Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... |
OMIM:618300 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:612650 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:616481 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... |
OMIM:618063 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Immotile spe... |
OMIM:242670 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... |
OMIM:613807 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoospermia, Hyperte... |
ORPHA:280679 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Wheezing, Abnormal axonemal organization of respiratory motile cil... |
OMIM:613808 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... |
OMIM:610852 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... |
OMIM:612518 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Abnormal central mic... |
OMIM:612649 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... |
OMIM:614874 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Otitis media |
OMIM:312863 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Intraventricular hemorrhage, Hydrocephalus, Hydrocele t... |
OMIM:613603 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Absent outer dy... |
OMIM:244400 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Ascending tubular aorta aneurysm, Otitis media, Macroorchidism,... |
ORPHA:908 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhi... |
OMIM:618801 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Decreased nasal nit... |
OMIM:615505 |
Primary Ciliary Dyskinesia |
|
Male infertility, Neonatal respiratory distress, Ventriculomegaly, Female infertility, Productive... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... |
OMIM:300991 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode,... |
OMIM:300845 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 30 |
|
Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitr... |
OMIM:616037 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Ventriculomegaly, Aspiration pneumonia |
OMIM:616430 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent... |
ORPHA:420741 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon |
ORPHA:401986 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Absent inner and out... |
OMIM:615444 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis |
OMIM:619607 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias |
ORPHA:250994 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, R... |
OMIM:614935 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm |
ORPHA:261102 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... |
OMIM:615482 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Otitis media |
OMIM:300455 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... |
ORPHA:70593 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... |
ORPHA:1163 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... |
ORPHA:97339 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Micrognathia |
ORPHA:1538 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent upper respiratory... |
ORPHA:277 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... |
OMIM:613193 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest,... |
ORPHA:99828 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Ventriculomegaly, Cerebral hemorrhage, Patent ductus arterio... |
OMIM:617397 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Acne, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis |
OMIM:613502 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Reduced progressive sperm ... |
OMIM:619608 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... |
ORPHA:397596 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus |
OMIM:300886 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Precocious puberty, Cryptorchidism, Int... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Eczema, Testicular neoplasm, Tracheomalacia, Precocious puberty, Cryptorchidism, Int... |
ORPHA:363958 |
Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ... |
ORPHA:449280 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intraventricular hemorrhage, Skin rash |
ORPHA:79284 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea |
OMIM:133100 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis |
OMIM:604571 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis |
ORPHA:1008 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Yellow Nail Syndrome |
|
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic vessels, Cough, Pulmonary a... |
ORPHA:662 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis |
OMIM:612692 |
Lig4 Syndrome |
|
Psoriasiform dermatitis, Cryptorchidism, Asthma, Telangiectasia, Micropenis, Chronic sinusitis, A... |
OMIM:606593 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas... |
ORPHA:727 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus |
OMIM:166990 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh... |
ORPHA:183 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Recurrent ot... |
OMIM:307200 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Arrhyt... |
ORPHA:2119 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Immunodeficiency 102 |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... |
OMIM:301082 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermi... |
ORPHA:8 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate |
OMIM:619055 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
Hemidystonia-Hemiatrophy Syndrome |
|
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology |
ORPHA:306741 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys... |
OMIM:616726 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... |
OMIM:243700 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali... |
ORPHA:36234 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... |
OMIM:617053 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Respiratory insufficiency... |
ORPHA:3099 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Respiratory insufficiency, Ambiguous g... |
ORPHA:1237 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Microretrognathia, Hydrocephalus |
OMIM:300884 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media |
OMIM:614379 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... |
ORPHA:140989 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly |
OMIM:618577 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... |
ORPHA:331235 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormal fallopian tube morphology, Nephritis, I... |
ORPHA:2552 |
Whim Syndrome |
|
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recu... |
ORPHA:51636 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis |
OMIM:301081 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Skin rash |
ORPHA:26 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p... |
OMIM:608710 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... |
ORPHA:90068 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Malar flattening |
OMIM:242860 |
Cyclic Neutropenia |
|
Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ... |
ORPHA:2686 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Dentinogenesis imperfecta |
OMIM:616507 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Malar flattening, Ventricul... |
OMIM:218350 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Laryngomalaci... |
ORPHA:171839 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... |
OMIM:608644 |
Immunodeficiency 32B |
|
Pneumonia, Sinusitis, Bronchiectasis |
OMIM:226990 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstruction, Vasculitis, ... |
ORPHA:900 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis |
OMIM:149700 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Choanal Atresia |
|
Respiratory distress, Subglottic stenosis, Upper airway obstruction, Laryngomalacia, Tracheomalac... |
ORPHA:137914 |
Immunodeficiency 15A |
|
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... |
OMIM:618204 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Williams-Beuren Region Duplication Syndrome |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Chronic otitis media, Vent... |
OMIM:609757 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Micrognathia, Respiratory insufficiency due to muscle weakness, Subdural hemorrhag... |
OMIM:618291 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:2701 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Acne, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia,... |
ORPHA:90795 |
Temple Syndrome |
|
Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Recurrent otitis media, Decrease... |
OMIM:616222 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Diabetic Embryopathy |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Abnormal aor... |
ORPHA:1926 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... |
ORPHA:73263 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Mandibular prognathia, Cerebral hemorrhage, Subdural hemorrhage, Respirator... |
OMIM:620278 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... |
ORPHA:228119 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Carboxypeptidase N Deficiency |
|
Allergic rhinitis |
OMIM:212070 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis m... |
OMIM:613179 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Ventriculomegaly, Apnea, Dilated cardiomyopathy, Respiratory insuf... |
OMIM:608836 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Hydrocephalus |
ORPHA:254516 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Emanuel Syndrome |
|
Broad jaw, Ventriculomegaly, Truncus arteriosus, Delayed eruption of primary teeth, Micrognathia,... |
OMIM:609029 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... |
ORPHA:49566 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, Respiratory insufficiency, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in infancy, Re... |
ORPHA:163961 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydro... |
OMIM:220220 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric... |
ORPHA:2481 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Coccidioidomycosis |
|
Respiratory distress, Cough, Morbilliform rash, Abnormality of the male genitalia, Abnormality of... |
ORPHA:228123 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:175700 |
H Syndrome |
|
Psoriasiform dermatitis, Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system phy... |
ORPHA:168569 |
Gorlin Syndrome |
|
Mandibular prognathia, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Cystic Fibrosis |
|
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... |
OMIM:219700 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Hydrocep... |
ORPHA:3452 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Hydrolethalus |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Laryngomalacia, Abnormal fallopian tube... |
ORPHA:2189 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Congestive heart failure, Hydrocephalus, Cough, Chronic otitis media, Hypertrop... |
ORPHA:579 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Chronic otitis media, Brui... |
ORPHA:3226 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Eosinophilopenia |
|
Allergic rhinitis |
OMIM:131430 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus, Micrognathia |
ORPHA:1516 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Female hypogonadism, Bronchiectasis, Abnormal spermatogen... |
OMIM:208900 |
Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye |
ORPHA:379 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
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 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Holop... |
ORPHA:3376 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough |
ORPHA:169105 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Igg4-Related Pachymeningitis |
|
Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea,... |
ORPHA:449427 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Premature ovarian insufficiency, Micrognathia, Malar prom... |
OMIM:251260 |
Immunodeficiency 20 |
|
Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s... |
OMIM:615707 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Micrognathia, Hydrocephalus, Double outlet right ventricle, Pulmonic stenosis, Aorti... |
OMIM:220210 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia, Recurrent pneumonia, Bronchiectas... |
OMIM:618282 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hypogonadotropic hypogonadism, Hydroc... |
ORPHA:91350 |
Meningioma |
|
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Progressive pulmonary function impairment, Hy... |
ORPHA:2495 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Malar flattening, Inflammato... |
ORPHA:93262 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Sinusitis, Recurrent upper respiratory tract infections |
ORPHA:583 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holopr... |
ORPHA:77298 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic cardiomyopathy, Retrognathi... |
OMIM:612938 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Malar flattenin... |
OMIM:614424 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Micropenis, Hydrocephalus, Micrognathia |
OMIM:241800 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Truncus arteriosus, Micrognathia, Cryptor... |
ORPHA:96170 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Dyspnea, Abnormal lymphatic vess... |
ORPHA:464329 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia... |
OMIM:616576 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... |
ORPHA:83471 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Inflammatory abn... |
ORPHA:238468 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Propionic Acidemia |
|
Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis |
OMIM:606054 |
Hellp Syndrome |
|
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrhage |
ORPHA:244242 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Respiratory insufficiency, Holoprosenceph... |
ORPHA:93274 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Gonadal dys... |
ORPHA:2075 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus |
OMIM:601499 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Mandibular osteomyelitis, Car... |
OMIM:259710 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Infectious encephalitis, Ischemic stroke |
ORPHA:447788 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Bresek Syndrome |
|
Cryptorchidism, Hydrocephalus, Decreased testicular size |
ORPHA:85284 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus |
OMIM:618302 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia |
OMIM:614120 |
Ciliary Dyskinesia, Primary, 20 |
|
Productive cough, Absent outer dynein arms, Pulmonary artery stenosis, Recurrent pneumonia, Bronc... |
OMIM:615067 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Skin rash, Abnormality of the menstrual cycle... |
ORPHA:330015 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Apneic episodes in infancy |
OMIM:619111 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, ... |
ORPHA:163979 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Delayed eruption of teeth, Neonatal respiratory distress, Abnormality of de... |
ORPHA:666 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Rhinitis |
ORPHA:93476 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Micrognathia, Chronic pu... |
ORPHA:125 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Micrognathia, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculome... |
OMIM:614969 |
Tempi Syndrome |
|
Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Retrograde ejaculation, Rhinitis, Orthostatic syn... |
ORPHA:230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Respiratory insufficiency |
OMIM:613153 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C... |
ORPHA:217390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... |
OMIM:102700 |
Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypoplasi... |
ORPHA:2409 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog... |
ORPHA:68 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Trisomy 1Q |
|
Microretrognathia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ambigu... |
ORPHA:261344 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Cryptorchidism, Hydrocephalus, Hypertension, Hypoplasia of t... |
ORPHA:1555 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... |
ORPHA:99827 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... |
ORPHA:340 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Micrognathia, Cryptorchidism, Hydrocephalus, Micropenis |
OMIM:619951 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Paroxysmal Hemicrania |
|
Hypertension, Rhinitis, Rhinorrhea |
ORPHA:157835 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Tenorio Syndrome |
|
Mandibular prognathia, Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Keratoconju... |
OMIM:616260 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Orchitis, Keratitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros... |
ORPHA:449563 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Hypertension |
OMIM:615862 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Respiratory failure, Hydrocephalus, Respiratory insufficiency |
OMIM:276950 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomyopathy, Pancre... |
OMIM:251000 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency |
OMIM:615368 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Encephalocele, Micrognathia, Hydrocephalus, Meningocele, Anencephaly, Spin... |
ORPHA:1908 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Mandibular osteomyelitis, Carious teeth, Osteoarthritis, Hydrocephalus, Arthritis |
ORPHA:53 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hydroceph... |
OMIM:620157 |
Cystic Fibrosis |
|
Sinusitis, Absent vas deferens, Reduced forced expiratory volume in one second, Asthma, Pneumotho... |
ORPHA:586 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Hydroc... |
ORPHA:398124 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pharyngitis, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis, Recurrent aphthous st... |
ORPHA:486 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency, Micrognathia |
ORPHA:1895 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinu... |
OMIM:615518 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Micrognathia, Subdural hemorrhage, Arterial rupture, Bruising susceptibility... |
ORPHA:536545 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Asthma, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... |
ORPHA:500055 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:2655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Allergic rhinitis, Asthma, Presyncope, Recurrent otitis media, Hashimoto thyroiditis |
OMIM:614468 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infe... |
ORPHA:2968 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Irregular menstruat... |
OMIM:616482 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Respiratory insufficiency |
ORPHA:1914 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hyd... |
ORPHA:314588 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Hypoplasia... |
ORPHA:1812 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Respiratory insufficiency |
ORPHA:207 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Hydrocephalus, Abnormality of the male ge... |
OMIM:614886 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of larynx, Hypertension, Pulmonary artery hypoplasia, Pulmo... |
OMIM:245150 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Hydrocephalus |
OMIM:615599 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Hydrocephalus |
ORPHA:163596 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Small scrotum, Hypospadias, Micrognathia, Laryngeal hypoplasia, Cryptorchidism, Hydr... |
OMIM:612651 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Reduced forced expiratory vo... |
OMIM:613686 |
Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, Erythroderma |
OMIM:256500 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... |
ORPHA:2177 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Pe... |
OMIM:217090 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Hy... |
OMIM:300514 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency |
ORPHA:1865 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Micrognathia, Hydrocephalus, Micropenis, Pleural effusion, Dandy... |
OMIM:617822 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Micrognathia, Telangiectasia, Intracranial hemorrhage, Aortic aneurysm, Arteriov... |
ORPHA:109 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Abnormality of the larynx, Vaginal atresia |
ORPHA:3301 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Excessive... |
ORPHA:319213 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R... |
ORPHA:3260 |
B4Galt1-Cdg |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Apnea |
OMIM:241500 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus, Testicular neoplasm |
ORPHA:199244 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hydrocephalus |
OMIM:269920 |
Crouzon Syndrome |
|
Mandibular prognathia, Keratitis, Hypoplasia of the maxilla, Hydrocephalus, Conjunctivitis, Dysge... |
OMIM:123500 |
Leishmaniasis |
|
Abnormal bleeding, Rhinitis |
ORPHA:507 |
Fg Syndrome Type 1 |
|
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Pulmonary arteria... |
ORPHA:93932 |
3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Micrognathia, Hydrocephalus, Pulmonic stenosi... |
ORPHA:7 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Upper airway obstruction, Hypoplastic labia majora, Malar flattening, Vaginal atre... |
OMIM:207410 |
Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility |
OMIM:185070 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Pulmon... |
OMIM:257300 |
Ichthyosis Prematurity Syndrome |
|
Neonatal asphyxia, Asthma, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Laryngeal web, ... |
ORPHA:137675 |
Trisomy 17P |
|
Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Malar flattening, Aor... |
ORPHA:261290 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Patent ductus arteriosus, Hydrocephalus, Inflammation of the large intestine, ... |
OMIM:614576 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Retrognathia, Bifid uterus |
ORPHA:2736 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Venous insufficiency, Hydrocephalus, Polycyst... |
ORPHA:2969 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Natal tooth, Hypospadias, Hydrocephalus, Hypoplastic labia m... |
OMIM:123790 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Malar flattening, Hydrocephalus, Abnormal dental enamel morphology |
ORPHA:2180 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Rhombencephalosynapsis |
|
Microretrognathia, Hydrocephalus, Abnormality of the uterus, Ventriculomegaly |
ORPHA:59315 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation |
OMIM:602200 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Carious teeth |
ORPHA:811 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Bicornuate uterus, Holoprosen... |
OMIM:264480 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... |
ORPHA:25 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Micrognathia |
OMIM:243440 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Asthma, ... |
OMIM:618131 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous stomatitis, Perioral eczema |
OMIM:613960 |
Lateral Meningocele Syndrome |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Malar flatten... |
OMIM:130720 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... |
ORPHA:722 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Hydrocephalus, Cough, Pleur... |
ORPHA:1546 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
Tetrasomy 15Q26 |
|
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker... |
OMIM:614846 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Vacterl With Hydrocephalus |
|
Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopia... |
ORPHA:3412 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... |
OMIM:615207 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Monosomy 18Q |
|
Mandibular prognathia, Left-to-right shunt, Bilateral cryptorchidism, Left aortic arch with right... |
ORPHA:1600 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... |
OMIM:232300 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Micrognathia, Retinal telangiectasia, Hydrocephalus, Trac... |
OMIM:620155 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation, Micrognathia |
OMIM:614219 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, Persistence of prim... |
ORPHA:740 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:899 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Hydrocephalus... |
OMIM:608091 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Respi... |
ORPHA:87 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Micrognathia, Hydrocephalus, Colpocephaly, Laryngomalacia, Ventriculomegaly |
OMIM:619833 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Cryp... |
ORPHA:2166 |
Desmosterolosis |
|
Micrognathia, Patent ductus arteriosus, Ambiguous genitalia, female, Hydrocephalus, Ambiguous gen... |
OMIM:602398 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Congestive heart failure, Asthma, Recurrent pneumonia, Hydrocephalus, ... |
OMIM:309900 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... |
ORPHA:60040 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Asthma, Skin rash, Allergic rhinitis |
OMIM:612714 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Asthma, Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility |
OMIM:618162 |
Alg12-Cdg |
|
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurre... |
ORPHA:79324 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Dextrocardia |
|
Abnormal EKG, Abnormal reproductive system morphology, Hydrocephalus, T-wave inversion, Congenita... |
ORPHA:1666 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Apnea, Short mandibular rami, Bilateral cryptorc... |
OMIM:602535 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Spina bifida, Micrognathia, Hydrocephalus, Ambiguous genitalia |
ORPHA:2839 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Hydr... |
OMIM:101800 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Desmosterolosis |
|
Micrognathia, Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Ambiguo... |
ORPHA:35107 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect... |
ORPHA:538 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ovotestis, Junctional ectopic tachycardia, Hydrocephalus, Hypoplas... |
OMIM:309801 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectovaginal fistula, Perineal fistula |
ORPHA:3016 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Acne, Cryptorchidism, Hydroce... |
OMIM:101200 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal... |
ORPHA:974 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Abnormal morphology of female internal genitalia, Micrognathia |
ORPHA:1834 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly |
OMIM:225790 |
Scheie Syndrome |
|
Aortic regurgitation, Rhinitis |
ORPHA:93474 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Hydrocephalus, Mitral regurgitation, Abnormality of the sphenoid sinus, ... |
ORPHA:363700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Hydrocephalus, Colpocephaly, Retrognathia, Ventriculomegaly |
OMIM:620156 |
Tetrasomy 5P |
|
Respiratory distress, Micrognathia, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmon... |
ORPHA:3309 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:1860 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Tracheomalacia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalu... |
ORPHA:96121 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Malar flattening, Tetralogy of Fallot, D... |
OMIM:612582 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Micrognathia, Hydrocephalus, Tubulointerstitial nephritis, Aortic valve stenosis, Dandy-Walker ma... |
ORPHA:459061 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... |
OMIM:610984 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... |
ORPHA:79282 |
Eosinophilic Gastroenteritis |
|
Hematochezia, Asthma, Atopic dermatitis, Allergic rhinitis |
ORPHA:2070 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Laryngomalacia, Tracheomalacia, Malar f... |
ORPHA:93259 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnormal peni... |
ORPHA:2556 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Hydrocephalus, Ventriculomegaly, Vascular ring |
OMIM:603387 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:612863 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Abnormality of the uterus, Chronic otitis media, H... |
ORPHA:567 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Chronic rhinitis |
OMIM:615225 |
Alexander Disease |
|
Sudden cardiac death, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Respiratory insuffi... |
ORPHA:58 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Thoracoabdominal Syndrome |
|
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great art... |
OMIM:313850 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Tricuspid regurgitation, Pneumonia, Carious teeth, Hydrocephalus, Recu... |
OMIM:253200 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia |
OMIM:207731 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... |
OMIM:613795 |
Pettigrew Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Calvarial osteoscler... |
OMIM:304340 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Malar flattening, Prominent superficial veins, Bruising susceptibility, Hydrocephalus |
OMIM:612940 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Mitr... |
ORPHA:2462 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Hepatitis |
ORPHA:381 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal pattern of respiration |
ORPHA:475 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Hydrocephalus |
OMIM:612284 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus, Patent ductus arteriosus, Ovarian cyst, Stroke... |
OMIM:618188 |
Superficial Siderosis |
|
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... |
ORPHA:247245 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis... |
ORPHA:565 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Con... |
OMIM:300755 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Gracile Bone Dysplasia |
|
Micropenis, Hydrocephalus |
OMIM:602361 |
Fanconi Anemia |
|
Hypospadias, Spina bifida, Abnormal preputium morphology, Micrognathia, Cryptorchidism, Patent du... |
ORPHA:84 |
Muenke Syndrome |
|
Malar flattening, Hydrocephalus |
ORPHA:53271 |
Hurler Syndrome |
|
Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Rhinitis |
ORPHA:93473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Holoprosencephal... |
OMIM:253800 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Cryptorchidism, Asthma, Hydrocephal... |
ORPHA:235 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Micrognathia, Cryptorchidism, Meningoencephalocele, Hy... |
OMIM:236670 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Retrognathia, Hypertension, Keratoconjunctivitis si... |
OMIM:616914 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hydrocephalus, Osteomyelitis, Calvarial osteosclerosis |
OMIM:259700 |
Acute Transverse Myelitis |
|
Increased CSF protein concentration, Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocy... |
ORPHA:139417 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental malocclusion, Aort... |
OMIM:182212 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Hydrocephalus, Anencephaly, Tetralogy of Fallot |
ORPHA:1335 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Stroke, Apnea, Ventriculomegaly |
ORPHA:395 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Respiratory insufficiency, Hol... |
OMIM:269860 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Tachypnea, Apnea |
ORPHA:2318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus |
OMIM:615249 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... |
ORPHA:2356 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Laryngeal atresia, Persistent left superior vena cava, Transposition of the great ... |
OMIM:314390 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Tricuspid regurgitation, Micrognathia, Hydrocephalus, M... |
ORPHA:314585 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Micrognathia, Laryngeal hypoplasia, Trismus, Patent ductus arteriosus, Aqued... |
OMIM:154400 |
Tarp Syndrome |
|
Tetralogy of Fallot, Subdural hemorrhage, Micrognathia |
OMIM:311900 |
Jacobsen Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly,... |
OMIM:147791 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Natal tooth, Occipital encephalocele, Ventriculomegaly, External genita... |
OMIM:249000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Spi... |
ORPHA:2162 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus arteriosus, Hydr... |
OMIM:102500 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Interrupted aortic arch |
ORPHA:250989 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Agenesis ... |
OMIM:610829 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Abnormal respiratory... |
ORPHA:90062 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:187600 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Hydrocephalus, Micrognathia |
OMIM:617667 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Micrognathia, Carious te... |
ORPHA:536467 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tetralogy ... |
OMIM:620305 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Micrognathia, Myelomeningocele, Hypoplastic frontal sinuses, Hydrocep... |
ORPHA:90652 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... |
OMIM:258040 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Micrognathia, Respiratory insufficiency, Normal pressure hydrocephalus, ... |
OMIM:620351 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Dilation of Virchow-Robin spaces, Micrognathia, Aqueductal stenosis, Crypt... |
OMIM:619512 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida |
OMIM:613776 |
Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus |
ORPHA:15 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Micrognathia |
ORPHA:238769 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Micrognathia |
OMIM:619320 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Micrognathia |
ORPHA:163966 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Hy... |
ORPHA:564 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Asthma, Bronchiectasis, Chro... |
OMIM:615816 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Trisomy 8P |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infec... |
ORPHA:264450 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Calcification of the aorta, Azoospermia, Pulmona... |
ORPHA:2072 |
Degcags Syndrome |
|
Tachycardia, Ventriculomegaly, Hypospadias, Pneumonia, Tracheomalacia, Micrognathia, Cryptorchidi... |
OMIM:619488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hydrocephalus, Dentinogenesis imperfecta |
OMIM:616294 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly, Micrognathia |
OMIM:617866 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hydrocephalus, Telangiectasia, Cherry red spot of the macula, Petechiae |
ORPHA:93400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Mandibular prognathia, Hypospadias, External genital hypoplasia, Abnor... |
ORPHA:2658 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Hypertrophic ... |
ORPHA:1340 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Hydrocephalus, Hypoplastic male external genitalia, Malar flatte... |
OMIM:605627 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micrognathia, Holoprosencephaly, Micropenis, Dandy-Walker malformat... |
OMIM:270400 |
Mend Syndrome |
|
Microretrognathia, Micrognathia, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walk... |
OMIM:300960 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Craniofacial osteosclerosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Malar flattening, Hydrocephalus, Micrognathia |
OMIM:224400 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... |
ORPHA:505248 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc... |
ORPHA:2306 |
Aymé-Gripp Syndrome |
|
Pericarditis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Vascular dilatation |
OMIM:219730 |
Cousin Syndrome |
|
Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydranencephaly |
OMIM:260660 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Micrognathia, Patent ductus arteri... |
OMIM:300373 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Keratoconjunctivitis sicc... |
ORPHA:90324 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Heart block, Hydrocephalus, Tubulointerstitial nephritis, Cardiomy... |
ORPHA:228308 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Cardiomyopathy, Recurrent otitis med... |
OMIM:253220 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci... |
OMIM:609192 |
Achondroplasia |
|
Respiratory distress, Hydrocephalus, Upper airway obstruction, Recurrent otitis media, Malar flat... |
OMIM:100800 |
Tetrasomy 9P |
|
Myositis, Pericarditis, Juxtaductal coarctation of the aorta, Abnormal dental enamel morphology, ... |
ORPHA:3310 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Peho Syndrome |
|
Malar flattening, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Cardiomyopathy, Arrhy... |
ORPHA:157 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Eosinophilic infiltr... |
OMIM:610168 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... |
OMIM:619895 |
Mend Syndrome |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation |
ORPHA:401973 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Hypospadias, Allergic rhinitis, Allergic conjunctivitis, Chordee... |
OMIM:176690 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Micropen... |
OMIM:227646 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus |
OMIM:101600 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Apnea, Pulmonary artery stenosis, Hydrocephalus, Chronic rhinitis, Oti... |
ORPHA:667 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ovarian neoplasm |
ORPHA:65285 |
Cockayne Syndrome A |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Irregula... |
OMIM:216400 |
Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Micrognathia |
OMIM:305450 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Prominent superficial veins, Small scrotum, Tricuspid regurgitation, Micro... |
OMIM:612289 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Apnea, Portal hypertension, Hydrocephalus, Abnormal pattern of respiration |
ORPHA:1454 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Craniopharyngioma |
|
Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Hypogonadism, Cerebral ischemia |
ORPHA:54595 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly |
OMIM:616546 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Malar flattening, Hydrocephalus |
OMIM:239300 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Malar flattening, Hydrocephalus |
OMIM:618590 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
Hajdu-Cheney Syndrome |
|
Mitral stenosis, Hypospadias, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Hyd... |
ORPHA:955 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Telangiectasia of the skin, Micrognathia, Hydrocephalus, Keratoconjunctivi... |
OMIM:616007 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Encephalocele, Hypospadias, Cryptorchidism, Myelomeningo... |
OMIM:219000 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... |
ORPHA:411696 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Coarctation ... |
ORPHA:2322 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Recurrent otitis media, Dilated third ... |
OMIM:619575 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Rectovaginal fistula, Transposition of the grea... |
ORPHA:1780 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Adenoiditis, Hydrocephalus, Atrioventricular block, Upper airway obstr... |
ORPHA:581 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia of the uterus, Ventriculom... |
ORPHA:457284 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Carious teeth, Supernumerary tooth, Myelomeningocele, Hydrocephalus, Ovarian c... |
OMIM:311200 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Micrognath... |
OMIM:114290 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Hydrocephalus, Dental malocclusion, Atopic dermatitis, Pulmonic stenosis, Hypertrop... |
OMIM:115150 |
Hurler Syndrome |
|
Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Recurrent otitis media |
OMIM:607014 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Unilateral cryptorchidism, Hypospadias, Eczema, Phimosis, Intracranial hemorrh... |
OMIM:613406 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Micrognathia, Cryptorchidism, Patent ductus arter... |
ORPHA:261337 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus, Skin rash |
ORPHA:220295 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Micrognathia, Venous insufficiency, Cryptorchidism, Hypoplasia of t... |
ORPHA:1106 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Mye... |
OMIM:306955 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central incisor, Malar flatte... |
OMIM:252100 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Micrognathia, Coarctation of aorta |
ORPHA:268249 |
Kabuki Syndrome 1 |
|
Premature thelarche, Micrognathia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Lateral v... |
OMIM:147920 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, Emphysema, Micr... |
OMIM:619472 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Hydrocephalus, Retrognathia, Ventriculomegaly |
OMIM:614643 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Microg... |
ORPHA:2050 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Hydrocephalus, Aplasia of the uterus, Micrognathia |
OMIM:614083 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly, Micrognathia |
OMIM:259720 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Eczema, Hematemesis, Recurrent pneumonia, Recurrent upper res... |
OMIM:301000 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hydrocephalus, Ovarian fibroma, Ventriculomegaly |
ORPHA:77301 |
Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus |
OMIM:619377 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Micrognathia, Absent external genitalia, Hydrocephalus, Vaginal... |
OMIM:273395 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma |
OMIM:109400 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Rhinitis |
OMIM:614941 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation |
OMIM:612301 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Micrognathia |
ORPHA:1064 |
Yunis-Varon Syndrome |
|
Hypospadias, Micrognathia, Abnormality of dental structure, Cryptorchidism, Hydrocephalus, Renova... |
ORPHA:3472 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Micrognathia, Epispadias, Hydrocephalus, Retrognathia |
ORPHA:2461 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Aortic root aneurysm, Hydrocephalus, Micrognathia |
OMIM:245600 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Hypospadias, Epistaxis, Micrognathia, Cryptor... |
OMIM:619841 |
Thalidomide Embryopathy |
|
Chronic rhinitis |
ORPHA:3312 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Aortic regurgitation, Osteomyelitis, Hypospadias, Congestive heart failure, Hydroc... |
OMIM:619475 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Eczema, Hypoplasia of the maxilla, Rhinitis, Taurodontia |
OMIM:305100 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Hydrocephalus, Malar flattening, Enamel hypoplasia |
OMIM:259775 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental m... |
OMIM:133540 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Mandibular prognathia, Communicating hydrocephalus, Pneumonia, Mitral regur... |
ORPHA:309282 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Micrognathia |
ORPHA:300570 |
Icf Syndrome |
|
Communicating hydrocephalus, Micrognathia |
ORPHA:2268 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Hypospadias, Pneumonia, Micrognath... |
OMIM:264090 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Abnormal paranasal sinus morpholo... |
ORPHA:141099 |
Gaucher Disease |
|
Abnormal bleeding, Osteomyelitis, Osteoarthritis, Cherry red spot of the macula, Hydrocephalus, H... |
ORPHA:355 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Coarctation of aorta, Hyp... |
OMIM:210710 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus, Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Micrognathia |
ORPHA:221120 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode |
ORPHA:86309 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Mitral stenosis, Calcification of the aorta |
OMIM:231005 |
Costello Syndrome |
|
Micrognathia, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy... |
OMIM:218040 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, H... |
OMIM:610828 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Micrognathia, Cryptorchidism, Hydrocephalus, Respiratory insufficiency... |
OMIM:304120 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism |
ORPHA:3042 |
Pmm2-Cdg |
|
Respiratory distress, Mandibular prognathia, Pericarditis, Hypogonadotropic hypogonadism, Angina ... |
ORPHA:79318 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus |
OMIM:104350 |
Alobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... |
ORPHA:220386 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis, Hypertension |
ORPHA:636 |
Peters Plus Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypoplasia of... |
ORPHA:709 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Malar flattening, Micropenis, Ventriculomegaly |
ORPHA:457359 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Cryptorchidism, Hydrocephalus, Myelomeningocele, Dental malocclusion, ... |
OMIM:305600 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Micrognathia |
OMIM:208150 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Recurrent upper respiratory tract infections, Peripheral arterial st... |
ORPHA:580 |
Stromme Syndrome |
|
Hydrocephalus, Micrognathia |
OMIM:243605 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasia of the uter... |
OMIM:194190 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Abnormal external genitalia, Hypospadias, Cryptorchidism, Patent du... |
OMIM:607872 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, P... |
OMIM:261540 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Natal tooth, Recurrent skin infections, Hypogonadotropic hypogonadism, Hyp... |
ORPHA:3455 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... |
OMIM:107480 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Noncommunicating hydrocephalus, Aortic aneurysm, Hypertension, Respiratory ... |
ORPHA:805 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Patent ductus ... |
OMIM:312870 |
Knobloch Syndrome |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Micrognathia, Laryngeal hypoplasia, Bifid uterus, Anencephaly, Severe hydrocephalus,... |
OMIM:236680 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Long ... |
OMIM:268300 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Malar flattening, Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Micrognathia, Cryptorchidism, Noncommunicating hydrocephalus, Heart murmur, Tetralog... |
OMIM:619325 |
Split Cord Malformation |
|
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... |
ORPHA:573278 |
Baller-Gerold Syndrome |
|
Micrognathia, Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta |
OMIM:218600 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Malar flattening, Hydrocephalus, Ventriculomegaly, Micrognathia |
OMIM:253280 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Hydro... |
OMIM:164210 |