| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Abnormality of skin pigmentation |
OMIM:300719 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Dural Sinus Malformation |
|
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... |
ORPHA:90065 |
| Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... |
ORPHA:36382 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Long philtrum, Moyamoya phenomenon, Ischemic stroke, Coronary artery athe... |
ORPHA:280679 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Hypertension |
OMIM:182410 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation, Ascites, Pleural e... |
OMIM:617397 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... |
ORPHA:136 |
| Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
| Joubert Syndrome 14 |
|
Open mouth, Encephalocele, Intracranial hemorrhage, Ventricular septal defect, Short philtrum, Te... |
OMIM:614424 |
| Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Inflammation of the large intestine, Delayed onset bleeding, Prolon... |
ORPHA:331 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Dilated third ventricle, Lateral ventricle dilatation, Everted lower lip vermilion, Cerebral edem... |
OMIM:620371 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Open mouth, Abnormal oral cavity morphology, Hydrocephalus, Short philtrum, Pat... |
ORPHA:1516 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Prot... |
OMIM:612938 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moyamoya phenom... |
OMIM:300845 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral ... |
OMIM:177850 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... |
ORPHA:169805 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus |
ORPHA:1008 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... |
OMIM:620300 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
| Fibronectin Glomerulopathy |
|
Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Cleft palate |
ORPHA:945 |
| Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage |
ORPHA:98880 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus |
OMIM:166990 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Aortic regurgitation, Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Frontal encephalocele |
ORPHA:261102 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Dandy-Walker malformation, Encephalocele, Cleft palate |
ORPHA:217 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Hydrocephalus |
ORPHA:250994 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Narrow mouth, Mitral regurgitation, Ventricular septal defect, Hydrocephalus, Abnormal cardiac se... |
ORPHA:83473 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Ascites, Gingival overgrowth, Cardiomegaly, Hydrocephalus, High palate,... |
OMIM:269920 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal dental morpholo... |
OMIM:612582 |
| Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage, Glossiti... |
ORPHA:79284 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Right ventricular dilatation, Lateral ventricle dilatation, Anteriorly place... |
OMIM:612863 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Antenatal intra... |
ORPHA:536545 |
| Fried Syndrome |
|
Short philtrum, High palate, Hydrocephalus |
ORPHA:85335 |
| Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Hydrocephalus |
OMIM:300884 |
| Triploidy |
|
Intestinal malrotation, Intrauterine growth retardation, Narrow mouth, Hydrocephalus, Abnormal ca... |
ORPHA:3376 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Dilated cardiomyopathy, Oligohydramnios, Antenatal intracerebral hemorrhage, Ca... |
OMIM:608836 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Increased nuchal translucency, Encephalocele, Hydrocephalus, Atrial septal defe... |
ORPHA:93274 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere... |
ORPHA:449285 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Orofacial cleft, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Non-m... |
ORPHA:2476 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Intracranial hemorrhage |
OMIM:614483 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... |
OMIM:611134 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... |
ORPHA:98878 |
| Diprosopus |
|
Cleft palate, Anencephaly, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology |
ORPHA:1681 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Dandy-Walker... |
OMIM:617967 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation |
ORPHA:2481 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... |
OMIM:220210 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdural hemorrhage, Lateral vent... |
OMIM:618291 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Abnormal heart morphology, Abnormal EKG, Cherry red spot of the macula, Gingiva... |
ORPHA:93400 |
| Osteogenesis Imperfecta |
|
Carious teeth, Aortic root aneurysm, Mitral valve prolapse, Intestinal obstruction, Abnormality o... |
ORPHA:666 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Umbilical hernia, Hydrocephalus, Thin vermilion border, Patent ductus arteriosus |
ORPHA:171839 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Tr... |
ORPHA:1926 |
| Primary Angiitis Of The Central Nervous System |
|
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra... |
ORPHA:140989 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... |
ORPHA:91387 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Umbilical hernia, Abnormal heart morphology, Hydrocephalus, Atrial septal defec... |
OMIM:175700 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Dental crowding, Long philtrum, Intestinal malrotation, ... |
OMIM:609029 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Patent ductu... |
OMIM:220220 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Ventricular septal defect, Cleft palate, Truncus arteriosus |
OMIM:601355 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
| Congenital Hydrocephalus |
|
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Narrow mouth, Smo... |
ORPHA:261290 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnormal palate morphology... |
ORPHA:2701 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Umbilical hernia, Abnormal heart morphology, Microdontia, Hypodontia, Hydrocephalu... |
OMIM:601499 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, U-Shaped upper lip vermilion |
OMIM:129850 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Cleft palate |
OMIM:614120 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins |
OMIM:263400 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a... |
ORPHA:96170 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Hydrocephalus |
ORPHA:1532 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Ascites, Intrauterine growth retardation, Cardiomegaly, Hydrocephalus |
ORPHA:858 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Long philtrum, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:130720 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Polyhydramni... |
OMIM:613603 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... |
ORPHA:90068 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Fetal Gaucher Disease |
|
Stillbirth, Neonatal death, High palate, Intracranial hemorrhage, Hydrops fetalis |
ORPHA:85212 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:380 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, Open mou... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, Open mou... |
ORPHA:363958 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, O... |
ORPHA:1335 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Abnormal palate morphology |
ORPHA:251046 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Ventriculomegaly, Tetralogy o... |
ORPHA:7 |
| Pallister-Hall-Like Syndrome |
|
Microglossia, Occipital encephalocele, Median cleft upper lip, Hydrocephalus, Cleft palate |
OMIM:241800 |
| Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, Hi... |
OMIM:614846 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Intrauterine growth retardation, Increased nuchal translucency, Hydrocephalus, ... |
ORPHA:2655 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Abnormal large intestine morphology, Dental crowding, Long philtrum, Umbilical ... |
ORPHA:93932 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... |
ORPHA:169802 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Long philtrum, Umbilical hernia, Thick upper lip vermil... |
OMIM:239850 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... |
OMIM:187300 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pyloric ste... |
OMIM:218350 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Cleft upper lip, Encephalocele, Pericardial effusion, Cleft palate |
OMIM:613885 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Umbilical hernia, Abnormal heart valve ... |
OMIM:309900 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage |
ORPHA:401986 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Tarp Syndrome |
|
Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, O... |
OMIM:311900 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... |
ORPHA:465 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Pulmonary edema, Ventricular fibrillation, Increased myocardial glycog... |
OMIM:261740 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... |
OMIM:613686 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Intrauterine growth retardation, Neonatal death, Intraventricular hemorrha... |
OMIM:619055 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Intrauterine growth retardation, Dilated cardiomyopathy, Hydrocephalus |
ORPHA:272 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Thin upper lip vermilion, Short philtrum, Hyd... |
ORPHA:163979 |
| Hydrolethalus |
|
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Hydrocephalus, Po... |
ORPHA:2189 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly,... |
OMIM:313850 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... |
OMIM:610655 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
High palate, Chylothorax, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Vent... |
OMIM:264480 |
| Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Ascite... |
OMIM:269860 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... |
OMIM:225790 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Mitral valve prolapse, Hydrocephalus, High palate, Patent ductus arteriosus |
OMIM:104350 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Smooth philtrum, Intraventricular hemorrhage, Ventriculomegaly, Long philtrum |
OMIM:616430 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Macroglossia, Intrauterine growth retardation, Hydrocephalus |
ORPHA:1914 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Mirage Syndrome |
|
Intrauterine growth retardation, Petechiae, Hydrocephalus, Intracranial hemorrhage, Patent ductus... |
OMIM:617053 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Ventriculomegaly, Abnormal bleeding, Intrauterine growth ret... |
OMIM:614576 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Hydrocephalu... |
ORPHA:370959 |
| Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Diastema, Hydrocephalus, High palate, Short philtrum, Patent ductus arteriosus |
OMIM:609757 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus |
OMIM:619301 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
| Trisomy 1Q |
|
Ventriculomegaly, Increased nuchal translucency, Narrow mouth, Ventricular septal defect, Hydroce... |
ORPHA:261344 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Dextrocardia, Spina bif... |
ORPHA:2437 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula... |
OMIM:115197 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, Open mouth, Thin upper lip vermilion, Hydrocephalus, High palate |
OMIM:300558 |
| Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:147800 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Downturned corners of mouth, Absence of the... |
ORPHA:1600 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Abnormal p... |
ORPHA:974 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal atresia |
OMIM:276950 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| Congenital Syphilis |
|
Intrauterine growth retardation, Large placenta, Petechiae, Hydrocephalus, Mulberry molar, Myocar... |
ORPHA:499009 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Tooth agenesis, Narrow mouth, Hydrocephalus, Narrow pal... |
ORPHA:1555 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... |
OMIM:605714 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Venous malformati... |
ORPHA:90307 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, High palate, Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Hydranencephaly |
|
Ventriculomegaly, Dilatation of the ventricular cavity, Intrauterine growth retardation, Abnormal... |
ORPHA:2177 |
| Temple Syndrome |
|
Bifid uvula, Intrauterine growth retardation, Short philtrum, Hydrocephalus, High palate, Cleft p... |
OMIM:616222 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hernia, Cerebral hemorrhage, ... |
OMIM:616682 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... |
ORPHA:624 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica... |
ORPHA:163596 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Talon cusp, Downturned corners of mouth, Atrioventricular canal defect, Intr... |
ORPHA:2409 |
| Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
| Orofaciodigital Syndrome I |
|
Carious teeth, Cleft upper lip, Myelomeningocele, Ankyloglossia, Abnormal heart morphology, Hamar... |
OMIM:311200 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Chylothorax, Congestive heart failure, ... |
ORPHA:137667 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Intestinal malrotation, Narrow mouth, Encephalocele, Orofacial cleft, Hydroceph... |
ORPHA:2166 |
| Hellp Syndrome |
|
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... |
ORPHA:244242 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus, Dextrocardia, Cleft palate |
ORPHA:220493 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Intrauterine growth retardation, Increased CSF lysine co... |
OMIM:616034 |
| Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Intestinal malrotation, Exaggerated cupid's bow, Smooth philtrum, Hydrocephalus... |
ORPHA:238769 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Narrow mouth, Encephalocele, Hydrocephalus, Hydrops fetalis, Cleft palate |
ORPHA:1865 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... |
OMIM:314390 |
| Hypophosphatasia, Infantile |
|
Polyhydramnios, Abnormality of the dentition, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
| Aspergillosis |
|
Pleural effusion, Stroke, Eosinophilia, Abnormal esophagus morphology, Intracranial hemorrhage |
ORPHA:1163 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... |
ORPHA:79282 |
| Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage |
ORPHA:49566 |
| Diencephalic Syndrome |
|
Hydrocephalus, Everted lower lip vermilion |
ORPHA:1672 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Abnormal heart morphology, Abn... |
ORPHA:398124 |
| Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Umbilical hernia, Endocardial fibroelastosis, Gingival over... |
OMIM:607014 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
| Distal Triplication 15Q |
|
Abnormal heart morphology, Intrauterine growth retardation, Hypoplastic aortic arch, Hydrocephalu... |
ORPHA:314588 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus |
OMIM:610333 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Conical tooth, Cerebral hemorrhage |
OMIM:301081 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow mouth, Ventricular septal defect, Atrial septal defect, Pulmonary lymphangiectasia, Perior... |
OMIM:235510 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Anal stenosis, Dental crowding, Anteriorly placed anus, Umbilical hernia, Abnormal... |
OMIM:305450 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Duodenal atresia, Intrauterine growth retardation, Ventricular septal defect, C... |
OMIM:300514 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Occipital encephalocele, Hydrocephalus, Cleft palate |
OMIM:607361 |
| Band Heterotopia |
|
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:600348 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Celiac disease, Hydrocephalus |
OMIM:248000 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Neonatal death, Aganglionic megacolon, Hydrocephalus, Cleft palate |
ORPHA:85284 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Broad philtrum, Hydrocephalus, Long philtrum |
OMIM:618577 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Downturned corners of mouth, Anteriorly placed anus, Cleft upper lip, Abnormal heart morphology, ... |
OMIM:239300 |
| Meningioma |
|
Syncope, Neoplasm of the tongue, Hydrocephalus, Cerebral hemorrhage |
ORPHA:2495 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Intrauterine growth retardation, Tented upper lip vermilion, Exaggerated cupid'... |
OMIM:619833 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Anal stenosis, Natal tooth, Dental malocclusion, Dental crowding, Cleft upper lip, I... |
OMIM:300373 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Widely spaced teeth, Hydrocephalus, Atrial septal defect, Dandy-Walker mal... |
ORPHA:459061 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... |
ORPHA:251274 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Dehydration, Cardiomyopathy |
OMIM:606054 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Orofacial cleft, Hydrocephalus, Ventricular septal defect |
OMIM:615630 |
| Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac sep... |
ORPHA:2075 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Carious teeth, Delayed eruption of teeth, Cardiomyopathy, Umbilical hernia, ... |
OMIM:253200 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Holopros... |
ORPHA:77298 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Widely spaced teeth, Gingival ... |
OMIM:253220 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Mitral regurgitation, Ventricular septal defect, Hydrocephalus, Atrial septal d... |
OMIM:603387 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Natal tooth, Large placenta, Anal atresia, Patent ductus arteriosus, Dil... |
OMIM:249000 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... |
OMIM:619472 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement,... |
ORPHA:244 |
| Desmosterolosis |
|
Bifid uvula, Ventriculomegaly, Intestinal malrotation, Intrauterine growth retardation, Narrow mo... |
ORPHA:35107 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema |
ORPHA:3226 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Long philtrum, Tricuspid regurgitation, Palpebral edema, Ventricular septal de... |
ORPHA:261337 |
| Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus |
ORPHA:475 |
| Limb Body Wall Complex |
|
Cleft lip, Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Vent... |
ORPHA:2369 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida |
OMIM:207950 |
| Griscelli Syndrome |
|
Ascites, Encephalocele, Hydrocephalus, Pedal edema, Pyloric stenosis |
ORPHA:381 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Atrial septal defect... |
OMIM:616546 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Short ... |
ORPHA:740 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... |
OMIM:253800 |
| Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Abnormal heart valve morphology, Narrow mouth, Encephalocele, Anodontia, Oligod... |
ORPHA:90652 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... |
OMIM:613795 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Intrauterine growth retarda... |
ORPHA:565 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Aortic root aneurysm, Bruising susceptibility, Intrauterine growth retardati... |
OMIM:616914 |
| Monosomy 9Q22.3 |
|
Ventriculomegaly, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Cardi... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Oligohydramnios, Increased nuchal translucency, Thin upper lip vermilion, Smooth philtrum, Fetal ... |
OMIM:618480 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ventriculomegaly, Long philtrum, Ileus, Short philtrum, Smooth philtrum, Col... |
OMIM:620156 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Umbilical hernia, Oligohydramnios, Short philtrum, Hydrocephalus, Spina bifi... |
OMIM:613776 |
| Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... |
OMIM:610168 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... |
OMIM:115470 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Edema, Long philtrum, Thin upper lip vermilion, Hydrocephalus, Dandy-Walker ma... |
ORPHA:79332 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Edema, Pleural effusion, Hydrocephalus, Pericardial effusion, High palate, Dand... |
OMIM:617822 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Increased nuchal translucency, Hydrocephalus, Atrial septal defect, Polyhydramn... |
ORPHA:1860 |
| Holoprosencephaly |
|
Abnormal aortic morphology, Spinal dysraphism, Tooth agenesis, Tetralogy of Fallot, Branchial ano... |
ORPHA:2162 |
| Menkes Disease |
|
Intrauterine growth retardation, Intracranial hemorrhage |
OMIM:309400 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Arteriovenous malformation, Long philtrum, Lymphedema, Subcu... |
ORPHA:109 |
| Temple Syndrome |
|
Bifid uvula, Hydrocephalus |
ORPHA:254516 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus |
OMIM:616521 |
| Marshall-Smith Syndrome |
|
Eclabion, Ventriculomegaly, Anteriorly placed anus, Umbilical hernia, Gingival overgrowth, Irregu... |
OMIM:602535 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Hydroceph... |
ORPHA:250989 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus, Cleft palate |
ORPHA:220497 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Microglossia, Thick anterior alveolar ridges, Hydrocephalus, Spina bifida, Cleft... |
ORPHA:2839 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Cleft lip, Ventricular septal defect, Median cleft up... |
OMIM:619895 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros... |
ORPHA:2356 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Vascular dilatation, Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Abnormality of the dentition, Periodontitis, Downturned corners of mouth, ... |
ORPHA:955 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhage, Communicating hy... |
ORPHA:25 |
| Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Abnormal heart morphology, Intestinal malrotation, Situs inver... |
ORPHA:1666 |
| Myopathy, Centronuclear, X-Linked |
|
Dental malocclusion, Hydrocephalus, Polyhydramnios, High palate, Dandy-Walker malformation, Pylor... |
OMIM:310400 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Arteriovenous malformation, Cerebral ischemia, Arrhythmia, Telangiectasia of th... |
ORPHA:60040 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus, Cleft palate |
OMIM:243440 |
| Fanconi Anemia |
|
Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, A... |
ORPHA:84 |
| 22Q11.2 Deletion Syndrome |
|
Carious teeth, Narrow mouth, Ventricular septal defect, Atrial septal defect, Anal atresia, Purpu... |
ORPHA:567 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bruising susceptibility, Vascular tortuosity, Long philtrum, Intrauterine growth retardation, Hyd... |
OMIM:612940 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Long philtrum, Small placenta, Intrauterine growth retardation, Increased nu... |
OMIM:208150 |
| Edinburgh Malformation Syndrome |
|
Thin vermilion border, Narrow mouth, Hydrocephalus, Downturned corners of mouth |
ORPHA:1895 |
| Fontaine Progeroid Syndrome |
|
Narrow mouth, Protruding tongue, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Eve... |
OMIM:612289 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... |
ORPHA:99827 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Intrauterine growth retardation, Open mouth, Hydrocephalus, Pyloric stenosis |
OMIM:616355 |
| Hajdu-Cheney Syndrome |
|
Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Ventr... |
OMIM:102500 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Dee... |
OMIM:619951 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Inflammation of the large intestine, Hematochezia, Epistaxis, Abno... |
ORPHA:906 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Dehydration, Cardiomyopathy |
OMIM:251000 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Umbilical hernia, Mitral valve prolapse, Aortic aneurysm, Hydrocephalus, Hig... |
OMIM:182212 |
| Icf Syndrome |
|
Macroglossia, Communicating hydrocephalus, Protruding tongue, Umbilical hernia |
ORPHA:2268 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Dextrocardia, Patent ductus arteriosus, Pyloric stenosis |
ORPHA:1571 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
| Hec Syndrome |
|
Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Polyhydramnios, Communicating hydrocephalus |
ORPHA:2119 |
| Mucopolysaccharidosis Type 1 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Thick low... |
ORPHA:579 |
| Coach Syndrome 2 |
|
Hypertension, Hydrocephalus |
OMIM:619111 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Ventriculomegaly, Alveolar ridge overgrowth, Hydrocephal... |
OMIM:602398 |
| Tetrasomy 9P |
|
Abnormal mitral valve morphology, Dextrocardia, High palate, Downturned corners of mouth, Median ... |
ORPHA:3310 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Polyhydramnios, Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Tricuspid regur... |
ORPHA:505248 |
| Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Edema, Intracranial hemorrhage, ... |
ORPHA:324636 |
| Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Downturned corners of mouth, Long philtrum, Encephalocele, Solitary median maxi... |
OMIM:605627 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Long philtrum, Intrauterine growth retardation, Oligohydramnios, Triangular mou... |
OMIM:257300 |
| Congenital Myopathy 22A, Classic |
|
Dental crowding, Tricuspid regurgitation, Open mouth, Polyhydramnios, Neonatal death, Bradycardia... |
OMIM:620351 |
| Glycogen Storage Disease Ii |
|
Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Shortened PR interval, Ca... |
OMIM:232300 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Bruising susceptibility, Hydrocephalus, Atrial septal defect, High palate, Patent ductus arteriosus |
OMIM:618162 |
| Crouzon Syndrome |
|
Narrow palate, Hydrocephalus |
ORPHA:207 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Dental crowding, Arteriovenous malformation, Sub... |
ORPHA:394 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele, Cleft palate |
OMIM:224400 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Narrow mouth, Encephalocele, Orofacial cleft, Spina bifida, ... |
ORPHA:63259 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische... |
ORPHA:3260 |
| Tenorio Syndrome |
|
Ventriculomegaly, Recurrent aphthous stomatitis, Syncope, Raynaud phenomenon, Hydrocephalus, Macr... |
OMIM:616260 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... |
ORPHA:1041 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Median cleft palate,... |
OMIM:610828 |
| Houge-Janssens Syndrome 2 |
|
Tented upper lip vermilion, Ventriculomegaly, Open mouth, Hydrocephalus |
OMIM:616362 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, High palate, Hydrocephalus |
ORPHA:2180 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion |
ORPHA:284227 |
| Tetrasomy 5P |
|
Long philtrum, Congestive heart failure, Pulmonary arterial hypertension, Hydrocephalus, Heart mu... |
ORPHA:3309 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... |
ORPHA:363618 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:93262 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Ventriculomegaly, Umbilical hernia, Mitral regurgitation, Abnormal aortic va... |
ORPHA:2462 |
| Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta, Intraventricular hemorrhage |
OMIM:616507 |
| Aymé-Gripp Syndrome |
|
Ventriculomegaly, Long philtrum, Narrow mouth, Oligodontia, Thin upper lip vermilion, Hydrocephal... |
ORPHA:1272 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Mucopolysaccharidosis Type 3 |
|
Abnormality of the dentition, Atrioventricular block, Ventriculomegaly, Umbilical hernia, Reduced... |
ORPHA:581 |
| Basal Cell Nevus Syndrome 1 |
|
Cleft upper lip, Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Odontogenic k... |
OMIM:109400 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... |
OMIM:265380 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Ventriculomegaly, Cleft upper lip, Thick lower lip vermilion,... |
OMIM:256520 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Myocarditis, Myocardial infarction, Peda... |
ORPHA:3452 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Ventriculomegaly, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocard... |
ORPHA:228308 |
| Peters Plus Syndrome |
|
Anal atresia, Patent ductus arteriosus, Hypoplastic left heart, Thin upper lip vermilion, Cleft p... |
ORPHA:709 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Cleft upper lip, Encephalocele, Hydrocephalus, Macroglossia, Cleft palate |
OMIM:613150 |
| Peho Syndrome |
|
Ventriculomegaly, Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Peripheral edem... |
ORPHA:2836 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
| Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Dental malocclusion, Hypertrophic cardiomyopathy, Open bite, Open m... |
OMIM:115150 |
| Hurler Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Angina pectoris, Hyd... |
ORPHA:93473 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... |
OMIM:175780 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Oligohydramnios, Hydrocephalus |
OMIM:614219 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| 15Q Overgrowth Syndrome |
|
High, narrow palate, Bifid uvula, Dental crowding, Tricuspid regurgitation, Intrauterine growth r... |
ORPHA:314585 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm, Long philtrum, Narrow mouth, Mitral valve prolapse, Patent foramen ovale, C... |
OMIM:245600 |
| Riddle Syndrome |
|
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia |
ORPHA:420741 |
| Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopa... |
OMIM:309801 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... |
ORPHA:340 |
| Hyperparathyroidism, Transient Neonatal |
|
Ventriculomegaly, Umbilical hernia, Stroke, Polyhydramnios, Communicating hydrocephalus, Patent d... |
OMIM:618188 |
| Stormorken Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrha... |
OMIM:185070 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Dental malocclusion, Diastema, Short lingual frenulum, V... |
ORPHA:96121 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Downturned corners of mouth, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Hydrocephalus... |
OMIM:618590 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Tented upper lip vermilion... |
OMIM:619320 |
| Apert Syndrome |
|
Bifid uvula, Ventriculomegaly, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Hydro... |
ORPHA:87 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Intrauterine growth retardation, Hypertension, Hydrocephalus |
ORPHA:2169 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
| Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... |
ORPHA:1946 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Ventricular septal defect, Vascular dilatation, Hydrocephalus, Polyhydramnios |
OMIM:219730 |
| Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Umbilical hernia, Abnormal heart morphology, Abnormal heart valve morphology, Gin... |
ORPHA:580 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle,... |
OMIM:619575 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Ventriculomegaly, Natal tooth, Anteriorly placed anus, Gingival overgrowth, Narrow m... |
OMIM:123790 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus, Atrial septal defect, Right atrial enlargement, Co... |
OMIM:615219 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Ventriculomegaly, Orofacial cleft, Hydrocephalus, Wide mouth, Dandy-Walker malform... |
ORPHA:1647 |
| Cardiofaciocutaneous Syndrome |
|
Long philtrum, Lymphedema, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Submucou... |
ORPHA:1340 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Semilobar Holoprosencephaly |
|
Bifid uvula, Abnormal heart morphology, Median cleft upper lip, Solitary median maxillary central... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Bifid uvula, Abnormal heart morphology, Median cleft upper lip, Solitary median maxillary central... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Abnormal heart morphology, Median cleft upper lip, Solitary median maxillary central... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Bifid uvula, Abnormal heart morphology, Median cleft upper lip, Solitary median maxillary central... |
ORPHA:93924 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Narrow palate, Tooth malposition, Periodontitis, Aortic root aneurysm, Prominent veins on trunk, ... |
ORPHA:536532 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Cleft lip, Tricuspid regurgitation, Left ventricula... |
OMIM:620519 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Prolonged bleeding t... |
OMIM:618280 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Duodenal atresia, ... |
OMIM:301043 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Oligohydramnios, Hydrocephalus |
OMIM:616294 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Hydrocephalus, Encephalocele |
ORPHA:2318 |
| Thakker-Donnai Syndrome |
|
Downturned corners of mouth, Tetralogy of Fallot, Intrauterine growth retardation, Narrow mouth, ... |
ORPHA:1780 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Ventriculomegaly, Submucous cleft hard palate, Hydrocephalus, Dandy-Walker malformat... |
ORPHA:899 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Polyhydramnios, Subdural hemorrhage |
OMIM:615368 |
| Kabuki Syndrome |
|
Abnormality of the dentition, Ventriculomegaly, Lip pit, Widely spaced teeth, Abnormal dental mor... |
ORPHA:2322 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Orofaciodigital Syndrome Ii |
|
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Hydrocephalus, Bifi... |
OMIM:252100 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Abnormal dental enamel morphology, Microdontia, Hydrocephalus, Polyhydramnios, ... |
ORPHA:1812 |
| Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Carious teeth, Hydrocephalus |
ORPHA:53 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Carious teeth, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy,... |
ORPHA:90324 |
| Joubert Syndrome 2 |
|
Hydrocephalus, High palate, Enlarged fossa interpeduncularis, Encephalocele |
OMIM:608091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
| Apert Syndrome |
|
Bifid uvula, Ventriculomegaly, Dental malocclusion, Delayed eruption of teeth, Ventricular septal... |
OMIM:101200 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Sp... |
ORPHA:3412 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short philtrum, Intrauterine growth retardation, Wide mouth, Hydrocephalus |
ORPHA:163966 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Thick upper lip vermilion, Deep philtrum, Hydrocephalus, High palate |
OMIM:614969 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| Joubert Syndrome With Hepatic Defect |
|
Orofacial cleft, Occipital encephalocele, Hydrocephalus, Portal hypertension |
ORPHA:1454 |
| Raine Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Neonatal death, Microdontia, E... |
OMIM:259775 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Subvalvular aortic stenosis, Hyd... |
OMIM:613001 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Peripheral pulmonary artery stenosis, Tetralogy of Fallo... |
ORPHA:264450 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Bifid uvula, Arterial dissection, Dental malocclusion, Aortic dissection, B... |
ORPHA:284984 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Oligohydramnios, Situs inversus totalis, Encep... |
ORPHA:564 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Subarachnoid hemorrhage, Cerebral vascu... |
OMIM:243700 |
| Marden-Walker Syndrome |
|
Bifid uvula, Intrauterine growth retardation, Situs inversus totalis, Narrow mouth, Submucous cle... |
ORPHA:2461 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Hydrocephalus, Neonatal death |
OMIM:187600 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gingival overgrowth, Oligohydramnios, Abnormal intestine morphology, Tracheoesophageal fistula, H... |
ORPHA:1834 |
| Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Cleft upper lip, Tetralogy of Fallot, Ventricular septal defect, Ag... |
OMIM:154400 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic... |
OMIM:610829 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Thick upper lip vermilion, Open mouth, Tented upper lip vermilion, Hydrocephalu... |
OMIM:617281 |
| Cousin Syndrome |
|
Hydranencephaly, Microglossia, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate |
OMIM:260660 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Pulmonary arterial hypertension, Hydrocephalus, Neonatal death |
OMIM:616482 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, Carious teeth, Aortic root aneurysm, Bruising susceptibility, Long phi... |
ORPHA:536467 |
| Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Hydrocephalus, High palate, Aqueductal stenosis, Anal atresia, Cleft palate |
ORPHA:93259 |
| Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Natal tooth, Thick upper lip vermilion, Median cleft palate, Median cleft upper... |
OMIM:612651 |
| Witteveen-Kolk Syndrome |
|
High, narrow palate, Ventriculomegaly, Branchial fistula, Long philtrum, Thick lower lip vermilio... |
OMIM:613406 |
| Mend Syndrome |
|
Aortic valve stenosis, Asymmetry of the mouth, Abnormal heart morphology, Hydrocephalus, Dandy-Wa... |
ORPHA:401973 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Ventricular septal defect, Orofacial cleft, Tracheoesophageal fistula, Coarctation... |
ORPHA:268249 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Dandy-Walker malformat... |
OMIM:236670 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm,... |
OMIM:609192 |
| Superficial Siderosis |
|
Increased CSF protein concentration, Abnormal bleeding, Arteriovenous malformation, Abnormal vert... |
ORPHA:247245 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Short phi... |
OMIM:619512 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Carious teeth, Long philtrum, Abnormal heart morphology, Narrow mouth, Irregul... |
OMIM:114290 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... |
OMIM:618773 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... |
ORPHA:59315 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Vascular dilatation, Hydrocephalus, Lateral ventricle dilatation |
OMIM:602200 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus... |
OMIM:261540 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus |
OMIM:109120 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Ventricular septal defect, Arrhythmia, Atrial septal defect, An... |
OMIM:312870 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Atrial septal defect, Ventricular fibrillation, Holoprosencephaly, Pat... |
OMIM:270400 |
| Dubowitz Syndrome |
|
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Intrauterine growth retar... |
ORPHA:235 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:300863 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Hydrocephalus, Thick vermilion border, Aqueductal stenosis, Wide mouth, Dandy-W... |
OMIM:304340 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Hydrocephalus |
OMIM:312190 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Ventricular septal defect... |
OMIM:619534 |
| Sturge-Weber Syndrome |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Gingival overgrowth, Conjunctival tela... |
ORPHA:3205 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Periodontitis, Gingival overgrowth, Hydrocephalus, Gingivitis, Duodenal ulcer, ... |
OMIM:217090 |
| Stromme Syndrome |
|
Intestinal malrotation, Jejunal atresia, Hydrocephalus, Stillbirth, Wide mouth, Duodenal atresia,... |
OMIM:243605 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Narrow mouth, Orofacial cleft, Hydrocephalus, Polyhydramnios, Anal atresia |
ORPHA:3301 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate |
ORPHA:2736 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Hydrocephalus |
OMIM:259710 |
| Yunis-Varon Syndrome |
|
Broad secondary alveolar ridge, Ventricular septal defect, Atrial septal defect, High, narrow pal... |
ORPHA:3472 |
| Crouzon Syndrome |
|
High palate, Dental crowding, Hydrocephalus |
OMIM:123500 |
| Pfeiffer Syndrome |
|
High palate, Dental crowding, Hydrocephalus |
OMIM:101600 |
| Gracile Bone Dysplasia |
|
Ascites, Ankyloglossia, Hydrocephalus |
OMIM:602361 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal s... |
OMIM:600145 |
| Fanconi Anemia, Complementation Group D2 |
|
Bruising susceptibility, Abnormal heart morphology, Tracheoesophageal fistula, Esophageal atresia... |
OMIM:227646 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Complete atrioventricular canal defect, Ventricular septal defec... |
OMIM:236680 |
| Fraser Syndrome 1 |
|
Tessier cleft, Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Abnormal ... |
OMIM:219000 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Intestinal malrotation, Thin upper lip vermilion, Choroid plexus cyst, Hydrocep... |
OMIM:617866 |
| H Syndrome |
|
Cleft upper lip, Upper eyelid edema, Abnormal cardiovascular system physiology, Facial telangiect... |
ORPHA:168569 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Communicating hydrocephalus, Hydrocephalus, Microdontia |
OMIM:112240 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Atrial septal defect, Long philtrum |
OMIM:207410 |
| Alexander Disease |
|
Hypotension, Hypertension, Hydrocephalus, Aqueductal stenosis, High palate, Sudden cardiac death |
ORPHA:58 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Median pseudocleft lip, Ventricular septal defect, Bicuspid aortic val... |
OMIM:616462 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ankyloglossia, Ventricular septal defect, Bicuspid aortic valve, High palate, High, narrow palate... |
OMIM:619475 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Ventriculomegaly, Long philtrum, Ascites, Gingival overgrowth, Hydrocephalus, Stillbirth |
OMIM:259720 |
| Jacobsen Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ... |
OMIM:147791 |
| Coccidioidomycosis |
|
Vasculitis, Increased CSF protein concentration, Vasospasm, Hypoglycorrhachia, Exudative pleural ... |
ORPHA:228123 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmon... |
OMIM:620305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Arrhythmia, Hydrocephalus, Cardiomyopathy |
ORPHA:157 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation |
OMIM:614643 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... |
ORPHA:555874 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Proteus-Like Syndrome |
|
Open bite, Communicating hydrocephalus, Hydrocephalus, Venous insufficiency |
ORPHA:2969 |
| Multiple Sulfatase Deficiency |
|
Periorbital edema, Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus |
OMIM:272200 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Long philtrum, Narrow mouth, Telangiectasia of the skin, Hydrocephalus, Thin vermilion border |
OMIM:616007 |
| Costello Syndrome |
|
Ventriculomegaly, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Mitral valve prolapse, ... |
OMIM:218040 |
| Fanconi Anemia, Complementation Group R |
|
Agenesis of permanent teeth, Anal atresia, Hydrocephalus |
OMIM:617244 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid uvula, Dilated cardiomyopathy, Aortic root aneurysm, Lateral ventricle dilatation, Cleft up... |
OMIM:607872 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Hy... |
ORPHA:538 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Hydrocephalus |
ORPHA:2720 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Smooth philtrum, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachyc... |
OMIM:277400 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Umbilical hernia, Widely spaced teeth, Mitral regurgitation, Macroglossia, ... |
ORPHA:309282 |
| Baller-Gerold Syndrome |
|
Bifid uvula, Anteriorly placed anus, Abnormal heart morphology, Narrow mouth, High palate, Perine... |
OMIM:218600 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Delayed eruption of teeth, Intrauterine growth retardation, Hypodontia, Hydr... |
OMIM:101800 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Intrauterine growth retardation, Communicating hydrocephalus, ... |
ORPHA:2050 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal dental pulp morphology, Long philtrum, Abnormal heart morphology, Hypertrophic cardiomyo... |
ORPHA:363700 |
| Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Narrow mouth, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida, Di... |
OMIM:304120 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Mend Syndrome |
|
Aortic valve stenosis, Smooth philtrum, Hydrocephalus, High palate, Dandy-Walker malformation |
OMIM:300960 |
| Acute Transverse Myelitis |
|
Increased CSF protein concentration, Hypoglycorrhachia, Paralytic ileus, Subarachnoid hemorrhage,... |
ORPHA:139417 |
| Gorlin Syndrome |
|
Carious teeth, Cardiac fibroma, Orofacial cleft, Hydrocephalus, Odontogenic keratocysts of the jaw |
ORPHA:377 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hydrocephalus |
OMIM:259700 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Multiple Sulfatase Deficiency |
|
Smooth philtrum, Hydrocephalus |
ORPHA:585 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal rectum morphology, Tricuspid regurg... |
ORPHA:2556 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Oligohydramnios, Perineal fistula, Hydrocephalus, Rectal atresia, Anal atresia, Rectovaginal fistula |
ORPHA:3016 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bruising susceptibility, Premature loss of primary teeth, Abnormal pul... |
ORPHA:667 |
| Focal Dermal Hypoplasia |
|
Dental malocclusion, Delayed eruption of teeth, Anteriorly placed anus, Umbilical hernia, Myelome... |
OMIM:305600 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Hydrocephalus |
ORPHA:500055 |
| Neurofibromatosis, Type I |
|
Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension |
OMIM:162200 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Widely spaced teeth, Ankyloglossia, Intrauterine growth retardation, Oligohydramnios, ... |
OMIM:619841 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, High palate, Lateral ventricle dilatation |
ORPHA:300570 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Anasarca, Intracranial hemorrhage, Stroke-like episode |
ORPHA:86309 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Ventriculomegaly, Calcification of the aorta,... |
ORPHA:2072 |
| Functioning Gonadotropic Adenoma |
|
Ascites, Hydrocephalus |
ORPHA:91348 |
| Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth |
OMIM:617667 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Gaucher Disease |
|
Aortic valve calcification, Gingival bleeding, Ventriculomegaly, Abnormal bleeding, Cherry red sp... |
ORPHA:355 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Stroke, Ventriculomegaly, Hydrocephalus |
ORPHA:395 |
| Wolf-Hirschhorn Syndrome |
|
Craniofacial asymmetry, Malrotation of small bowel, Ventriculomegaly, Downturned corners of mouth... |
OMIM:194190 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Tetralogy of Fallot, Muscular ventricular septal defect, Intrauteri... |
OMIM:210710 |
| Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Hydrocephalus, Dehydration |
OMIM:619377 |
| Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Cleft upper lip, Polyhydramnios, Ventricular septal defect, Atrial septal defect, Fro... |
OMIM:268300 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Dandy-Walker malformation |
ORPHA:42775 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... |
ORPHA:90062 |
| Pseudoaminopterin Syndrome |
|
Patent foramen ovale, Microdontia, Orofacial cleft, Hydrocephalus, High palate, Short philtrum |
ORPHA:221120 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Deep philtrum |
ORPHA:1237 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Cerebral arteriovenous malformation |
OMIM:175050 |
| Fanconi Anemia, Complementation Group L |
|
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, An... |
OMIM:614083 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectovaginal fistula, Umbilical hernia, Tetralogy of Fallot, Ventricular septal de... |
OMIM:107480 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Thin upper lip vermilion, Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Cleft upper lip, Tetralogy of Fallot, Branchial anomaly, Right aortic ar... |
OMIM:164210 |
| Microphthalmia With Limb Anomalies |
|
Long philtrum, Cleft upper lip, Macrodontia, Venous insufficiency, Hydrocephalus, Thin vermilion ... |
ORPHA:1106 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Bifid uvula, Abnormal dental enamel morphology, Submucous cleft hard palate,... |
ORPHA:2658 |
| Kabuki Syndrome 1 |
|
Abnormality of the dentition, Anal stenosis, Anoperineal fistula, Lateral ventricle dilatation, I... |
OMIM:147920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Hydromyelia, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalu... |
OMIM:615287 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Anteriorly placed anus, Narrow mouth, Hydrocephalus, Stillbirth, Hypertension |
ORPHA:95699 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis |
OMIM:244400 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616538 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Downturned corners of mouth |
ORPHA:1064 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Cockayne Syndrome A |
|
Ventriculomegaly, Carious teeth, Dental malocclusion, Intrauterine growth retardation, Delayed er... |
OMIM:216400 |
| Achondroplasia |
|
Polyhydramnios, Hydrocephalus |
OMIM:100800 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus, Downturned corners of mouth |
ORPHA:2378 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Abnormal heart morphology, Hydrocephalus, Spina bifida, Anal atresia |
ORPHA:322 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
| Craniopharyngioma |
|
Myocardial infarction, Cerebral ischemia, Hydrocephalus |
ORPHA:54595 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Prominent scalp veins, In... |
ORPHA:3455 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Delayed eruption of teeth, Secundum atrial septal defect, Downturned corners of mout... |
OMIM:264090 |
| Oeis Complex |
|
Duplicated colon, Anteriorly placed anus, Myelomeningocele, Intestinal malrotation, Hydrocephalus... |
OMIM:258040 |
| Cockayne Syndrome B |
|
Carious teeth, Dental malocclusion, Intrauterine growth retardation, Delayed eruption of primary ... |
OMIM:133540 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus |
ORPHA:220295 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Intrauterine growth retardation, Cleft soft ... |
OMIM:619321 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hypoplastic aortic arch, Open mouth, Hydrocephalus |
ORPHA:457284 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Subependymal nodules, Inter... |
ORPHA:805 |
| Coffin-Siris Syndrome 12 |
|
Velopharyngeal insufficiency, Tetralogy of Fallot, Heart murmur, Submucous cleft hard palate, Pat... |
OMIM:619325 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Pmm2-Cdg |
|
Anasarca, Long philtrum, Lymphedema, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Thin u... |
ORPHA:79318 |
| Hypoplasminogenemia |
|
Periodontitis, Gingival overgrowth, Hydrocephalus, Gingivitis, Duodenal ulcer, Dandy-Walker malfo... |
ORPHA:722 |
| Cryptococcosis |
|
Cerebral edema, Pleural effusion, Hydrocephalus |
ORPHA:1546 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Ventriculomegaly, Communicating hydrocephalus, High palate |
OMIM:617011 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Cerebral arteriovenous malformation |
OMIM:150230 |
| Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Cleft palate, Cleft upper lip |
OMIM:273395 |
| Juvenile Polyposis Syndrome |
|
Cerebral arteriovenous malformation |
ORPHA:2929 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, Communicating hydrocephalus, High palate |
ORPHA:457359 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Neurofibromatosis Type 1 |
|
Gastrointestinal stroma tumor, Arterial stenosis, Hypertension, Hydrocephalus |
ORPHA:636 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Hydrocephalus, Everted lower lip vermilion |
OMIM:253280 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:3042 |
