Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Cerebral Cavernous Malformations 4 |
|
Cerebral cavernous malformation |
OMIM:619538 |
Stroke, Ischemic |
|
Stroke |
OMIM:601367 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Moyamoya Disease 2 |
|
Transient ischemic attack, Moyamoya phenomenon |
OMIM:607151 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Aneurysm, Intracranial Berry, 3 |
|
Cerebral berry aneurysm |
OMIM:609122 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Lambert Syndrome |
|
Ventricular septal defect, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, I... |
ORPHA:1296 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Dural Sinus Malformation |
|
Nausea and vomiting, Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopath... |
ORPHA:97339 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplas... |
OMIM:300049 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Hypertension, Is... |
ORPHA:280679 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral calcification, Petechiae, Cerebral hemorrhage, Microcephaly, Secundum atri... |
OMIM:617397 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor... |
OMIM:615583 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Methanol Poisoning |
|
Bilateral basal ganglia lesions, Myocardial infarction, Abdominal pain, Abnormal putamen morpholo... |
ORPHA:31825 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Short neck, Hydrocephalus, Patent ductus arteriosus... |
OMIM:612938 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Cerebral calcification, Leukoencephalopathy, Feeding difficulties, D... |
OMIM:620368 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral calcification, Cerebral hemorrhage, Diffus... |
ORPHA:464321 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Gastrostomy tube feeding in infan... |
OMIM:620278 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipid content, Knee flexion contr... |
OMIM:608836 |
Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebral hemorrhage, Basal ... |
ORPHA:542310 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Moyamoya phenomenon, Dilated ca... |
OMIM:300845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hydrocephalus, Flexion contracture, Abn... |
OMIM:613155 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... |
OMIM:614424 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Dengue Fever |
|
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, A... |
ORPHA:99828 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downtur... |
ORPHA:453499 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding difficulties in infancy, Conge... |
OMIM:618654 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Microcephaly, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abno... |
ORPHA:1131 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cerebral calcification, Cerebral hemorrhage, Cardiomegaly, Abnormal cerebral wh... |
OMIM:618886 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Gingival overg... |
OMIM:269920 |
Fetal Gaucher Disease |
|
Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Hydrops fetalis, Intracranial ... |
ORPHA:85212 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr... |
ORPHA:230839 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Trapezius muscle aplasia |
OMIM:600257 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Megalencephaly, Hydrocephalus, Thick corpus callosum, Macrocephaly, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Diarr... |
ORPHA:449285 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Intracranial hemorrhage |
ORPHA:398189 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left vent... |
OMIM:614096 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Macrocephaly, Polymicrogyri... |
OMIM:615937 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Feeding difficulties, Growt... |
ORPHA:79284 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Porencephalic cyst, Intracranial hemorrhage, Growth delay, Polymicrogyria, Ventri... |
OMIM:614483 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology |
OMIM:152900 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Hepatomegaly, Microcephaly, Hydrocephalus, Flexion contracture, Cerebral atrop... |
OMIM:300884 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Multiple joint contractures, Polyhydramnio... |
OMIM:618291 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... |
ORPHA:85446 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malo... |
OMIM:253250 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Cortical dysplasia, Hydrocephalus, Macrocephaly, Ventriculomegaly, Abnormal corpus ... |
OMIM:618709 |
Megalencephaly, Autosomal Dominant |
|
Macrocephaly, Hydrocephalus, Megalencephaly |
OMIM:155350 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hypoplasia of the musculature, Microcephaly, Polyhydramnios, Hydrocephalus, Cle... |
OMIM:225790 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short stature, Short neck, Hydrocephalus, Patent ductus arteriosus, Short philtrum, Hypoplasia of... |
ORPHA:1516 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Microcephaly, Situs inversus totalis, Hy... |
ORPHA:1908 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cerebral calcification, Microcephaly, Cardiomegaly, Hydrocephalus, Diarrhea, Intrau... |
ORPHA:858 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Dental crowding, Ankle flexion contracture, Microcephal... |
ORPHA:435938 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom... |
ORPHA:2924 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Polyhydramnios, Short neck, Narrow mouth, Hydrocephalus, Me... |
ORPHA:3376 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... |
OMIM:620183 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High palate, Atrial se... |
OMIM:612863 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se... |
OMIM:609029 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Macrocephaly, Arthrogryposis multiplex congenita, Tetralo... |
ORPHA:250994 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple... |
OMIM:602248 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Narrow mouth, Hydrocephalus, Mitral regurgitation, Abn... |
ORPHA:83473 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Mi... |
ORPHA:99742 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... |
OMIM:611134 |
Atypical Teratoid Rhabdoid Tumor |
|
Nausea and vomiting, Hydrocephalus, Cerebral calcification, Macrocephaly |
ORPHA:99966 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Microcephaly, Intraventricular hemorrhage, Death in adolescence, Increased CSF ... |
OMIM:619055 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Thickened nuchal skin fold, Gastrointestinal hemorrhage, Cerebra... |
ORPHA:758 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Emanuel Syndrome |
|
Multiple joint contractures, Redundant neck skin, Dental crowding, Congenital diaphragmatic herni... |
ORPHA:96170 |
Trisomy 17P |
|
Skeletal muscle atrophy, Short stature, Microcephaly, Short neck, Hydrocephalus, Flexion contract... |
ORPHA:261290 |
Fried Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Hydrocephalus, High palate, Short philtrum |
ORPHA:85335 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ilea... |
OMIM:243150 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palat... |
ORPHA:79076 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Ventriculomegaly, Cerebral calcification, Splenomegaly, Hydrocephalus, Cerebral atr... |
OMIM:610333 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o... |
ORPHA:370959 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Double outlet right ventricl... |
OMIM:220210 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Decreased muscle mass, Hydrocephalus, Myopathy, Macrocephaly, Dandy-Walker malformation |
OMIM:607091 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Al Amyloidosis |
|
Xerostomia, Abnormal salivary gland morphology, Hepatomegaly, Abnormal EKG, Abnormality of the ga... |
ORPHA:85443 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Deep philtrum, Orofacial ... |
OMIM:609637 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... |
OMIM:613153 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly |
ORPHA:79301 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narr... |
ORPHA:352665 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Orofacial cleft,... |
ORPHA:324416 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Gastrointe... |
ORPHA:90068 |
Diabetic Embryopathy |
|
Ventricular septal defect, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Ventriculomegaly, Camptodactyly of finger, Hydrocephalus... |
ORPHA:272 |
Hydranencephaly |
|
Ventriculomegaly, Stiff neck, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Postnat... |
ORPHA:2177 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... |
ORPHA:536545 |
Primary Angiitis Of The Central Nervous System |
|
Nausea and vomiting, Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Multifocal ... |
ORPHA:140989 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
3C Syndrome |
|
Short neck, Feeding difficulties in infancy, High, narrow palate, Orofacial cleft, Abnormal tricu... |
ORPHA:7 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Pineocytoma |
|
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... |
ORPHA:100082 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Thin upper lip vermilion, Ventricular septal defect, Cam... |
ORPHA:261330 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... |
ORPHA:2919 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:945 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp... |
OMIM:615599 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Microcephaly, Cardiomegaly, Short neck, Flexion contra... |
OMIM:616897 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Flexion contracture, Short stature, Rhizomelia, Abnormal dental enam... |
ORPHA:666 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Feeding difficulties in infancy, Deep philtrum, Gast... |
ORPHA:2162 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Microcephaly, Hypoplasi... |
ORPHA:79321 |
Tarp Syndrome |
|
Meckel diverticulum, Cerebellar vermis hypoplasia, Subdural hemorrhage, Cleft palate, Tongue nodu... |
OMIM:311900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Death in infancy, Peau d'orange, Ventricular septal defect, Abno... |
OMIM:614576 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... |
OMIM:239850 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short stature, Short neck, High, narrow palate, Hydrocephalus, Low posterior hairline, Mitral val... |
ORPHA:2183 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort... |
OMIM:615191 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Polyhydramnios, Microcephaly, Megalencephaly, Intraventricular hemorrhage,... |
OMIM:613603 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Small cerebral cortex, Colp... |
ORPHA:2185 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Edema, Protruding tongue, Hydrocephalus, Cherry red spot of the macul... |
ORPHA:93400 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Abn... |
OMIM:309900 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Short stature, Microcephaly, Hydroce... |
OMIM:241800 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Dental crowding... |
OMIM:612582 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Carious teeth, Hydrocephalus, Deep philtrum, Thick lower lip vermilion, Low poster... |
ORPHA:2701 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Oral ulcer, Hematochezia, Growth delay, Colitis, Crohn's disease |
OMIM:613148 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Smooth philtrum, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atr... |
OMIM:616430 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Telangiectasia of the skin,... |
ORPHA:679 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macrocephaly, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, High... |
OMIM:304100 |
Distal 22Q11.2 Microduplication Syndrome |
|
High palate, Biparietal narrowing, Short philtrum, Camptodactyly of toe, Long philtrum, Branchial... |
ORPHA:261337 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent duc... |
OMIM:618652 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Hydrocephalus, Abnormal heart morphology, Macrocephaly, Camptod... |
OMIM:175700 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly, Microcephaly, Feeding difficulties in ... |
OMIM:618798 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature |
OMIM:609166 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Redundant neck skin, Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holo... |
OMIM:617967 |
Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal defect, Long ph... |
ORPHA:93932 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Increased CSF lactate, Feeding di... |
OMIM:619051 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Intracranial hemorrhage, Aplasia/Hypoplasia of the cerebellum, Dan... |
ORPHA:2481 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Schizencephaly, Reduced cerebral white matter volume, Short neck, High, narrow p... |
OMIM:620156 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220220 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, High, narrow palate, Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
Masa Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:303350 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Malabso... |
ORPHA:3452 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Microcephaly, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left hea... |
OMIM:617660 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Protein-losing e... |
ORPHA:79319 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Feeding d... |
OMIM:616034 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Short stature, Intestinal malrotation, Exaggerated cupid's bow, Microcephaly, Hy... |
ORPHA:238769 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha... |
ORPHA:2070 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Submucous cleft hard palate, Feeding difficulties, Pulmonic stenosis, Atrial septal... |
OMIM:619239 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Microcephaly, Postnatal growth retardation, Abnormal cardiac ventricle mor... |
ORPHA:2306 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Microcephaly, Hiatus hern... |
OMIM:616682 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Paten... |
ORPHA:93274 |
Desmosterolosis |
|
Pachygyria, Agenesis of corpus callosum, Bifid uvula, Absent septum pellucidum, Patent ductus art... |
ORPHA:35107 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Intestinal malrotation, Facial palsy, Cleft palate, High palat... |
OMIM:113650 |
Temple Syndrome |
|
Relative macrocephaly, Short stature, Hydrocephalus, Flexion contracture, Cleft palate, Feeding d... |
OMIM:616222 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Feeding difficulties in infancy, Anorectal anomaly, Abnormal aortic a... |
ORPHA:567 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... |
OMIM:617341 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Intraute... |
OMIM:614702 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Thin upper lip vermilion, Short stature, Increased nuchal translucency, Oligohydramnios, Fetal in... |
OMIM:618480 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, High, narrow palate, Hydrocephalus, Feeding difficultie... |
OMIM:619575 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhag... |
OMIM:606054 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegal... |
ORPHA:99745 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Microcephaly, Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern, Periventricular... |
OMIM:619470 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Microcephaly, Congenital diaphragmatic hernia, High, narrow pa... |
ORPHA:2409 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Nasogastric tube feeding in infancy, Atrial septal de... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Nasogastric tube feeding in infancy, Atrial septal de... |
ORPHA:363958 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Macrocephaly, Umbilical hernia, Agenesis of corpu... |
ORPHA:380 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... |
OMIM:619302 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Basal ganglia calcification, Bloody diarrhea, Hepatomegaly, Intracereb... |
OMIM:615846 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Polyhydramnios, Microcephaly,... |
OMIM:619833 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, ... |
ORPHA:261102 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Short stature, Cleft soft palate, Dental crowding, Abnormality of the d... |
OMIM:616331 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, ... |
OMIM:618174 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, A... |
ORPHA:2869 |
Menkes Disease |
|
Short stature, Microcephaly, Intracranial hemorrhage, Death in childhood, Intrauterine growth ret... |
OMIM:309400 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Diastema, Hydrocephalus, Patent ductus arteriosus, F... |
OMIM:609757 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor... |
ORPHA:352682 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Microcephaly, Broad skull, Hy... |
ORPHA:163979 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft ha... |
ORPHA:3426 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Ventricular septal defect, Megalencephaly, Hydrocephalus, Progressive macrocepha... |
OMIM:602501 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Growth ... |
ORPHA:85284 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... |
OMIM:147800 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Neonatal death, Patent fo... |
OMIM:269860 |
Trisomy 1Q |
|
Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, High, narrow palate, Congen... |
OMIM:208150 |
Thanatophoric Dysplasia |
|
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Dispropor... |
ORPHA:2655 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Microcephaly, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Hyd... |
ORPHA:79282 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Short neck, Feeding difficulties in infancy, Nasogastric tube feeding in infancy,... |
ORPHA:508488 |
Menkes Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Microcephaly, Malabsorption, Feeding difficulti... |
ORPHA:565 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly, Atr... |
OMIM:614846 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Burkitt Lymphoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Neoplas... |
ORPHA:543 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus |
OMIM:129850 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Anorexia, Malabsorption, Periorbital edema,... |
ORPHA:33226 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Short neck, Esophageal atresia, Hydrocephalus, Paten... |
OMIM:300514 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Purpura, Everted upper lip vermilion, Petechiae, Nonimmune hydrops fetalis, Polyhyd... |
OMIM:608013 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Thin vermilion border |
ORPHA:1532 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Gastritis, Prolonged bleeding ... |
ORPHA:809 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Hypophosphatasia, Infantile |
|
Death in infancy, Anorexia, Abnormality of the dentition, Polyhydramnios, Intracranial hemorrhage... |
OMIM:241500 |
Monosomy 18Q |
|
Secundum atrial septal defect, Diffuse white matter abnormalities, Downturned corners of mouth, H... |
ORPHA:1600 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Vasc... |
ORPHA:343 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Hydrocephalus, Chronic diarr... |
OMIM:616355 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Miscarriage, Microcephaly, Short neck, Hydrocephalus, Flexio... |
ORPHA:1865 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Short stature, Microcephaly, Hydrocephalus, High palate, Open mouth, Th... |
OMIM:300558 |
Monosomy 13Q34 |
|
Epistaxis, Microcephaly, Hematochezia, Growth delay, Prolonged prothrombin time, Pulmonic stenosi... |
ORPHA:96168 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Pulmona... |
ORPHA:57777 |
Desmoid Tumor |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Malabs... |
ORPHA:873 |
Hellp Syndrome |
|
Pulmonary edema, Nausea, Abdominal pain, Cerebral hemorrhage, Prolonged prothrombin time, Vomitin... |
ORPHA:244242 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Microcephaly, Cleft upper lip, Partial absence... |
OMIM:613150 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephalus, Patent ductus arterios... |
OMIM:218350 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Death in infancy, Sudde... |
OMIM:201475 |
Lynch Syndrome |
|
Intestinal polyposis, Death in infancy, Death in early adulthood, Nausea and vomiting, Gastrointe... |
ORPHA:144 |
Hydrolethalus |
|
Absent septum pellucidum, Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly... |
ORPHA:2189 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Arrhythmia |
ORPHA:85447 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, High palate, Atrial septal defect, Patent fora... |
OMIM:615582 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Intestinal obstruction, Dyspepsia, Gastr... |
ORPHA:85450 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Cerebral calcification, Severe short stature, Facial palsy, High, narr... |
ORPHA:2780 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus c... |
OMIM:603387 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Intracranial hemorrhage, Intramuscular h... |
ORPHA:324636 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Feeding difficulties, Microcephaly |
ORPHA:26 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Short stature, Intestinal malrotation, Microcephaly, V... |
OMIM:614701 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Cleft upper lip, Complete a... |
OMIM:264480 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myocardial contractility, Hypov... |
ORPHA:158687 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Low posterior hairline, D... |
OMIM:618779 |
Temple Syndrome |
|
Relative macrocephaly, Short stature, Feeding difficulties in infancy, Postnatal growth retardati... |
ORPHA:254516 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypodysplasia of the corpus callosum, Short neck, Feeding difficulties in infancy, Atrial septal ... |
OMIM:257300 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cerebral calcification, Focal hypointensity of cerebral white matter... |
ORPHA:247691 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Non-midline cleft lip, Cleft palate... |
ORPHA:2075 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Short stature, Abnormal large int... |
ORPHA:109 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Abdominal pain, Periorbital edema, Chronic d... |
OMIM:142680 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Polyhydramnios, Flexion contracture, Intrauterin... |
ORPHA:2671 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Increased head circumference, Gastroesophagea... |
OMIM:300967 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ... |
OMIM:601005 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Abdom... |
ORPHA:729 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... |
ORPHA:131 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Diarrhea, Dehydration, Cardiomyopathy, Myop... |
OMIM:212140 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Abdominal pain, Splenomegaly, Congestive heart failure, Di... |
OMIM:615895 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
Alexander Disease |
|
Death in infancy, Hydrocephalus, Progressive macrocephaly, Death in adolescence, Death in childho... |
OMIM:203450 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... |
ORPHA:397951 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Cleft palate, ... |
ORPHA:459061 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... |
ORPHA:25 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus, Abnormal heart morphology, Short philtrum, Everted lower lip vermil... |
OMIM:601499 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Porencephalic cyst, Anteriorly placed anus, Glossoptosis, High palate, Gastroesop... |
OMIM:117650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th... |
OMIM:253800 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Macroglossia, Intrauterine growth retardation |
ORPHA:1914 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Malabsorption, Anorexia, Diarrh... |
ORPHA:98850 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Short neck, Partial agenesis of the corpus callosum... |
OMIM:305450 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... |
ORPHA:1335 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology,... |
ORPHA:171839 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Short neck, Patent ductus arteriosus, Low posterio... |
ORPHA:1517 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft hard p... |
ORPHA:3201 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Diastasis recti, Short statu... |
OMIM:253220 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Microcephaly, Velopharyngeal insufficiency, Submucous c... |
OMIM:192430 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, H... |
OMIM:617022 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Heart block, Splenomegaly, Basal ganglia ... |
ORPHA:398124 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Facia... |
OMIM:256550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension |
OMIM:619064 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Lymphedema, Constipation, Cerebellar hypoplasia, Gastroesophageal reflux, Thick ver... |
ORPHA:3137 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature, Cleft palate |
ORPHA:50815 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Ventricular septal defect, Bicuspid ao... |
ORPHA:457279 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Short stature, Short neck, Splenomegaly, Hydrocephalus, Flexi... |
OMIM:607014 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Hydrocephalus, ... |
ORPHA:220493 |
Hardikar Syndrome |
|
Vomiting, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Short stature, Cleft soft pal... |
OMIM:301068 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur... |
ORPHA:324410 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short stature, Short neck, Cardiomegaly, Postnatal growth retardation, Deep phi... |
OMIM:613320 |
Mirage Syndrome |
|
Short stature, Patent ductus arteriosus, Esophageal stricture, Hydrocephalus, Chronic diarrhea, I... |
OMIM:617053 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Bicuspid aortic valve, Cleft soft palate, Short stature, Abnormality of th... |
OMIM:618529 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short stature, Short nec... |
OMIM:130720 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio... |
OMIM:614921 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Aplasia/Hypoplasia of the corpus ca... |
OMIM:617822 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Vertebral artery hypoplasia, Short stature, Dextrocardia, Unilateral vertebral art... |
OMIM:613686 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Short stature, Ha... |
OMIM:311200 |
Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Polyhydramnios, Pyloric stenosis, Hydrocephalus, Flexion contracture, Dental malocc... |
OMIM:310400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Polyhydramnios, Microcephaly, Hydrocephalus, Cleft palate,... |
ORPHA:2166 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Ventriculomegaly, Left-to-right shunt, Abnormality of the dentition, Carious tee... |
ORPHA:363444 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Facial palsy, Cleft palate |
ORPHA:52429 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anence... |
OMIM:313850 |
Cerebral Visual Impairment |
|
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Abnormal cerebral w... |
ORPHA:447788 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Intracrania... |
ORPHA:3226 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... |
OMIM:306955 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Microcephaly, Cardiomegaly, Gastrointestinal dysmotility, Cerebral atro... |
ORPHA:391428 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Spina bifida, Microcephaly, Short neck, High, narrow palate, Hydrocepha... |
OMIM:613776 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
B4Galt1-Cdg |
|
Abnormal bleeding, Hepatomegaly, Thin upper lip vermilion, Redundant neck skin, Edema, Splenomega... |
ORPHA:79332 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Short neck, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting... |
OMIM:115150 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... |
OMIM:301043 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, ... |
ORPHA:899 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Partial agenesis of the corpus callosum, High palate, Gastroesop... |
OMIM:300373 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Esophageal var... |
ORPHA:64743 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Muscular dystrophy, Ventriculomegaly |
OMIM:614830 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypo... |
ORPHA:79456 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties,... |
OMIM:618183 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myel... |
ORPHA:2437 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the pons, Microcephaly, De... |
OMIM:618143 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Decreased muscle mass, Prominent superficial veins, Microcephaly, Hydrocephalus, High palate, Gas... |
OMIM:612940 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Cardiomegaly, Perimembranous ventricular septal defect, Periventricular leukomalaci... |
OMIM:619170 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Microcep... |
OMIM:619895 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Nausea, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Palpitations, Pos... |
ORPHA:29072 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Abnormal globus pallidus morphology, Cerebellar hemorrhage, Dehydration, Cardiomyop... |
OMIM:251000 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture... |
OMIM:615368 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walker ... |
OMIM:249000 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Trans... |
OMIM:314390 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept... |
ORPHA:2260 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Ventriculomegaly, Tricuspid regurgitation, Bicuspid aortic valve, Ventricul... |
OMIM:620066 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain,... |
ORPHA:73263 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrocephalus, Congestive heart failure... |
ORPHA:163596 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Smooth philtrum |
OMIM:614526 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Scapular winging, Feeding difficulties in infancy, High, narrow pa... |
OMIM:616914 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... |
ORPHA:91139 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Dys... |
ORPHA:163961 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... |
ORPHA:329971 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Short stature, Carious teeth, S... |
OMIM:253200 |
Tetrasomy 5P |
|
Pericallosal lipoma, Redundant neck skin, Short neck, Postnatal growth retardation, Congestive he... |
ORPHA:3309 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebra... |
ORPHA:228308 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cl... |
OMIM:619227 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Splenomegal... |
OMIM:615630 |
Congenital Factor Xi Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Thin upper lip vermilion, Short stature, Facial palsy, Polyhydramnio... |
OMIM:620186 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Commissural lip pit |
OMIM:608389 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Congenital diaphragmatic hernia, Short neck, A... |
OMIM:616546 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Polyhydramnios, Cent... |
OMIM:620351 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Macrocephaly, Polymicr... |
OMIM:600348 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard palate, High... |
OMIM:619314 |
Desmosterolosis |
|
Relative macrocephaly, Rhizomelia, Microcephaly, Partial agenesis of the corpus callosum, Hydroce... |
OMIM:602398 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Pericarditis, Myositis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia |
OMIM:276950 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Anorexia, Abnormal left ventricular function, Ecchymosis, Intern... |
ORPHA:99827 |
Peho Syndrome |
|
Palpebral edema, Microcephaly, Hydrocephalus, Flexion contracture, Porencephalic cyst, Gingival o... |
ORPHA:2836 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Diarrhea, Myopathy, Distal arthrogryposis, V... |
ORPHA:42 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Cardiac diverticulum, Malabsorption, Abdominal ... |
ORPHA:440437 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Hurler Syndrome |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Camptodactyly of finger, Angina ... |
ORPHA:93473 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Cleft palate |
ORPHA:107 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Situs inversus totalis, Feedi... |
ORPHA:475 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short ne... |
OMIM:300855 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd... |
OMIM:239300 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Patent ductu... |
OMIM:614557 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Vasculitis, Gastrointest... |
ORPHA:91138 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Bifid uvul... |
ORPHA:2461 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Intracranial hemorrhage, High pal... |
ORPHA:740 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Narr... |
ORPHA:77301 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasi... |
OMIM:235200 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Dental crowding, Anorexia, Pulmonary embolism, Esophag... |
ORPHA:394 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal palate morphology, Short neck |
ORPHA:251046 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdom... |
OMIM:612289 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosple... |
ORPHA:464329 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... |
OMIM:617713 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short stature, Cleft soft palate, Short neck, Microcephaly, Patent ductus arteriosus, Feeding dif... |
ORPHA:2282 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:861 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Short stature, Short ... |
ORPHA:1340 |
Alobar Holoprosencephaly |
|
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Flexion contracture, High palate, Vomiting, Gastroesophageal reflux, Agenesis of corpus callosum,... |
ORPHA:220386 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Distal Triplication 15Q |
|
Hydrocephalus, Flexion contracture, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal h... |
ORPHA:314588 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:607361 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Wide mouth, Branchial anomaly, Gastroesophageal reflux, Constipation, D... |
ORPHA:466950 |
Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Postnatal growth retardation, Hydrocephalus, Feeding difficulties, Abnormal cerebra... |
ORPHA:2169 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Facial hypotonia, Microcephaly, Hydrocephalus, Chronic constipation, ... |
OMIM:616362 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Chronic diarrhea, H... |
OMIM:268800 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... |
ORPHA:99772 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Posterior fossa cyst at the fourth... |
ORPHA:2356 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio... |
ORPHA:308552 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Short stature, Dental crowding, Microcephaly, Protruding tongue, Submucous clef... |
OMIM:618106 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... |
OMIM:620107 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle di... |
ORPHA:293725 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl... |
ORPHA:99947 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness, Increas... |
OMIM:266500 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Death in childhood, Progressive alveolar ridge hypertropy, Hepatomegaly, Gingival o... |
OMIM:252500 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorr... |
ORPHA:3260 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220497 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Feeding difficulties, Cervical myelopathy, Dysphag... |
OMIM:207950 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Paralytic ileus, ... |
OMIM:276700 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Growth de... |
OMIM:614886 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... |
OMIM:309801 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... |
OMIM:619103 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum mor... |
ORPHA:250989 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Feeding difficulties, Broad philtrum, Hypoplasia of the corpus callosum, Long phil... |
OMIM:618577 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Facial hypotonia, Short stature, Cardiomegaly, Microcephaly, Feeding difficulti... |
ORPHA:97297 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Rhabdomyolysis, Stroke-like episode |
ORPHA:79095 |
Alexander Disease Type I |
|
Hydrocephalus, Progressive macrocephaly, Abnormal cerebral white matter morphology, Vomiting, Dys... |
ORPHA:363717 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Optic nerve hypoplasia, Microcephaly, Submucous cleft hard palate, Flexion contractur... |
OMIM:222765 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Short stature, Malabsorption, Splenomegaly, Hydrocephalus, Conge... |
ORPHA:579 |
Meningioma |
|
Nausea and vomiting, Facial palsy, Cerebral hemorrhage, Hydrocephalus, Upper limb muscle weakness... |
ORPHA:2495 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Myop... |
ORPHA:3463 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:588 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Pyloric stenosis, Pedal ... |
ORPHA:381 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Short stature, Camptodactyly of finger, Short neck, Submucous cleft hard p... |
OMIM:114300 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Deep philtrum, ... |
OMIM:614969 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Anorectal anomaly, Tra... |
ORPHA:1834 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Short neck, Microcephaly, Hydrocephalus, Flexion contracture, Disproportionate short-trunk short ... |
OMIM:613330 |
Hemophilia B |
|
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... |
OMIM:192445 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass, Short stature, Dentinogenesis imperfecta |
OMIM:616507 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Short stature, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ve... |
OMIM:617412 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke, Abnormal esophagus morphology |
ORPHA:1163 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature, Camptodactyly of finger, Cleft palate |
ORPHA:2635 |
Isolated Childhood Apraxia Of Speech |
|
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Feeding difficulties, Abnormal... |
ORPHA:209908 |
Behçet Disease |
|
Aortic regurgitation, Nausea and vomiting, Pericarditis, Myositis, Gastrointestinal hemorrhage, M... |
ORPHA:117 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Malabsorption, Protruding tongue, Macroglossia, Macro... |
ORPHA:2268 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Oligohydramnios, Cerebral atrophy, Lateral ventricle dilatation, Cer... |
OMIM:614219 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Abdominal pain, Microcephaly, Intraventricular hemorr... |
ORPHA:420741 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Short ne... |
ORPHA:1780 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Nasogastric tube feeding in infancy, Hypoplasia of the brainstem, Gastroesophageal reflux, Widely... |
ORPHA:268261 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... |
ORPHA:199306 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Short neck, Downturned corners of mouth, High palate, Short philtrum, ... |
ORPHA:3310 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepa... |
OMIM:613812 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheoes... |
ORPHA:77298 |
Zttk Syndrome |
|
Feeding difficulties in infancy, Flexion contracture, Downturned corners of mouth, High palate, S... |
OMIM:617140 |
Neuroendocrine Tumor Of Stomach |
|
Abnormal pulmonary valve cusp morphology, Poor appetite, Anorexia, Lack of bowel sounds, Bloody d... |
ORPHA:100075 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting |
OMIM:600649 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia |
OMIM:104350 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Wide mouth, Macroglossia, Syncope, Gastroesophageal reflux, Re... |
OMIM:616260 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Feeding difficulties in infancy, High, narrow pa... |
OMIM:613406 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Sudden cardiac death, My... |
ORPHA:36426 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Thin upper lip vermilion, Short stature, Microcephaly, Subdural hemorrhage, Skeletal muscle hyper... |
OMIM:619714 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, High palate, Short philtrum, Death in ... |
OMIM:602535 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Feeding difficulties in infancy, Hypoplasia of the brainstem, Congenital... |
OMIM:236670 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopat... |
OMIM:185070 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel ... |
ORPHA:100080 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Agyria, Optic nerve hypoplasia, Type II lissen... |
OMIM:614643 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Swollen lip, Neonatal death, Patent foramen ovale, Agenesis of corpus... |
OMIM:256520 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Flexion contracture, Feeding difficulties, Hypoplasia of the brainst... |
OMIM:615249 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Dextrocardia |
|
Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnorm... |
ORPHA:1666 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus, Hypertension, Tooth agenesis,... |
ORPHA:1555 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Dental malocclusion, Narrow palate,... |
OMIM:182212 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplified gyral pattern, Downturn... |
ORPHA:500150 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Cerebral calcification, Short stature, Protruding tongue, Microcep... |
OMIM:259775 |
Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Cleft soft palate, Polyhydramnios, Nasogastric tube feeding in infancy, Dis... |
ORPHA:93316 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Polyhydramni... |
OMIM:300990 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Sudden cardiac death, Ma... |
ORPHA:537 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal ... |
OMIM:605627 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Feeding difficulties in infancy, Partial agenesis of the corpus cal... |
ORPHA:300570 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Short stature, Microcephaly,... |
ORPHA:124 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Rhizomelia, Short stature, Knee flexion contracture |
ORPHA:166016 |
Mogs-Cdg |
|
Hepatomegaly, Generalized edema, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosple... |
ORPHA:79330 |
Primary Ciliary Dyskinesia |
|
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Inte... |
ORPHA:244 |
Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Increased nuchal translucency, Hydrocephalus, Patent ductus arteriosus, Macroceph... |
ORPHA:1860 |
Fanconi Anemia |
|
High palate, Atrial septal defect, Short stature, Spina bifida, Aplasia/Hypoplasia of the uvula, ... |
ORPHA:84 |
15Q Overgrowth Syndrome |
|
Smooth philtrum, Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid r... |
ORPHA:314585 |
Peters Plus Syndrome |
|
Polyhydramnios, Short neck, Feeding difficulties in infancy, Bicuspid pulmonary valve, Abnormal p... |
ORPHA:709 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Growth... |
ORPHA:250999 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... |
ORPHA:2369 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Congenital diaphragmatic hernia, Spina bifida, Polyhydramnios, Myelome... |
ORPHA:63259 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Cerebral white matter atrophy, Mild postnatal growth retardation, Basal ... |
ORPHA:90324 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Intestinal obstruction, Recurrent... |
ORPHA:900 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Microcephaly, Alobar holoprosencep... |
OMIM:610828 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Diarrhea, Episodic vomiting, Stroke-like episode, Cardiomyopathy, Constipation, Inc... |
OMIM:105210 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Petechiae |
OMIM:603909 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydro... |
ORPHA:2839 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, ... |
OMIM:245600 |
Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Short neck, Hydrocephalus, Temporal lobe dysplasia, Disproportionate short-limb s... |
OMIM:187600 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Diarrhea, Capillary leak, Int... |
ORPHA:340 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Periventricular leukomalacia, Microcephaly |
OMIM:618302 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Short stature, Microcephaly, Feeding difficulties in infancy, Submucous cleft hard palate, Flexio... |
OMIM:618891 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Cerebral calcification, Tricuspid regurgitation, Short neck, Congestive heart failur... |
ORPHA:505248 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Wide mouth, Cerebral ischemia, Arteriovenous malformat... |
ORPHA:60040 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Atrioventricular block, Hepatomegaly, Constipation, Thick verm... |
ORPHA:581 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... |
OMIM:300166 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy, Polyhydramnios, Endocardial fibroelastosis |
OMIM:600559 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:187900 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Camptodactyly of finger, Microcephaly, High, narrow palate, Aplasia/... |
ORPHA:2462 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Partial agenesis of the corpus callosum, Gastrointesti... |
OMIM:270400 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomeningocele, Hydroc... |
ORPHA:90652 |
Hajdu-Cheney Syndrome |
|
Short neck, Downturned corners of mouth, Periodontitis, Long philtrum, Hepatomegaly, Short statur... |
ORPHA:955 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin... |
ORPHA:70475 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Short neck, Hydrocephalus, Cleft palate, Neonatal short-limb... |
OMIM:224400 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Short stature, Rhizomelia, Hydrocephalus, Wide mouth, Short philtrum, Cerebella... |
ORPHA:163966 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Multiple joint contractures, Abnormal atrioventricular conn... |
ORPHA:264450 |
Myhre Syndrome |
|
Severe short stature, Submucous cleft hard palate, Cleft palate, Gingival cleft, Skeletal muscle ... |
ORPHA:2588 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuos... |
OMIM:175780 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Short stature, Facial palsy, Microcephaly, Splenomegaly, Diffuse white matter abnor... |
OMIM:259720 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... |
ORPHA:90291 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Hydrocephalus, Patent ductus arteriosus, Knee flexion contracture,... |
OMIM:618162 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peptic ulcer, Edema, Malabsorption, Splenomegaly, Join... |
ORPHA:2796 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Growth delay, Eosinophilic infiltration of the esop... |
OMIM:243700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Feeding difficulties in infancy, Abnormal internal carotid artery morphology, Flexi... |
ORPHA:365 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea... |
OMIM:208000 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Lo... |
ORPHA:2463 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly, Cerebral atrophy, Increased CS... |
OMIM:620306 |
Kabuki Syndrome |
|
Short stature, Abnormal dental morphology, Congenital diaphragmatic hernia, Microcephaly, Lip pit... |
ORPHA:2322 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Thin corpus callosum, Cerebral atrophy |
OMIM:616521 |
Superficial Siderosis |
|
Increased CSF protein concentration, Enlarged sylvian cistern, Abnormal bleeding, Abnormal cerebr... |
ORPHA:247245 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... |
ORPHA:2751 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Simplified gyral pattern, Hi... |
ORPHA:96121 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Bowel incontinence, Megalencephaly, Congestive heart failure, H... |
OMIM:616482 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Abdom... |
ORPHA:465508 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal... |
OMIM:620157 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Mend Syndrome |
|
Thickened nuchal skin fold, Short stature, Asymmetry of the mouth, Long neck, Hydrocephalus, Clef... |
ORPHA:401973 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Right bu... |
OMIM:618590 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Feeding... |
ORPHA:1454 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroesophageal ref... |
OMIM:619950 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Gastrointestinal infarctions, Arteriovenous malform... |
ORPHA:1059 |
Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Short stature, Abnormality of skeletal muscle fibe... |
ORPHA:168572 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Fetal ascites, Ascending aorta hypoplasia, Deep philtrum, Flexion contracture, K... |
OMIM:619503 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Hepatomegaly, Short stature, Ch... |
ORPHA:580 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad se... |
ORPHA:3472 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Flexion contra... |
OMIM:210710 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Rhabdomyolysis... |
ORPHA:157 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Lymphedema, Hydrocephalus, Chylopericardium, Chyloth... |
ORPHA:538 |
Ppoma |
|
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... |
ORPHA:97278 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Short stature, Microcephaly, Dilated third ... |
ORPHA:500055 |
Apert Syndrome |
|
Delayed eruption of teeth, Absent septum pellucidum, Feeding difficulties in infancy, Esophageal ... |
ORPHA:87 |
Glucagonoma |
|
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Anorexia,... |
ORPHA:97280 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardi... |
ORPHA:1272 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Absent septum pellucidum,... |
OMIM:101200 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Hydrocephalus, High palate, Macrocephaly, Dentinogen... |
OMIM:616294 |
Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia |
ORPHA:2119 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate, Abnormal dental enamel morphology, Macrocephaly |
ORPHA:2180 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Redundant neck skin, Feeding difficulties in infancy, Hydrocephalus, Gingival overgr... |
OMIM:123790 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Alexander Disease |
|
Nausea and vomiting, Cerebral calcification, Facial palsy, Sudden cardiac death, Megalencephaly, ... |
ORPHA:58 |
Diencephalic Syndrome |
|
Hydrocephalus, Everted lower lip vermilion |
ORPHA:1672 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Diarrhea, Feeding difficulties, Arrhythmia |
OMIM:255120 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, H... |
OMIM:619321 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Microcephaly, Hypoplasia of the pons, ... |
OMIM:619512 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Noncommunicating hydroce... |
OMIM:619320 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Polyhydramnios, Feeding difficulties in infancy, Hydrocephalus... |
ORPHA:1812 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... |
OMIM:109400 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Polyhydramnios, Short neck, Feeding difficulties in infancy, Anteriorly p... |
OMIM:261540 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Short stature, Malabsorption, Microcephaly, Postnatal g... |
ORPHA:235 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Short neck, Microcephaly, Submucous cleft ... |
ORPHA:178303 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Microcephaly, Submucous cleft hard palate, Feeding difficulties, Birth length less... |
OMIM:613805 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Polyhydramnios, Patent ductus arteriosus, Submucous cleft ha... |
OMIM:275210 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... |
ORPHA:2753 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Vipoma |
|
Nausea and vomiting, Hepatomegaly, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, De... |
ORPHA:97282 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Functional abnormality of the gastrointestinal tract, Cere... |
ORPHA:2770 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Secundum ... |
OMIM:619951 |
Albers-Schönberg Osteopetrosis |
|
Short stature, Facial palsy, Abnormality of the dentition, Carious teeth, Hydrocephalus, Macrocep... |
ORPHA:53 |
Mowat-Wilson Syndrome |
|
Large basal ganglia, Vomiting, Widely spaced teeth, Atrial septal defect, Agenesis of corpus call... |
OMIM:235730 |
Grfoma |
|
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... |
ORPHA:97261 |
Medulloblastoma |
|
Nausea and vomiting, Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Progres... |
ORPHA:616 |
Cousin Syndrome |
|
Rhizomelia, Short neck, Hydrocephalus, Disproportionate short stature, Alveolar ridge overgrowth,... |
OMIM:260660 |
Crouzon Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Narrow palate |
ORPHA:207 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Low posterior hairline, Downturned corners of mouth, Thin vermilion border, Narrow... |
ORPHA:1895 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Ventriculomegaly, Thick upper lip vermilion, Median cleft lip, Absent septum pelluci... |
OMIM:612651 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Increased CSF protein concentration, Hydrocephalus, Vomiting |
OMIM:245200 |
Schilbach-Rott Syndrome |
|
Short stature, Microcephaly, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short stature, Short neck, Hydrocephalus, Pate... |
OMIM:102500 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Aqueductal ... |
OMIM:304340 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Facial palsy, Microcephaly, Malrotation of colon, Pyloric stenosis... |
OMIM:113620 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Short stature, Bifid uvula |
OMIM:601492 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, ... |
ORPHA:1662 |
Somatostatinoma |
|
Nausea and vomiting, Hepatomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, Poor appe... |
ORPHA:97283 |
Hydrolethalus Syndrome 1 |
|
Broad neck, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Abnormal corti... |
OMIM:236680 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Absent extraocular muscl... |
OMIM:109120 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Tented upper lip vermilio... |
OMIM:617281 |
Jacobsen Syndrome |
|
Ventricular septal defect, Microcephaly, Short neck, Pyloric stenosis, Hydrocephalus, Flexion con... |
OMIM:147791 |
Papillary Tumor Of The Pineal Region |
|
Nausea and vomiting, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Edema, Malabsorption, Celiac dise... |
ORPHA:90363 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus, Vomiting, Nausea |
ORPHA:2086 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Orofacial cleft, Aplasia/Hypopl... |
ORPHA:1647 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical dysplasia, Porencephali... |
OMIM:613001 |
Costello Syndrome |
|
Redundant neck skin, Polyhydramnios, Short neck, High palate, Atrial septal defect, Lymphangiecta... |
OMIM:218040 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp... |
OMIM:602782 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Periventricular cysts, Orofacial cleft, Downturned corners of mouth, Gastr... |
OMIM:194190 |
Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Edema, Angioedema, Va... |
ORPHA:761 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Mohr Syndrome |
|
Median cleft lip, Short stature, Accessory oral frenulum, Hydrocephalus, Porencephalic cyst, Clef... |
OMIM:252100 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypopl... |
ORPHA:2318 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Macrocephaly, Intrauterine growth retardation |
OMIM:300863 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Microcephaly, Flexion contracture, Feeding difficulties, Int... |
ORPHA:86309 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula |
OMIM:108300 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Microcephaly, Submucous cleft hard palate, Downturned corn... |
OMIM:619680 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, ... |
OMIM:154400 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Short stature, Microcephaly, Feeding difficulties in infancy, Postnata... |
OMIM:223370 |
H Syndrome |
|
Short stature, Malabsorption, Cleft upper lip, Hydrocephalus, Abnormal cardiovascular system phys... |
ORPHA:168569 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Short philtrum, Dysphag... |
OMIM:612292 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Ventriculomegaly, Es... |
ORPHA:59315 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... |
ORPHA:100050 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Dextrocardia, Intestinal malrotation, Hypoplasia of the pons, Aqued... |
OMIM:620305 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesoph... |
OMIM:607872 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper... |
OMIM:164210 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Thick lower lip ver... |
OMIM:230000 |
L1 Syndrome |
|
Nausea and vomiting, Skeletal muscle atrophy, Aganglionic megacolon, Aqueductal stenosis, Hydroce... |
ORPHA:275543 |
Branchioskeletogenital Syndrome |
|
Microcephaly, Short neck, Abnormality of the dentition, Carious teeth, Submucous cleft hard palat... |
ORPHA:1299 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Hy... |
OMIM:608091 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Microce... |
ORPHA:3047 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Esophageal varix, Dehydration, Hype... |
OMIM:263200 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal palate morphology |
ORPHA:93262 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Gastroin... |
ORPHA:2152 |
Aicardi-Goutières Syndrome |
|
Myositis, Cerebral calcification, Multiple joint contractures, Short stature, Cardiomegaly, Micro... |
ORPHA:51 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
Central Neurocytoma |
|
Nausea and vomiting, Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Meckel Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the tongue, Microcephaly, Situs inversus totalis, Hydrocepha... |
ORPHA:564 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramnios, Atrial septal defe... |
OMIM:312870 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Hydrocephalus, Hepatosplenomegaly, Facial paralysis |
OMIM:259710 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Macrocephaly |
ORPHA:53271 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Premature loss of p... |
ORPHA:667 |
Gaucher Disease |
|
Feeding difficulties in infancy, Hydrops fetalis, Cherry red spot of the macula, Abnormal bleedin... |
ORPHA:355 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261537 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Postnatal growth retardation,... |
ORPHA:536467 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Campomelic Dysplasia |
|
Relative macrocephaly, Irregular dentition, Spina bifida, Polyhydramnios, Carious teeth, Contract... |
OMIM:114290 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Cerebral calcification, Abnormal cerebral vascular morphology, Pulmo... |
ORPHA:3205 |
Hemangioblastoma |
|
Nausea and vomiting, Hydrocephalus, Upper limb muscle weakness, Lower limb muscle weakness, Hypoa... |
ORPHA:252054 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... |
ORPHA:71272 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, ... |
OMIM:217090 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261552 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Esophageal va... |
ORPHA:731 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Polyhydramnios, Patent ductus arteriosus, Feeding difficulties, Gast... |
OMIM:618188 |
Vacterl With Hydrocephalus |
|
Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesop... |
ORPHA:3412 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, High palate, Vomiting, Short philtrum, Abdominal pain... |
OMIM:619475 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Polyhydramnios,... |
OMIM:619841 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... |
OMIM:619534 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Periorbital edema, Splenomegaly, Hydrocephalus, Cerebral atrophy, Ab... |
OMIM:272200 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Hydrocephalus, Macrocephaly, Smooth phil... |
ORPHA:585 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Webbed neck |
OMIM:606851 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, Narrow mouth, Umb... |
OMIM:618971 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fist... |
ORPHA:268249 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... |
ORPHA:1946 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Corticospinal tract h... |
OMIM:307000 |
Gorlin Syndrome |
|
Carious teeth, Abnormality of the neck, Hydrocephalus, Cerebral calcification |
ORPHA:377 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, CSF pleocytosis, Paralytic ileus... |
ORPHA:139417 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Relative macrocephaly, Duodenal polyposis, Short neck, Abnormality of canine, Adenomatous colonic... |
ORPHA:261584 |
Isolated Posterior Meningocele |
|
Bowel incontinence, Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, ... |
ORPHA:268810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Muscular dystrophy, Hypoplas... |
OMIM:616538 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Broad neck, Ventricular septal defect, Short stature, Abnormal dental pulp morphology, Hydrocepha... |
ORPHA:363700 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Microcephaly, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Tracheo... |
OMIM:227646 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip tela... |
OMIM:613471 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Short neck, Deep philtrum, Submucous cleft hard palate... |
OMIM:619194 |
Orofaciodigital Syndrome Type 10 |
|
Long philtrum, Cleft soft palate, Accessory oral frenulum, Short neck |
ORPHA:2756 |
Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Anal atresia |
OMIM:617244 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Hydrocephalus, Ascites, Ankyloglossia |
OMIM:602361 |
Fanconi Anemia, Complementation Group L |
|
Short neck, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Feeding d... |
OMIM:614083 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Abnormal cerebral white matter morp... |
ORPHA:395 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosple... |
ORPHA:247598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Dilated third ventricle, Hydrocephalus, Flexion contrac... |
OMIM:613154 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Melena, Abdominal pain |
OMIM:619182 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Protein-losing enteropathy, ... |
OMIM:619991 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Aortic regurgitation, Facial hypotonia, Short neck, Hepatosplenomega... |
ORPHA:309282 |
Rabin-Pappas Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephal... |
OMIM:620155 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation |
OMIM:219730 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Feeding difficulties in infancy, Gastroesophageal reflux, Ho... |
ORPHA:138 |
Mend Syndrome |
|
Smooth philtrum, Redundant neck skin, Short stature, Long neck, Hydrocephalus, High palate, Aorti... |
OMIM:300960 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Facial palsy, Carious teeth, Splenomegaly, Hydrocephalus, Macrocephaly, Facial para... |
OMIM:259700 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Short stature, Hydrocephalus, Flexion contracture, Growth delay, Thin... |
OMIM:616007 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Abnormal salivary gland morphology, Short stature, Hydrocephalus |
ORPHA:31 |
W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... |
ORPHA:2804 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Cerebral calcification, Short stature, Retinal telangiectasia, Postnatal growth retardation, Leuk... |
OMIM:612199 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Cerebral calcification, Tented upper lip vermilion, Hydrocephalus, Cerebellar h... |
OMIM:618476 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... |
ORPHA:90062 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia |
ORPHA:93259 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Severe short stature, Absent septum pellucidum, Congenital diaphragmatic... |
ORPHA:2556 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... |
ORPHA:2072 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta,... |
OMIM:218600 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Cockayne Syndrome A |
|
Hepatomegaly, Hip contracture, Short stature, Delayed eruption of primary teeth, Microcephaly, Ca... |
OMIM:216400 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Chronic diarrhea, Cor pulmonale, Furrowed tongue, Melena, Corneal neova... |
OMIM:158310 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft... |
ORPHA:2554 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Narrow mouth, Agenesis of ... |
ORPHA:3301 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Dental crowding, Abnormal cortical gyration, ... |
OMIM:219000 |
Holoprosencephaly 9 |
|
Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Cleft upper lip,... |
OMIM:610829 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo... |
OMIM:154500 |
Generalized Arterial Calcification Of Infancy |
|
Cerebral calcification, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramni... |
ORPHA:51608 |
Coffin-Siris Syndrome 12 |
|
Short stature, Facial palsy, Microcephaly, Celiac disease, Velopharyngeal insufficiency, Submucou... |
OMIM:619325 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature... |
ORPHA:3455 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Cystic hygr... |
OMIM:617866 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Short stature, Abnormal dental enamel mor... |
ORPHA:2050 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Short stature, Hydrocephalus, Denta... |
OMIM:101800 |
Holoprosencephaly 2 |
|
Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and pala... |
OMIM:157170 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Absent septum pellucidum, Facial palsy, Abnormal dental enamel morphology, ... |
ORPHA:2658 |
Rift Valley Fever |
|
Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, CSF pleocytosis, Retinal hemorrhage, Macul... |
ORPHA:319251 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Dental crowding, Congestive heart failure, Arterial rupture, Bruisin... |
OMIM:225400 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Microcephaly, Short neck, Postnatal growth ... |
OMIM:268300 |
Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Delayed eruption of primary teeth, Microcephaly, Postnatal gr... |
OMIM:133540 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Open bite, Splenomegaly, Hydrocephalus, Venous insufficiency, Macroc... |
ORPHA:2969 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Abnormality of the dentition, Cardiomegaly |
ORPHA:349 |
Coccidioidomycosis |
|
Pericarditis, Broad skull, Hydrocephalus, CSF pleocytosis, Vasculitis, Peritonitis, CSF lymphocyt... |
ORPHA:228123 |
Sickle Cell Disease |
|
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Hypertension, Stroke |
OMIM:603903 |
Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Malabsorption, M... |
OMIM:147920 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, High palate, Short stature |
ORPHA:2720 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... |
OMIM:256040 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Short stature, Nasogastric tube feeding in infancy, Hydrocep... |
ORPHA:221120 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Diarrhea, Hepatosplenomegaly, Feeding diffic... |
OMIM:618278 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... |
OMIM:617542 |
Achondroplasia |
|
Death in infancy, Rhizomelia, Polyhydramnios, Megalencephaly, Hydrocephalus, Feeding difficulties... |
OMIM:100800 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Microce... |
ORPHA:168577 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Short stature, Intestinal malrotation, Congenital diaphragmatic hernia... |
OMIM:305600 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Splenomegaly, Cerebral atrophy, Growth delay, Cardiomyopathy |
OMIM:616084 |
Lhermitte-Duclos Disease |
|
Nausea and vomiting, Hydrocephalus, Macroglossia, Macrocephaly, Polymicrogyria |
ORPHA:65285 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess, C... |
OMIM:600145 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Chapped lip, Anorexia, Abdominal pain, Hematemesis,... |
ORPHA:707 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Hy... |
OMIM:619377 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Chronic diarrhea, Myopat... |
ORPHA:14 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Long philtrum, Atrial septal defect, Camptodactyly |
OMIM:207410 |
Pfeiffer Syndrome |
|
Hydrocephalus, High palate, Dental crowding |
OMIM:101600 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, ... |
OMIM:162200 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Gene... |
OMIM:264090 |
Neuroocular Syndrome |
|
Scapular winging, Short stature, Microcephaly, Short uvula, Submucous cleft hard palate, Downturn... |
OMIM:619539 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Short stature, Macrodontia, Cleft upper lip, Venous insufficiency, Hydrocephalu... |
ORPHA:1106 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus, Vomiting, Nausea |
OMIM:260500 |
Crouzon Syndrome |
|
Hydrocephalus, High palate, Dental crowding |
OMIM:123500 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Elbow contracture, Spina bifida, Short neck, Postnatal growth retardation, Hydroce... |
OMIM:304120 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Short stature, Hydrocephalus, Microdontia, Dentinogenesis imperfecta |
OMIM:112240 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Short stature, Hypoplasia of the tooth germ... |
OMIM:182250 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Bloody diarrhea,... |
OMIM:175200 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Enlarged polycystic ovaries, High, narrow palate, Hydrocephalus, Flexion contracture, Elbow flexi... |
ORPHA:95699 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia, Macrocephaly |
ORPHA:15 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy |
ORPHA:199244 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Microcephaly, Hydrocephalus, Tra... |
OMIM:107480 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding |
ORPHA:98870 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Death in infancy, Splenomegaly, Hydrocephalus, Growth delay, Lateral ventricle dila... |
OMIM:612301 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ... |
ORPHA:2250 |
Craniopharyngioma |
|
Nausea and vomiting, Cerebral calcification, Myocardial infarction, Proportionate short stature, ... |
ORPHA:54595 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypopla... |
ORPHA:457284 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Bowel incontinence |
OMIM:236690 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios |
ORPHA:3016 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
Functioning Gonadotropic Adenoma |
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Enlarged polycystic ovaries, Hydrocephalus, Ascites, Delayed puberty |
ORPHA:91348 |
Cryptococcosis |
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Hydrocephalus, Peritonitis, Nuchal rigidity, Pleural effusion, Vomiting, Limb muscle weakness, Ce... |
ORPHA:1546 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Facial hypotonia, Megalencephaly, Long neck, Diffuse white matter ab... |
ORPHA:457359 |
Pmm2-Cdg |
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Thin upper lip vermilion, Pericarditis, Cerebellar vermis hypoplasia, Multiple joint contractures... |
ORPHA:79318 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Megalencephaly, Long neck, Thick corpus callosum, High palate, Macro... |
OMIM:617011 |
Basal Cell Nevus Syndrome 2 |
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Hydrocephalus, Calcification of falx cerebri, Macrocephaly |
OMIM:620343 |
Blue Rubber Bleb Nevus |
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Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Microcephaly, Hydrocephal... |
ORPHA:322 |
Fraser Syndrome 3 |
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Nonimmune hydrops fetalis, Hydrocephalus, Stillbirth, Ascites, Oligohydramnios |
OMIM:617667 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Hydrocephalus |
OMIM:601794 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Microcephaly, Feeding difficulties in infancy, Hydrocephalus, Cerebral cortical atrophy, Smooth p... |
OMIM:277400 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Arteriosclerosis, Hydrocephalus, Short stature, Microcephaly |
ORPHA:220295 |
47,Xyy Syndrome |
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Hydrocephalus, Macrocephaly |
ORPHA:8 |
Full Nf2-Related Schwannomatosis |
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Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Dysphagia, Foot dorsiflexor weakness |
ORPHA:637 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi... |
OMIM:301000 |
Caroli Syndrome |
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Abnormal bleeding, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematem... |
ORPHA:480520 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Thickened nuchal skin fold, Severe short stature, Short neck, Microcephaly, Submucous cleft hard ... |
ORPHA:2636 |
Yellow Fever |
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Abnormal bleeding, Shock, Nausea, Abdominal pain, Excessive bleeding after a venipuncture, Suprav... |
ORPHA:99829 |
Tuberous Sclerosis Complex |
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Cortical dysplasia, Internal hemorrhage, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Aor... |
ORPHA:805 |
Multiple Endocrine Neoplasia Type 1 |
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Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... |
ORPHA:652 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus, Short stature, Downturned corners of mouth |
ORPHA:1064 |
Ciliary Dyskinesia, Primary, 1 |
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Situs inversus totalis, Communicating hydrocephalus |
OMIM:244400 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Macroce... |
ORPHA:252183 |
Arachnoiditis |
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Hydrocephalus |
ORPHA:137817 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus, Rhabdomyosarcoma |
ORPHA:626 |
Hydrocephalus, Congenital, 5, Susceptibility To |
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Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Laurin-Sandrow Syndrome |
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Downturned corners of mouth, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2378 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypopla... |
OMIM:253280 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Beemer-Ertbruggen Syndrome |
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Communicating hydrocephalus, Deep philtrum |
ORPHA:1237 |
Oeis Complex |
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Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis... |
OMIM:258040 |
Hypoplasminogenemia |
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Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malfo... |
ORPHA:722 |
Split Cord Malformation |
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Bowel incontinence, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, H... |
ORPHA:573278 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Cleft palate, Anal atresia |
OMIM:273395 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Neurofibromatosis Type 1 |
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Short stature, Hydrocephalus, Arterial stenosis, Hypertension, Macrocephaly, Neoplasm of the gast... |
ORPHA:636 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Short stature, Hydrocephalus, Flexion contracture, Myopathy, Abnormal palate mor... |
ORPHA:3042 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |