Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... |
OMIM:612444 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis, C... |
OMIM:618699 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... |
OMIM:615294 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615504 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Ciliary Dyskinesia, Primary, 16 |
|
Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyski... |
OMIM:614017 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Immoti... |
OMIM:242680 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Cerebral hemorrhage, Retrognathia, Moyamoya phenomenon, Dilated cardiomyopathy, ... |
ORPHA:280679 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Cleft Lip With Or Without Cleft Palate |
|
Hearing impairment, Chronic sinusitis, Recurrent otitis media |
ORPHA:1991 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal p... |
OMIM:604571 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Microtia, Depressed nasal bridge, Respiratory insufficiency, Sho... |
ORPHA:1914 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia |
OMIM:226990 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Convex nasal ridge, Malar flattening, Respiratory i... |
ORPHA:93262 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Retrognathia, Abnormality of the nares, Moyamoya phenomenon, Dilated cardiom... |
OMIM:300845 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Communicating hydrocephalus... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis |
OMIM:617092 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neonatal respirato... |
OMIM:618063 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Asthma, Recurrent upper and lower respiratory tract infections, Sinusitis, Otitis media, Atopic d... |
ORPHA:70593 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Circumvallate Placenta Syndrome |
|
Respiratory insufficiency, Intracranial hemorrhage |
OMIM:215550 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Microtia, Micrognathia, Choanal atresia, Choanal stenosis |
OMIM:613717 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Micrognathia, Respiratory insufficiency, Short nose, Choanal atresia, Anteverted n... |
ORPHA:1895 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Cough, Chronic rhinitis, Congenitally corrected t... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Dural Sinus Malformation |
|
Hydrocephalus, Pulsatile tinnitus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral h... |
ORPHA:97339 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Anomalous pulmonary venous return, Airway obstruction, Chronic sinusitis, Respirat... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... |
OMIM:612650 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... |
OMIM:242670 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recurrent upper respira... |
ORPHA:277 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Riddle Syndrome |
|
Otitis media, Intraventricular hemorrhage, Conjunctival telangiectasia, Arthritis, Recurrent sinu... |
ORPHA:420741 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Supernumerary Nostril |
|
Abnormality of ethmoid sinus, Choanal atresia, Supernumerary naris |
ORPHA:141096 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Cough, Wheezing, Chronic sinusitis, Recurrent pneumonia, Ciliary d... |
OMIM:613808 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Bulbous nose, Malar flattening, Depressed nasal bridge, Enamel hypoplasia, Antever... |
OMIM:600991 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Ciliary dyskinesia, Chronic sinusitis, Chronic otitis media |
OMIM:612518 |
Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Convex nasal ridge, Respiratory insufficiency, Choa... |
ORPHA:207 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hearing impairment, Hydrocephalus, Periodontitis |
ORPHA:1008 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis |
OMIM:612692 |
Burn-Mckeown Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, ST segment depression, Hyperglycorrhac... |
ORPHA:90065 |
Aspergillosis |
|
Keratitis, Asthma, Sinusitis, Osteomyelitis, Stroke, Chronic pulmonary obstruction, Intracranial ... |
ORPHA:1163 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Skin rash, Hypotension, Gingival bleedin... |
ORPHA:99828 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus |
OMIM:166990 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... |
ORPHA:326 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Short nose, Ec... |
OMIM:277450 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Prominent nos... |
OMIM:304340 |
+173470 integrin, beta-3 |
|
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... |
OMIM:173470 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Achondroplasia |
|
Conductive hearing impairment, Hydrocephalus, Malar flattening, Depressed nasal bridge, Upper air... |
OMIM:100800 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent sinusitis, Sinusitis, Ciliary dyskinesia, Abnormal ciliary motility |
OMIM:610852 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Protruding ear, Micrognathia, Bilateral choanal atresia, Bilateral... |
OMIM:608572 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Low-set ears, Hydrocephalus, Apnea, Posteriorly rotated ears |
OMIM:300864 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... |
OMIM:609637 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Choanal atresia, Bifid epiglottis |
OMIM:241850 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, Short nose, Pneumonia, Bronchi... |
OMIM:242860 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Aortic valve stenosis, Microretrognathia, Depressed nasal bridge, Dilated fourth v... |
OMIM:220220 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Microretrognathia, Abnormal bleeding, Anteverted nares, Low-set ears |
OMIM:300884 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis |
OMIM:614679 |
Glanzmann Thrombasthenia 1 |
|
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... |
OMIM:273800 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Bifid nasal tip, Wide nose, Choanal atresia, Underdeveloped nasal alae, Abnormal nasal bone morph... |
ORPHA:521308 |
Ciliary Dyskinesia, Primary, 14 |
|
Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusitis, Recurrent pneumo... |
OMIM:613807 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Pulmonic stenosis, Depressed nasal bridge, Coarctation of aorta, Short nose, Patent... |
ORPHA:284169 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... |
ORPHA:229717 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Prominent nose, Ventriculomegaly, Macrotia, Dandy-Walker malformation |
OMIM:617281 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Chroni... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P... |
OMIM:617397 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Laryngomalacia, Underdeveloped nasal alae, Hydrocephalus, Bulbous nose, Protruding ear, Recurrent... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Laryngomalacia, Underdeveloped nasal alae, Hydrocephalus, Bulbous nose, Protruding ear, Recurrent... |
ORPHA:363958 |
Fragile X Syndrome |
|
Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Ascending tubular aorta aneurysm, ... |
ORPHA:908 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... |
ORPHA:183 |
Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage |
OMIM:182410 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Overfolded helix, Abnormality of the pharynx, Choanal atresia, Abnormal ant... |
ORPHA:2759 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intraventricular hemorrhage, Skin rash |
ORPHA:79284 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia |
ORPHA:1226 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Subcutaneous hemorrhage, Skin rash, Peritonitis, Arrhythmia, Vasculitis,... |
ORPHA:727 |
Congenital Hydrocephalus |
|
Sensorineural hearing impairment, Hydrocephalus, Bulbous nose, Colpocephaly, Ventriculomegaly, Po... |
ORPHA:2185 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia... |
ORPHA:449280 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Bruising susceptibility, Retrognathia, Short nose, Choanal atresia... |
ORPHA:561 |
Erythrocytosis, Familial, 1 |
|
Exertional dyspnea, Myocardial infarction, Cerebral hemorrhage, Hypertension |
OMIM:133100 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short ... |
ORPHA:163961 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Skin rash |
ORPHA:26 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Depressed nasal bridge, Choanal atresia, Choanal stenosis |
OMIM:179270 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Laryngomalacia, Hydrocephalus, Aqueductal stenosis, Malar flattening, Trach... |
ORPHA:93259 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... |
OMIM:615451 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Protruding ear, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Distal Trisomy 18Q |
|
Micrognathia, Low-set, posteriorly rotated ears, Carious teeth, Short nose, Choanal atresia, Ante... |
ORPHA:1716 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media |
OMIM:618449 |
Yellow Nail Syndrome |
|
Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Hypoplasia ... |
ORPHA:662 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... |
ORPHA:94080 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Micrognathia, Patent ductus arteriosus, Low-set ears, Underdeveloped nasal alae, W... |
ORPHA:1516 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Convex nasal ridge, Retrognathia, Micrognathia, Coarctation of aorta, Short nose, ... |
ORPHA:2409 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Gómez-López-Hernández Syndrome |
|
Anteverted nares, Low-set ears, Hydrocephalus |
ORPHA:1532 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Erythrocytosis, Familial, 2 |
|
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
Rheumatic Fever |
|
Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Recurrent... |
ORPHA:3099 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Microretrognathia, Microtia, Short nose, Low-set ears, ... |
OMIM:613603 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Hydrocephalus, Bulbous nose, Malar flattening, Depressed nasal... |
ORPHA:2180 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Granulomatosis With Polyangiitis |
|
Keratitis, Sinusitis, Respiratory insufficiency, Retinal hemorrhage, Chronic otitis media, Cough,... |
OMIM:608710 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Malar flattening, Depressed nasal bridge, Low-set, posterior... |
OMIM:123790 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... |
OMIM:618204 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... |
ORPHA:853 |
Temple Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Micrognathia, Wide nose, Recurrent otitis media, Anteverte... |
OMIM:616222 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses |
ORPHA:306741 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Micrognathia, Choanal atresia, Prominent nasal bridge |
OMIM:615095 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatiti... |
OMIM:243700 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Immunodeficiency 102 |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr... |
OMIM:301082 |
X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arth... |
ORPHA:47 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus, Depressed nasal bridge, Abnormal nasal morphology |
ORPHA:83473 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Convex nasal ridge, Respiratory insufficiency, Ventriculomegaly, CSF lymphocytic p... |
OMIM:610333 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Choanal Atresia |
|
Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Nasal conge... |
ORPHA:137914 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Felty Syndrome |
|
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo... |
ORPHA:47612 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Bulbous nose, Protruding ear, Microtia, Tetralogy of Fallot, Cario... |
ORPHA:2316 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Cerebral hemorrhage, Optic neuritis, Anterior uveitis, Panniculitis |
OMIM:301081 |
Fried Syndrome |
|
Hearing impairment, Hydrocephalus, Macrotia |
ORPHA:85335 |
Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Apnea, Hydrocephalus, Sinusitis, Depressed nasal bridge, Abnorm... |
ORPHA:579 |
Pfeiffer Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Short nose, Choanal atresia, Hypoplasia of the maxilla, Ch... |
OMIM:101600 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... |
ORPHA:331235 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... |
OMIM:608644 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachy... |
ORPHA:36234 |
Primary Angiitis Of The Central Nervous System |
|
Stroke, Cerebral vasculitis, CSF pleocytosis, Intracranial hemorrhage, Abnormal CSF protein level... |
ORPHA:140989 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Thickened helices, Respiratory distress, Hydrocephalus, Malar flattening, Depressed nasal bridge,... |
ORPHA:1555 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo... |
ORPHA:906 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Immunodeficiency 61 |
|
Recurrent sinusitis, Recurrent otitis media, Arthritis |
OMIM:300310 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Snakebite Envenomation |
|
Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... |
ORPHA:449285 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Pulmonic stenosis, Low-set, posteriorly rotated ears, Carious teeth, Short nose, M... |
ORPHA:2701 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Laryngomalacia, Hydrocephalus, Malar flattening, Microtia, Depressed nasal bridge, Micrognathia, ... |
ORPHA:171839 |
Choanal Atresia And Lymphedema |
|
Choanal atresia |
OMIM:613611 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose |
ORPHA:1135 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Convex nasal ridg... |
ORPHA:87 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Sensorineural hearing impairment, Retrognathia, Cupped ear, Mixed hearing impairment, Recurrent a... |
OMIM:300472 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... |
ORPHA:464321 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Choanal atresia, ... |
OMIM:147250 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent otitis media, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthrit... |
ORPHA:183675 |
Anophthalmia Plus Syndrome |
|
Abnormal nasal morphology, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Apla... |
ORPHA:1104 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Retrognathia, Cupped ear, Hearing im... |
ORPHA:52055 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Bulbous nose, Overfolded helix, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopa... |
OMIM:608836 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... |
ORPHA:90068 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Micrognathia, Short nose, Ventriculomegaly, Anteverted nares, Wide nasal bridge |
OMIM:618577 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Rere-Related Neurodevelopmental Syndrome |
|
Micrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Ventriculomegaly, Anteverted na... |
ORPHA:494344 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Peritonitis, Ph... |
ORPHA:2686 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Airway obstruction, Cartilaginous ossification o... |
OMIM:245150 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Chronic sinusitis, Cough, Recurrent otitis media |
OMIM:619607 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Conductive hearing impairment, Malar flattening, Microtia, Overfolded helix... |
OMIM:610536 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal pinna morphology, Malar flattening, Depressed nasal bridge, Choanal atres... |
OMIM:207410 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis |
OMIM:149700 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Osteoglosphonic Dysplasia |
|
Protruding ear, Micrognathia, Choanal atresia, Multiple unerupted teeth, Anteverted nares |
ORPHA:2645 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent sinusitis, Neonatal respiratory distress, Cough, Bronchiectasis |
OMIM:300991 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Laryngomalacia, Aqueductal stenosis, Tracheomalacia, Depressed nasal bridge... |
ORPHA:93260 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Hearing impairment... |
OMIM:300968 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc... |
OMIM:617091 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Bilateral choanal atresia, Short nose, Choanal atresia, Choanal stenosis,... |
OMIM:619859 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Long nose, Communicating hydrocephalus, Tetralogy of Fallot, W... |
ORPHA:2184 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Beemer-Ertbruggen Syndrome |
|
Bulbous nose, Micrognathia, Respiratory insufficiency, Low-set, posteriorly rotated ears, Communi... |
ORPHA:1237 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... |
OMIM:307200 |
Microform Holoprosencephaly |
|
Asthma, Holoprosencephaly, Tetralogy of Fallot, Narrow nasal bridge, Short nose, Choanal atresia,... |
ORPHA:280200 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short nose, Macrotia, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Mental Retardation, Buenos Aires Type |
|
Dental malocclusion, Hydrocephalus, Protruding ear, Carious teeth, Prominent nose, Mandibular pro... |
OMIM:249630 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Overfolded helix, Hearing impairment, Patent ductus arteriosus, Low-set ears |
ORPHA:251046 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, Short nose, ... |
ORPHA:1791 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Pancreatitis, Otitis media, Increased inflammatory response, Gastrointestinal he... |
ORPHA:900 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Respiratory insufficiency, Hearing impa... |
ORPHA:93274 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Sleep apnea, Hydrocephalus, Otitis media, Depressed nasal bridge, Central apnea, Hearing impairme... |
OMIM:616482 |
Gapo Syndrome |
|
Depressed nasal bridge, Micrognathia, Delayed eruption of teeth, Hearing impairment, Thick nasal ... |
ORPHA:2067 |
Mend Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Microretrognathia, Low-set ears, Prominent nasal bridge, Da... |
OMIM:300960 |
Sweeney-Cox Syndrome |
|
Microtia, Overfolded helix, Micrognathia, Cupped ear, Hearing impairment, Choanal atresia, Short ... |
OMIM:617746 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Myocarditis, Hematochezia, Acute infectious pneumonia, Rhinorrhe... |
ORPHA:73263 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media |
OMIM:620032 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Neural tube defect |
OMIM:119580 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Recurrent upper respiratory tract infections, Chronic otitis media, Thick nasal alae, ... |
ORPHA:583 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Depressed nasal ridge, Ethmoidal encephalocele, Choanal atresia, Low-set ears, Posteriorly rotate... |
OMIM:607597 |
Fg Syndrome Type 1 |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Microtia, Micrognathia, Cupped... |
ORPHA:93932 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Macrotia, Congestive heart failure |
OMIM:300886 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Micrognathia, Short nose, Occipital encephalocele |
OMIM:241800 |
Cleidocranial Dysplasia |
|
Sleep apnea, Sinusitis, Supernumerary tooth, Depressed nasal bridge, Micrognathia, Chronic otitis... |
ORPHA:1452 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, At... |
OMIM:613309 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Infectious encephalitis, Ventriculomegaly, Meningocele, Dandy-Walker mal... |
ORPHA:2481 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Microtia, Micrognathia, Anotia, Conotruncal defect |
OMIM:243440 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal bridge, Wide nasal base |
OMIM:616521 |
Tenorio Syndrome |
|
Apnea, Hydrocephalus, Raynaud phenomenon, Syncope, Stomatitis, Wide nose, Ventriculomegaly, Pneum... |
OMIM:616260 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... |
OMIM:608647 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Otitis media, Long nose, Micrognathia, Recurrent bronchitis, Choanal atresia, Recurren... |
OMIM:251260 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... |
ORPHA:572 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Low hanging columella, Pulmonic stenosis, Micrognathia, Anencephaly, Wide nasal bridge, Delayed e... |
OMIM:619148 |
Familial Hyperaldosteronism Type Ii |
|
Tinnitus, Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Immunodeficiency 20 |
|
Recurrent sinusitis, Wheezing, Recurrent otitis media, Recurrent viral upper respiratory tract in... |
OMIM:615707 |
Chromosome 9P Deletion Syndrome |
|
Malar flattening, Retrognathia, Depressed nasal bridge, Micrognathia, Heart murmur, Prominent ant... |
OMIM:158170 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Depressed nasal bridge, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent pneumonia |
OMIM:613494 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Kilquist Syndrome |
|
Choanal atresia, Increased CSF albumin concentration, Mandibular prognathia, Low-set ears, Hypopl... |
OMIM:619080 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Sensorineural hearing impairment, Choanal atresia, Anosmia, Hyposmia |
OMIM:147950 |
Joubert Syndrome 14 |
|
Low-set ears, Hydrocephalus, Malar flattening, Posteriorly rotated ears, Hypertension, Encephaloc... |
OMIM:614424 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Otitis media, Cerebral vasculitis, Recurrent upper respiratory tract infections, Pneum... |
OMIM:613179 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Choanal atresia |
OMIM:613970 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, Bronchi... |
OMIM:612649 |
Raine Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Protruding ear, Malar flattening, Depressed nasal bridg... |
OMIM:259775 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Overfolded helix, Broad nasal tip, Micrognathia, Chronic otitis media, Patent duct... |
OMIM:609757 |
Familial Hyperaldosteronism Type I |
|
Tinnitus, Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Depressed nasal bridge, Respiratory insufficiency, Hearing impairment, Patent duct... |
ORPHA:2655 |
Whim Syndrome |
|
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Lymphadenitis, Severe peri... |
ORPHA:51636 |
Pgm3-Cdg |
|
Sensorineural hearing impairment, Conductive hearing impairment, Asthma, Osteomyelitis, Vasculiti... |
ORPHA:443811 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Convex nasal ridge, Low hanging columella, Chroni... |
OMIM:613385 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... |
OMIM:613193 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... |
ORPHA:276621 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Microtia, Intracranial hemorrhage, Respiratory insufficiency, Heart murmur, Overha... |
ORPHA:163979 |
Acquired Purpura Fulminans |
|
Skin rash, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothr... |
ORPHA:49566 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Micrognathia, Anencephaly, Low-set, posteriorly rotated ears, T... |
ORPHA:1908 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Respiratory failure, Communicating hydrocephalus, Depressed nasal ... |
ORPHA:1861 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F... |
ORPHA:228119 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Inflammation of th... |
OMIM:600903 |
Diencephalic Syndrome |
|
Hydrocephalus, Macrotia |
ORPHA:1672 |
Marshall-Smith Syndrome |
|
Apnea, Hydrocephalus, Airway obstruction, Overfolded helix, Depressed nasal bridge, Bilateral con... |
OMIM:602535 |
Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615500 |
Central Precocious Puberty |
|
Hydrocephalus, Acne |
ORPHA:759 |
Microsporidiosis |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... |
ORPHA:2552 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Chronic sinusitis, Chronic otitis media |
OMIM:619608 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Congenital Hypothyroidism |
|
Sinusitis, Depressed nasal ridge, Arrhythmia, Hypotension, Hypertension, Hearing impairment, Anosmia |
ORPHA:442 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Depressed... |
OMIM:220210 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Cough, Hypoplasia of the maxilla, Anteverted nares, Keratoconjunctivitis sicca... |
ORPHA:238468 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Bruising susceptibility, Intracranial hemorrhage, Chronic otiti... |
ORPHA:3226 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Tinnitus, Prolonged QT interval, Hypertension, Epistaxis |
ORPHA:251274 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Subdural hemorrhage, Cerebral he... |
ORPHA:536545 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent... |
OMIM:615518 |
Acrofacial Dysostosis, Cincinnati Type |
|
Microtia, Retrognathia, Micrognathia, Anotia, Choanal atresia, Patent ductus arteriosus, Hypoplas... |
OMIM:616462 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Encepha... |
ORPHA:2162 |
Chronic Granulomatous Disease |
|
Sinusitis, Chronic pulmonary obstruction, Otitis media, Eczema, Inflammatory abnormality of the eye |
ORPHA:379 |
Chromosome 17P13.1 Deletion Syndrome |
|
Anteverted nares, Hydrocephalus, Prominent nasal bridge |
OMIM:613776 |
Lissencephaly 5 |
|
Hearing impairment, Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Plasminogen Deficiency, Type I |
|
Periodontitis, Hydrocephalus, Nephritis, Recurrent upper respiratory tract infections, Ventriculo... |
OMIM:217090 |
Diamond-Blackfan Anemia 7 |
|
Tetralogy of Fallot, Atresia of the external auditory canal, Choanal atresia, Patent ductus arter... |
OMIM:612562 |
Hydranencephaly |
|
Infantile sensorineural hearing impairment, Abnormal internal carotid artery morphology, Abnormal... |
ORPHA:2177 |
Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, Recurren... |
OMIM:614874 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... |
ORPHA:624 |
Methimazole Embryofetopathy |
|
Choanal atresia, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Central Neurocytoma |
|
Tinnitus, Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Keutel Syndrome |
|
Depressed nasal bridge, Recurrent sinusitis, Hearing impairment, Wide nose, Recurrent otitis medi... |
ORPHA:85202 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Blepharitis, Conductive hearing impairment, Bilateral choanal atresia, Atresia of the external au... |
OMIM:106260 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Ciliary dyskin... |
OMIM:614935 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... |
ORPHA:494424 |
Apert Syndrome |
|
Dental malocclusion, Hydrocephalus, Malar flattening, Depressed nasal bridge, Chronic otitis medi... |
OMIM:101200 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Micrognathia, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Abnormality of the cerebrospinal fluid, Lymphadenitis, Increa... |
ORPHA:449427 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Infectious encephalitis, Hydrocephalus |
ORPHA:447788 |
Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... |
OMIM:615444 |
Fetal Gaucher Disease |
|
Anteverted nares, Depressed nasal bridge, Intracranial hemorrhage, Low-set, posteriorly rotated ears |
ORPHA:85212 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Bulbous nose, Overfolded helix, Carious teeth, Acne, Gastrointestinal hemorrhage, ... |
ORPHA:567 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media... |
OMIM:607594 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Progressive hearing impairment, Delayed eruption of teeth, Carious teeth, Aortic d... |
ORPHA:666 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Hypoplasia of the maxilla, Ven... |
OMIM:109120 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema |
OMIM:613960 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... |
OMIM:616576 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Low-set, posteriorly rotated ears, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Abnormality of dental color, Yellow-brown discoloration of the teeth, Amelogenesis... |
ORPHA:1946 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Short nose, Choanal atresia,... |
ORPHA:83 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, Panniculitis |
OMIM:617591 |
Congenital Toxoplasmosis |
|
Hearing impairment, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Carious teeth,... |
ORPHA:53 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Malar flattening, Abnormal location of ears, Patent ductus arteriosus, Ventriculom... |
OMIM:218350 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea |
ORPHA:169105 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Spina bifida occulta, Wide nose, Choanal atresia, Low-set ears |
OMIM:619227 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Low-set, posteriorly rotated ears |
ORPHA:2635 |
Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Hydrocephalus, Congestive heart failure |
OMIM:269920 |
Hydrocephalus With Associated Malformations |
|
Micrognathia, Hydrocephalus |
OMIM:236640 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... |
ORPHA:29072 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
B4Galt1-Cdg |
|
Hydrocephalus, Inflammatory abnormality of the skin, Dandy-Walker malformation, Abnormal bleeding... |
ORPHA:79332 |
Nephronophthisis 18 |
|
Hydrocephalus, Tubulointerstitial nephritis |
OMIM:615862 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus, Congestive heart failure |
ORPHA:163596 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Thin anteverted nares, Aortic valve stenosis, Microtia, Micrognathia, Anotia, Apla... |
ORPHA:2306 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Low-set, posteriorly rotated ears, Chronic lung disease, Hepatitis, Choanal atresia, Portal hyper... |
ORPHA:228426 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sleep apnea, Hydrocephalus, Aortic valve stenosis, Depressed nasal bridge, Micrognathia, Mild hea... |
ORPHA:459061 |
Diabetic Embryopathy |
|
Hydrocephalus, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Sp... |
ORPHA:1926 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Tinnitus, Second degree atrioventricular block, Hypertension, Pulmonary ... |
ORPHA:369929 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Pallister-Hall Syndrome |
|
Bifid epiglottis, Holoprosencephaly, Microtia, Depressed nasal bridge, Hypoplasia of the epiglott... |
OMIM:146510 |
Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arteriovenous malformation, Hydrocephalus, Depressed nasal bridge, Ar... |
ORPHA:60040 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Tinnitus, Hypertension, Epistaxis |
ORPHA:231625 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Respiratory insufficiency, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Hydrocephalus, Respiratory failure, Aqueductal stenosis |
OMIM:276950 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
Tetrasomy 5P |
|
Respiratory distress, Hydrocephalus, Micrognathia, Heart murmur, Short nose, Anteverted nares, Lo... |
ORPHA:3309 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Sensorineural hearing impairment, Hydrocephalus, Retrognathia, Patent ductus arteriosus, Antevert... |
OMIM:612938 |
Hydrolethalus |
|
Laryngomalacia, Hydrocephalus, Abnormality of the sense of smell, Retrognathia, Micrognathia, Ane... |
ORPHA:2189 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Bronchiec... |
OMIM:240500 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Laryngomalacia, Hydrocephalus, Depressed nasal bridge, Micrognathia, Short nose, Posteriorly rota... |
OMIM:619833 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Malar rash, Skin rash, Abnormal bleeding, Maculopapular exanthema, Arrhythmia, Abn... |
ORPHA:398124 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... |
ORPHA:324636 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Conjunctivitis, Recurrent otitis media |
OMIM:613493 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pustule, Abnormality of the cerebrospinal fluid, Hyposmia, Arrhythmia, Increased CSF p... |
ORPHA:68 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Micrognathia, Short nose, Low-set ears |
ORPHA:163966 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Sensorineural hearing impairment, Bulbous nose, Colpocephaly, Communicating hydrocephalus, Ventri... |
OMIM:615219 |
Popov-Chang syndrome |
|
Hydrocephalus, Pulmonic stenosis, Long nose, Depressed nasal bridge, Recurrent otitis media, Ante... |
OMIM:618428 |
Hec Syndrome |
|
Abnormality of the pharynx, Respiratory insufficiency, Arrhythmia, Communicating hydrocephalus, C... |
ORPHA:2119 |
Achondroplasia |
|
Hydrocephalus, Central sleep apnea, Hypoxemia, Depressed nasal bridge, Short nasal bridge, Restri... |
ORPHA:15 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Bulbous nose, Micrognathia, Noncommunicating hydrocephalus, Macrotia, Anteverted nares, Low-set e... |
OMIM:619320 |
Gorlin Syndrome |
|
Hydrocephalus, Abnormality of the sense of smell, Carious teeth, Mandibular prognathia, Wide nasa... |
ORPHA:377 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent s... |
ORPHA:217390 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Hydrocephalus, Short nose, Depressed nasal ridge |
OMIM:300863 |
Mirage Syndrome |
|
Hydrocephalus, Petechiae, Aspiration pneumonia, Intracranial hemorrhage, Patent ductus arteriosus |
OMIM:617053 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Hypoxemia |
ORPHA:284227 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Micrognathia, Hearing impairment, Choanal atresia, Choanal stenosis |
OMIM:156400 |
Opitz-Kaveggia Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Microtia, first degree, Micrognathia, Prominent ... |
OMIM:305450 |
Hallermann-Streiff Syndrome |
|
Convex nasal ridge, Supernumerary tooth, Malar flattening, Tracheomalacia, Micrognathia, Respirat... |
ORPHA:2108 |
Propionic Acidemia |
|
Apnea, Pancreatitis, Cerebellar hemorrhage, Eczema, Tachypnea, Cardiomyopathy |
OMIM:606054 |
Krabbe Disease |
|
Hearing impairment, Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Chronic otitis media, Pneumonia, Atyp... |
ORPHA:83471 |
Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Microtia, Pulmonic stenosis, Tracheomalacia, Micrognathia, Bilater... |
ORPHA:314679 |
Meningioma |
|
Hydrocephalus, Cerebral hemorrhage, Abnormality of the sense of smell, Progressive pulmonary func... |
ORPHA:2495 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:244242 |
Bosma Arhinia Microphthalmia Syndrome |
|
Conductive hearing impairment, Abnormal pinna morphology, Dental malocclusion, Paranasal sinus hy... |
OMIM:603457 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Conductive hearing impairment, Malar flattening, Microtia, Ret... |
ORPHA:861 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Pneumonia, Respiratory failure, Palpitations, Tachycardia, Shock, S... |
ORPHA:340 |
Whipple Disease |
|
Hydrocephalus, Respiratory insufficiency, Myositis, Hypotension, Myocarditis, Arthritis, Myocardi... |
ORPHA:3452 |
Emanuel Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Severe hearing impairment, Dandy-Walker malformation, Low h... |
ORPHA:96170 |
Proboscis Lateralis |
|
Abnormal facial skeleton morphology, Holoprosencephaly, Abnormal ethmoid bone morphology, Abnorma... |
ORPHA:141099 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Wide nasal bridge |
OMIM:175700 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Depressed nasal bridge, Micrognathia, Hearing impairment, Posteriorly rotated ears... |
OMIM:619951 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Micrognathia, Intracranial ... |
ORPHA:109 |
Arachnoiditis |
|
Tinnitus, Hearing impairment, Hydrocephalus |
ORPHA:137817 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Bulbous nose, Protruding ear, Bruising susceptibility, Malar flattening, Prominent... |
OMIM:612940 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Sensorineural hearing impairment, Sleep apnea, Bulbous nose, Abnormal pinna morphology, Micrognat... |
OMIM:616975 |
Congenital Tufting Enteropathy |
|
Choanal atresia, Punctate keratitis, Arthritis |
ORPHA:92050 |
Joubert Syndrome |
|
Apnea, Hydrocephalus, Episodic tachypnea, Encephalocele, Anteverted nares, Abnormal pattern of re... |
ORPHA:475 |
Desmosterolosis |
|
Hydrocephalus, Micrognathia, Cupped ear, Hypoplastic nasal bridge, Short nose, Total anomalous pu... |
OMIM:602398 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Pancreatitis, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomy... |
OMIM:251000 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Sensorineural hearing impairment, Hydrocephalus |
ORPHA:99947 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidi... |
OMIM:102700 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus |
OMIM:273730 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
3C Syndrome |
|
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Depressed nasal bridge, Micrognathia, Wi... |
ORPHA:7 |
Bresek Syndrome |
|
Hydrocephalus, Protruding ear, Convex nasal ridge, Hearing impairment, Low-set ears |
ORPHA:85284 |
Trisomy 17P |
|
Hydrocephalus, Aortic valve stenosis, Malar flattening, Micrognathia, Hearing impairment, Wide no... |
ORPHA:261290 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Rhombencephalosynapsis |
|
Hydrocephalus, Microretrognathia, Low-set, posteriorly rotated ears, Short nose, Ventriculomegaly... |
ORPHA:59315 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Tachypnea, Anteverted nares, Encephaloce... |
ORPHA:2318 |
Joubert Syndrome With Renal Defect |
|
Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Anteverted nares, Abnormal pattern of re... |
ORPHA:220497 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Depressed nasal bridge, Respiratory insufficiency, Patent ductus arteriosus, Ventr... |
ORPHA:1860 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Hypoplasia of the maxilla, Mandibular prognathia, Hearing impairment, Wide nasal b... |
OMIM:601499 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Malar flattening, Micrognathia, Cupped ear, Choanal atresia, Low-s... |
OMIM:263750 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Chronic lung disease, Decre... |
OMIM:219700 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Asthma, Hydrocephalus, Bruising susceptibility, Eczema, Allergic rhinitis, Patent ductus arteriosus |
OMIM:618162 |
Charge Syndrome |
|
Overfolded helix, Depressed nasal bridge, Delayed eruption of teeth, Hypoplasia of the semicircul... |
ORPHA:138 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Prominence of the premaxilla, Patent ductus arterio... |
OMIM:614886 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Depress... |
OMIM:610828 |
Trisomy 1Q |
|
Hydrocephalus, Microretrognathia, Depressed nasal bridge, Wide nose, Patent ductus arteriosus, Ve... |
ORPHA:261344 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Vascular dilatation, Ventriculomegaly |
OMIM:602200 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Malar flattening, Abnormal earlobe morphology, Aortic regurgita... |
ORPHA:261330 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Inspiratory stridor, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Choanal atresia |
OMIM:113700 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Hydrocephalus, Broad nasal tip, Micrognathia, Ventriculomegaly, Macrotia, Low-set ears, Wi... |
OMIM:614969 |
Trisomy 18 |
|
Microretrognathia, Holoprosencephaly, Pointed helix, Anencephaly, Low-set, posteriorly rotated ea... |
ORPHA:3380 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holo... |
OMIM:619895 |
Craniofacioskeletal Syndrome |
|
Microtia, Micrognathia, Hypoplastic frontal sinuses, Patent ductus arteriosus, Choanal atresia, I... |
OMIM:300712 |
Peho Syndrome |
|
Hydrocephalus, Malar flattening, External ear malformation, Short nose, Ventriculomegaly, Macroti... |
ORPHA:2836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation |
OMIM:615287 |
Duane-Radial Ray Syndrome |
|
Sensorineural hearing impairment, Spina bifida occulta, Choanal atresia, Vascular dilatation, Cho... |
OMIM:607323 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Hydrocephalus, Malar flattening, Depressed nasal ... |
OMIM:612582 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hydrocephalus, Bruising susceptibility, Retrognathia, Narrow nose, Keratoconjunctivitis sicca, La... |
OMIM:616914 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Sensorineural hearing impairment, Depressed nasal bridge, Hepatitis, Choanal atresia, Portal hype... |
OMIM:610199 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Broad nasal tip, Short nose, M... |
OMIM:239300 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Communicating hydrocephalus |
ORPHA:1064 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus, Abnormality of the sphenoid sinus |
ORPHA:91350 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Malar flattening, Long nose, Depressed nasal bridge, Short nose, Right bundle bran... |
OMIM:618590 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Anteverted nares, Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Myopathy, Centronuclear, X-Linked |
|
Dental malocclusion, Hydrocephalus, Respiratory failure requiring assisted ventilation, Neonatal ... |
OMIM:310400 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Epididymitis, Spontaneous h... |
ORPHA:99827 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Malar flattening |
ORPHA:53271 |
Desmosterolosis |
|
Large earlobe, Hydrocephalus, Anomalous pulmonary venous return, Retrognathia, Depressed nasal br... |
ORPHA:35107 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Low-set ears, Choanal atresia |
OMIM:270420 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Abnormal bleeding, Retrognathia, Inflammation of the large intestine, Enamel hypop... |
OMIM:614576 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Tricuspid regurgitation, Cupped ear, Patent ductus arteriosu... |
OMIM:612863 |
Cornelia De Lange Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Otitis media, Depressed nasal br... |
OMIM:122470 |
Coccidioidomycosis |
|
Respiratory distress, Hydrocephalus, Pancreatitis, Hypoglycorrhachia, Pneumonia, Pericarditis, Os... |
ORPHA:228123 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Micrognathia, Choanal atresia, Low-set ears, Single naris |
OMIM:273395 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Hydrocephalus, Retrognathia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose... |
ORPHA:1812 |
Orofaciodigital Syndrome Type 1 |
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Abnormal dental enamel morphology, Micrognathia, Wide nasal bridge, Chronic otitis media, Hypopla... |
ORPHA:2750 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subependymal nodules, Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus, Ventr... |
ORPHA:25 |
Monosomy 18Q |
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Sensorineural hearing impairment, Hydrocephalus, Bulbous nose, Aortic valve stenosis, Left-to-rig... |
ORPHA:1600 |
Poikiloderma With Neutropenia |
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Blepharitis, Skin rash, Retrognathia, Depressed nasal bridge, Micrognathia, Carious teeth, Recurr... |
OMIM:604173 |
Endocrine-Cerebroosteodysplasia |
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Hydrocephalus, Abnormal pinna morphology, Malar flattening, Holoprosencephaly, Micrognathia, Depr... |
OMIM:612651 |
Nasu-Hakola Disease |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Mucopolysaccharidosis, Type Ii |
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Asthma, Hydrocephalus, Airway obstruction, Sleep apnea, Delayed eruption of teeth, Tracheobroncho... |
OMIM:309900 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Depressed nasal bridge, Short nose, Ventriculomegaly, Anteverted nares, Low-set ea... |
OMIM:617822 |
Radial Aplasia, X-Linked |
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Hydrocephalus |
OMIM:312190 |
Joubert Syndrome With Ocular Defect |
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Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Anteverted nares, Abnormal pattern of re... |
ORPHA:220493 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
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Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
Superficial Siderosis |
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Arteriovenous malformation, Persistent bleeding after trauma, Abnormality of the cerebrospinal fl... |
ORPHA:247245 |
Mohr Syndrome |
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Conductive hearing impairment, Hydrocephalus, Agenesis of central incisor, Malar flattening, Broa... |
OMIM:252100 |
Arnold-Chiari Malformation Type Ii |
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Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Inspiratory stridor, Ventriculomegal... |
ORPHA:1136 |
Aase-Smith Syndrome I |
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Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology |
OMIM:147800 |
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