ag... |
ORPHA:171680 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
| Lissencephaly Due To Lis1 Mutation |
|
Ventriculomegaly, Polyhydramnios, Aspiration pneumonia |
ORPHA:95232 |
| Brucellosis |
|
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... |
ORPHA:1304 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Increased CSF lactate, Pulmonary hypoplasia, Decreased CSF co... |
OMIM:620306 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure, Small for gestational age, Ventriculomegaly |
OMIM:618804 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Recurrent lower... |
OMIM:613179 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
| Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Cryptorchidism, Se... |
ORPHA:2323 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ventriculomegaly, Short stature, Cachexia |
ORPHA:1933 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Intrauterine growth retardation, Ventriculomegaly, Increased CSF... |
OMIM:619051 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Neonatal respiratory distress, Polyhydramnios, Obesity, Decreased body weight, Ventriculomegaly |
ORPHA:589821 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Failure to thrive |
OMIM:620157 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus |
OMIM:615862 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Obesity |
ORPHA:2180 |
| Encephalocraniocutaneous Lipomatosis |
|
