Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia o... |
ORPHA:1926 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Right aortic arch, Transposition of the great arteries, Low-set ears, ... |
OMIM:231060 |
Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... |
ORPHA:244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Synophrys |
ORPHA:3366 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Abnormal helix morphology, Low-se... |
ORPHA:1913 |
Schisis Association |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Anterior encephalocele, Coloboma, Holoprosencephaly, Low-set ears |
OMIM:601357 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... |
OMIM:208530 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Epicanthus |
ORPHA:1906 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition ... |
OMIM:313850 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Umbilical hernia, Ptosis |
ORPHA:1373 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Caudal Duplication |
|
Omphalocele, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sensorineural hearing imp... |
ORPHA:2143 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Blepharophimosis, Intrauterine growth retardation, Downslan... |
ORPHA:1707 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Anterior creases of earlobe, Hypoplastic left heart, Transposition of ... |
ORPHA:1727 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Posteriorly rotated ears, Perimembranous ventricular septal defect, Transposition of the great ar... |
OMIM:617877 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:603194 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Carpenter Syndrome 1 |
|
Omphalocele, Atrial septal defect, Abnormal pinna morphology, Ventricular septal defect, Patent d... |
OMIM:201000 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,... |
OMIM:618619 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Low-set... |
OMIM:619910 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Miller-Dieker Syndrome |
|
Omphalocele, Epicanthus |
ORPHA:531 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal ... |
OMIM:314390 |
Trigonocephaly 1 |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele, Synophrys |
OMIM:190440 |
8P23.1 Microdeletion Syndrome |
|
External ear malformation, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic card... |
ORPHA:251071 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:619657 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macrotia, Patent foramen ovale, Transposition of the great arteries, Low-set ears |
OMIM:616789 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac... |
ORPHA:2306 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Gastroschisis |
ORPHA:2476 |
Ververi-Brady Syndrome |
|
Macrotia, Cupped ear, Transposition of the great arteries, Low-set ears |
OMIM:617982 |
Triploidy |
|
Low-set, posteriorly rotated ears, Omphalocele, Hydrocephalus, Meningocele, Holoprosencephaly, In... |
ORPHA:3376 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo... |
OMIM:618254 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Telecanthus, Posteriorly rotated ears, Congenital diaphragmatic hernia, ... |
OMIM:263210 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Joint contracture of the hand, Spina bifida, Camptodactyly |
OMIM:211960 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Inguinal hernia, Ventricular septal de... |
OMIM:600001 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Upslanted palpebral fissure, Omphalocele |
ORPHA:3035 |
Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Hydrocephalus, Myelome... |
ORPHA:63259 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Ventricular septal defect, Tetralogy of Fa... |
ORPHA:1780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... |
OMIM:253800 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia, Low-set ears |
OMIM:601163 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Telecanthus, Diastasis recti, Highly arched eyebrow, He... |
OMIM:257920 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Inguinal hernia |
ORPHA:2128 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Epicanthus, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, N... |
ORPHA:254528 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Low-set ears |
ORPHA:93267 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... |
OMIM:617992 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Donnai-Barrow Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sensorineural hearing imp... |
OMIM:222448 |
Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Eyelid coloboma, Gastroschisis, Bladder exstrophy |
OMIM:217100 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Underfolded helix, Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Large... |
OMIM:618316 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Recurrent otitis media, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele, Telecanthus |
OMIM:601927 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele |
OMIM:614450 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Microtia, Blepharophimosis, S... |
OMIM:608149 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalus, Downslanted... |
ORPHA:261344 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Phaver Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Conductive hearing impairment, Myelomeningoc... |
ORPHA:2876 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Posteriorly rotated ears, Hydrocephalus, Upslanted palpebral fissure,... |
OMIM:264480 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Camptodactyly of finger, Spina bifida... |
ORPHA:3380 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical co... |
OMIM:256520 |
Alg3-Cdg |
|
Abnormal pinna morphology, Coarctation of the descending aortic arch, Neural tube defect, Cardiom... |
ORPHA:79321 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Highly arched eyebrow, Asymmetry of the ears, Sparse eyebrow, Flexion contracture, U... |
OMIM:619124 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Microtia, Limbal dermoid |
ORPHA:1834 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
ORPHA:2255 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Inguinal hernia, Ventricular septal defect, Uplifted earlobe, Pulmonary artery stenosis, Overfold... |
OMIM:280000 |
Microphthalmia, Syndromic 9 |
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Atrial septal defect, Inguinal hernia, Ventricular septal defect, Agenesis of pulmonary vessels, ... |
OMIM:601186 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Splenomegaly, Increased B cell count |
OMIM:616452 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial septal defect, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect,... |
OMIM:270100 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Highly arched eyebrow, Upslan... |
OMIM:158170 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Focal Dermal Hypoplasia |
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Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Congenital diaphra... |
ORPHA:2092 |
Anophthalmia Plus Syndrome |
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Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob... |
ORPHA:1104 |
Short-Rib Thoracic Dysplasia 12 |
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Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Hy... |
OMIM:269860 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Iris colob... |
ORPHA:2162 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Inferiorly positioned... |
OMIM:263650 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Heterotaxy, Visceral, 2, Autosomal |
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Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Omphalocele, Congenital diaphragmatic... |
ORPHA:887 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Meningocele, Facial palsy, Pseudopapilledema |
ORPHA:3456 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Teebi Hypertelorism Syndrome 1 |
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Omphalocele, Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Downslanted pa... |
OMIM:145420 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Camptodactyly of fi... |
ORPHA:1327 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Hearing impairm... |
ORPHA:894 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Posteriorly rotated ears, Long eyelashes, Low-set ears, Camptodactyly |
OMIM:618529 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Epicanthus, Sensorineural hearing impairment, Protruding ear, Upslanted palpebral fi... |
OMIM:609625 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Myelomeningocele,... |
ORPHA:90652 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Highly arched eyebrow, Congen... |
OMIM:618454 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the abdominal ... |
OMIM:247200 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Situs inversus total... |
ORPHA:1908 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia |
OMIM:618174 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Popliteal pterygium, Overfolded helix |
ORPHA:3329 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis |
OMIM:119580 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos |
OMIM:248450 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Hydrocephalus, Holoprosencephaly, ... |
ORPHA:2166 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Abnormality of the orbital region, Pterygium, Iris coloboma |
ORPHA:371428 |
Cloacal Exstrophy |
|
Omphalocele, Spina bifida, Myelomeningocele, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Low-set ears |
OMIM:617895 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Hydrocephalus, Pulmonary hypoplasia, Low-set ears, Atrial septal defect... |
ORPHA:2655 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Holoprosencephaly 7 |
|
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Lobar holoprosencephaly, Upslant... |
OMIM:610828 |
Recombinant Chromosome 8 Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Pulm... |
OMIM:179613 |
Restrictive Dermopathy |
|
Atrial septal defect, Dextrocardia, Large placenta, Patent ductus arteriosus, Ascending tubular a... |
ORPHA:1662 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Meningocele, Optic atr... |
ORPHA:991 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Low-set ... |
OMIM:220210 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Patent ductus arter... |
ORPHA:354 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Intrauterine growth retardation, Downslanted palpebral fissures, Low-set ears |
OMIM:617022 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Microtia, Blepharophimosis |
ORPHA:254519 |
C Syndrome |
|
Omphalocele, Epicanthus, Posteriorly rotated ears, Upslanted palpebral fissure, Low-set ears |
OMIM:211750 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctation of aorta, Supravalvar pulmon... |
OMIM:618164 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Sparse eyebrow, Stillbirth, Macrotia |
OMIM:616300 |
Fibrochondrogenesis |
|
Omphalocele, Camptodactyly of finger, Hearing abnormality, Low-set ears, Downslanted palpebral fi... |
ORPHA:2021 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, P... |
ORPHA:2437 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Lateral Meningocele Syndrome |
|
Epicanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Se... |
ORPHA:2789 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Pulmonary hypoplasia, Neonatal death, Low-set ears, Hydranencephaly |
OMIM:236500 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Overriding aorta, Patent ductus arteriosus, Macrotia, Protruding ear, Pulmo... |
ORPHA:3304 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hearing impairment |
OMIM:617577 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis |
OMIM:618736 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus |
ORPHA:2736 |
Mosaic Trisomy 1 |
|
Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:1692 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Hernia ... |
ORPHA:2184 |
Chime Syndrome |
|
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... |
ORPHA:3474 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Epicanthus, Posteriorly rotated ears, Diastasis recti, Highly arched eyebrow, Sparse... |
OMIM:618419 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Ablepharon, Absent eyebrow, Camptodactyly of finger, Absent eyelashes, Microtia, Atr... |
ORPHA:920 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Omphalocele, Downslanted palpebral fissures |
OMIM:311300 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Low-set ears, Pulmonary... |
OMIM:202650 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Epicanthus, Abnormal pinna morphology, Upslanted palpebral fissure, Low-set ears |
OMIM:200995 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Fibrochondrogenesis 1 |
|
Omphalocele, Abnormal pinna morphology, Stillbirth, Low-set ears, Camptodactyly, Joint contractur... |
OMIM:228520 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Epicanthus, Posteriorly rotated ears, Facial palsy, Hydrocephalus, Joint contracture... |
OMIM:300373 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Hydrocephalus, Mening... |
OMIM:614424 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, Low-set ears, Atria... |
OMIM:614846 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia, Protruding ear |
OMIM:617468 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Pulmonary hypoplasia, Hearing impairment |
OMIM:616733 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Cupped ear, Sensorineural heari... |
ORPHA:314588 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Opitz Gbbb Syndrome |
|
Omphalocele, Telecanthus, Inguinal hernia, Posteriorly rotated ears, Hearing impairment, Congenit... |
ORPHA:2745 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Epicanthus, Protruding ear, Upslanted palpebral fissure, Holoprosencephaly, Low-set ... |
OMIM:618820 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... |
ORPHA:3426 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia |
OMIM:619003 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly,... |
OMIM:218350 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing impairment, Muscular ventr... |
OMIM:612474 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Chorioretina... |
ORPHA:2031 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long eyelashes, Low-set ears, ... |
OMIM:616894 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the ear, Interrupted aortic arch, Unil... |
OMIM:192430 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia, Conotruncal defect |
OMIM:243440 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Hydrocepha... |
OMIM:312870 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Holoprosencephaly, Atresia of the external auditory canal, Cyclopia, Abnormality of ... |
ORPHA:3186 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Sensori... |
OMIM:614976 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Highly arched eyebrow, Low-set ears, Abnormal helix morphology, Umbilical hernia, Do... |
ORPHA:1519 |
Marshall-Smith Syndrome |
|
Omphalocele, Optic nerve hypoplasia, Highly arched eyebrow, Hydrocephalus, Synophrys, Overfolded ... |
OMIM:602535 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Mosaic Trisomy 16 |
|
Abnormal ear morphology, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abn... |
ORPHA:1708 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aortic valve sten... |
OMIM:615415 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele, Abnormality of the abdomina... |
ORPHA:322 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... |
ORPHA:2257 |
Melnick-Needles Syndrome |
|
Omphalocele, Hearing impairment |
ORPHA:2484 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Camptodactyly of finger, Congenital diaphragm... |
ORPHA:2311 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Omphalo... |
OMIM:200110 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Exencephaly, Brachycephaly |
ORPHA:2211 |
Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Spina bifida, Hearing impairment |
ORPHA:2345 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Telecanthus, Abnormal eyelash morphology, Downslanted palpebral fissures, Sparse lat... |
ORPHA:3164 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Camptodactyly of finger, Highly a... |
ORPHA:261318 |
Lateral Meningocele Syndrome |
|
Telecanthus, Inguinal hernia, Posteriorly rotated ears, Abnormality of the middle ear ossicles, H... |
OMIM:130720 |
Fountain Syndrome |
|
Epicanthus, Spina bifida, Synophrys, Sensorineural hearing impairment, Spina bifida occulta, Thic... |
ORPHA:3219 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno... |
ORPHA:1110 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left hear... |
OMIM:617660 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Situs inversus totalis, Holoprosencephaly, Synotia, Narrow int... |
ORPHA:990 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Camptodactyly of finger, Large placenta, Hydrocephalus, Ane... |
OMIM:249000 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... |
OMIM:265380 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, Highly arched eyebrow, Spina bifida, Hydroceph... |
OMIM:613776 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Inguinal hernia, Ventricular septal defect, Mitral atresia, Ascending... |
OMIM:619503 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger |
ORPHA:1759 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Posteriorly rotated ears, Pulmonary hypoplasia |
OMIM:224410 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intrauterine growth retardation, Enamel hypoplasia |
OMIM:243150 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Congenital sensorineural hearing impai... |
OMIM:193500 |
Codas Syndrome |
|
Omphalocele, Sensorineural hearing impairment, Conductive hearing impairment, Crumpled ear, Ename... |
OMIM:600373 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Abnormal pinna morphology, Bicuspid aortic valve, Ventricular septal defect, De... |
ORPHA:477817 |
Fraser Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, External ear malformation, Myelome... |
ORPHA:2052 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the cochlea, Patent ductus arteriosus after birth... |
ORPHA:251061 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2241 |
Focal Dermal Hypoplasia |
|
Omphalocele, Mixed hearing impairment, Inguinal hernia, Diastasis recti, Congenital diaphragmatic... |
OMIM:305600 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Hearing impairment, Hearing abnormality, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:2990 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Aganglionic megacolon, Congenital diaphragmatic h... |
ORPHA:2059 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Large fleshy ears, Pleural eff... |
OMIM:616897 |
Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Inguinal hernia, Camptodactyly of fin... |
ORPHA:373 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Narrow palpebral fissure, Stillbirth, Aplasia of the left hem... |
OMIM:229850 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Hydrocephalus, Microtia, Retina... |
ORPHA:2839 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplas... |
OMIM:611812 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Microtia, third degree, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydro... |
ORPHA:3412 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Omphalocele, Telecanthus, Lipodystrophy, Large fleshy ears, Lo... |
ORPHA:79328 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Ventricular septal defect, Patent ductus art... |
ORPHA:2962 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Severe sensorineural hearing impairment, Meningocele, Sacral lipoma |
ORPHA:2003 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Abnormal heart morphology, Pulmonary hypo... |
ORPHA:1865 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Abnormal pinna morphology, Anencephaly, Stillbirth, Low-set ears, Severe hydrocephal... |
OMIM:236680 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Posteriorly rotated ears, Patent ductus arteriosus, Anencephaly, Pulmonary hypopla... |
OMIM:619148 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia |
OMIM:241800 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Distal Deletion 10Q |
|
Abnormal morphology of the vestibule of the inner ear, Congenital sensorineural hearing impairmen... |
ORPHA:96148 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Epicanthus, Posteriorly rotated ears, Interphalangeal joint contracture of finger, D... |
ORPHA:96334 |
Gorham-Stout Disease |
|
Pleural effusion, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Aqueductal stenosis, ... |
OMIM:154400 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Hearing impairment |
ORPHA:93296 |
Oeis Complex |
|
Omphalocele, Myelomeningocele, Hydrocephalus, Bladder exstrophy, Cloacal exstrophy |
OMIM:258040 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Gastroschisis, Atherosclerosis |
ORPHA:95427 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia, Hypoplastic heart, Low-set ears |
OMIM:312150 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Posteriorly rotated ears, Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth... |
OMIM:304120 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Absent eyebrow, Inguinal hernia, Abnormal nasolacrimal system morphology, Aganglioni... |
ORPHA:2273 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Facial palsy |
OMIM:255320 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Hearing impairment, Myelomeningo... |
ORPHA:3440 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Microtia, Pulmonary hypoplasia, Holoprosencephaly, Low-set ears |
OMIM:612530 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Pneumothorax, Holoprosencephaly, Low-set ears, Pulmonary hypoplasia, Sin... |
OMIM:619879 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Pulmonary hypoplasia |
ORPHA:1486 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Conductive hearing... |
ORPHA:567 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Ventricular septal defect, Large earlobe, Low-s... |
OMIM:301056 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Telecanthus, Midline central nervous system lipomas, Meningocele, Ptosis |
ORPHA:1827 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Hypoplastic heart, Low-set ears |
OMIM:253290 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal helix morphology, Congenital diaphragmatic hernia, Spina bifida |
ORPHA:1120 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of ... |
ORPHA:3309 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction velocity, Aortic roo... |
OMIM:616652 |
Marden-Walker Syndrome |
|
Inguinal hernia, Pulmonary hypoplasia, Dextrocardia, Low-set ears |
OMIM:248700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Macrotia, Coarctati... |
OMIM:600460 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P... |
ORPHA:2260 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Sensorineural hearing impairm... |
ORPHA:2326 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Neu-Laxova Syndrome 2 |
|
Low-set ears, Ablepharon, Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Melnick-Needles Syndrome |
|
Recurrent otitis media, Macrotia, Stillbirth, Omphalocele |
OMIM:309350 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Intrauterine growth retardation |
ORPHA:436252 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Conductive hearing impairment, Myelomeningocele, Meningocele, Atresia of the extern... |
ORPHA:1393 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Gastroschisis, Low-set ... |
OMIM:273395 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:300978 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Epicanthus, Congenital diaphragmatic hernia, Apla... |
ORPHA:1308 |
Esophageal Atresia |
|
Omphalocele, Coloboma, Abnormality of the ear, Hearing impairment |
ORPHA:1199 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Lar... |
ORPHA:116 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Low-set ears, Atrial septal defect, Occipital m... |
OMIM:616546 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Patent ductu... |
ORPHA:818 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hearing impairment, Alo... |
OMIM:301043 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Charge Syndrome |
|
Omphalocele, Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, ... |
OMIM:214800 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Inguinal hernia, Aganglionic megacolon, Hearing impairment, Absent e... |
OMIM:308205 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus... |
OMIM:212093 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Aortopulmo... |
OMIM:620025 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
Neurocutaneous Melanocytosis |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Pulmonary hypoplasia, Facial palsy, Low-set ears |
ORPHA:171430 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Limb Body Wall Complex |
|
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Diastasis recti, Spina bifida, Conge... |
ORPHA:2369 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Patent ductus arteriosus, Cupped ear, Large fleshy ears, Pulmonary hypo... |
OMIM:614080 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Low-set ears |
OMIM:191830 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia, Neonatal death, Low-set ears |
OMIM:251230 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Posteriorly rotated ears, Optic nerve hypoplasia, Ventricular septal defect... |
OMIM:617506 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Epicanthus |
OMIM:182210 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... |
ORPHA:261311 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Okamoto Syndrome |
|
Omphalocele, Abnormal helix morphology, Low-set ears, Long palpebral fissure, Macrotia, Ptosis |
ORPHA:2729 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Amish Lethal Microcephaly |
|
Optic atrophy, Spina bifida |
ORPHA:99742 |
Down Syndrome |
|
Atrial septal defect, Aganglionic megacolon, Ventricular septal defect, Atrioventricular canal de... |
OMIM:190685 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abnormal eyela... |
ORPHA:2671 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Prominent antihelix, Abnormal antihelix morphol... |
ORPHA:2886 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Thoracic aortic aneurysm, Posteriorly rotated ears, Repeated pneumothor... |
ORPHA:536467 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Inguinal hernia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umb... |
OMIM:613177 |
Necrotizing Enterocolitis |
|
Gastroschisis, Abnormal heart morphology |
ORPHA:391673 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Atrial septal defect, Hydrocephalus, Double outlet right ventricle |
OMIM:614886 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Sensorineural hearing impairment, Pulmonary h... |
OMIM:619351 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Unilateral deafness, Meningocele, Flexion contr... |
ORPHA:1010 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:85166 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:214100 |
Lathosterolosis |
|
Ptosis, Epicanthus, Meningocele, Intrauterine growth retardation, Downslanted palpebral fissures,... |
ORPHA:46059 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter... |
ORPHA:163956 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Microtia, Pulmonary hypoplasia, Low-set ears, Neonatal death |
OMIM:608013 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Pulmonary hypoplasia, Low-set ears |
OMIM:608022 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Inguinal hernia, Aganglionic megacolon, Recurrent pneumonia, Abnormal ... |
ORPHA:798 |
Fetal Akinesia Deformation Sequence |
|
Posteriorly rotated ears, Pulmonary hypoplasia |
ORPHA:994 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Ectropion, Inguinal hernia, Spina bifida, Aplasia/... |
ORPHA:2308 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia, Low-set ears |
OMIM:151210 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Abnormal pinna morphology, Pulmonary hypoplasia |
OMIM:231680 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hearing impairment, Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Umbilic... |
OMIM:308050 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Low-set ears |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Complete atrioventricular canal defect, Microtia, Pulmonary hypoplasia... |
OMIM:617925 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:250999 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Hearing impairment, Double aortic arch, Vascular ring |
OMIM:616954 |
Genitopatellar Syndrome |
|
Atrial septal defect, Pulmonary hypoplasia, Low-set ears, Hearing impairment |
ORPHA:85201 |
Raine Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Hydrocephalus, Pro... |
OMIM:259775 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Posteriorly rotated ears, Bicuspid aortic valv... |
OMIM:612289 |
Lumbar Syndrome |
|
Myelomeningocele, Bladder exstrophy, Spina bifida |
ORPHA:83628 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry |
ORPHA:137634 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Low-set ears, Sirenomelia |
ORPHA:1848 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp... |
OMIM:300755 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Megalopa... |
OMIM:615636 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Posterior helix pit, Diastasis recti |
OMIM:130650 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Inguinal hernia, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of t... |
ORPHA:508488 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Charge Syndrome |
|
Aortic arch aneurysm, Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, Aquedu... |
ORPHA:138 |
Pallister-Killian Syndrome |
|
Omphalocele, Telecanthus, Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Hearing impairm... |
OMIM:601803 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Epicanthus, Meningocele, Abnormal opt... |
ORPHA:397715 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Upslanted palpebral fissure, Low-set ears, Intrauterine gr... |
ORPHA:99776 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Cupped ear, Double outlet right ventricle, Low-set ears, Pulmonic steno... |
OMIM:618223 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal pinna morphology, Myelomeningocele, Hydrocephalus, Cupped ear, Abnormal h... |
OMIM:219000 |
Achondroplasia |
|
Conductive hearing impairment, Hydrocephalus, Recurrent otitis media, Pulmonary hypoplasia |
OMIM:100800 |
Ogden Syndrome |
|
Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricula... |
OMIM:300855 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Low-... |
OMIM:234100 |
Nail-Patella Syndrome |
|
Sensorineural hearing impairment, Antecubital pterygium, Spina bifida, Ptosis |
OMIM:161200 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Sens... |
OMIM:164210 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Prominent scalp veins, Inguinal hernia, Abnormal heart valve m... |
ORPHA:536471 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Curry-Jones Syndrome |
|
Blepharophimosis, Occipital meningocele, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Microphthalmia, Syndromic 2 |
|
Posteriorly rotated ears, Ventricular septal defect, Asymmetry of the ears, Dextrocardia, Antever... |
OMIM:300166 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Congenital sensorineur... |
OMIM:157800 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Digeorge Syndrome |
|
Inguinal hernia, Ventricular septal defect, Femoral hernia, Atelectasis, Patent ductus arteriosus... |
OMIM:188400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial palsy, Low-set ... |
OMIM:619480 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Inguinal hernia, Pulmonary hypoplasia, Low-set ears, Co... |
OMIM:265000 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Sensorineural hearing impairment, Multiple muscular... |
ORPHA:391641 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Facial palsy, Spina bifida, Optic nerve hypoplasia, Almond-shaped palpebral fi... |
ORPHA:508498 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:1190 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Sensorineural hearing impairme... |
OMIM:617063 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Fanconi Anemia |
|
Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpeb... |
ORPHA:84 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia, Low-set ears |
OMIM:200600 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Mixed hearing impairment, Inguinal hernia, Cerebral hemorrhage, ... |
ORPHA:666 |
Hypoglossia-Hypodactyly Syndrome |
|
Gastroschisis, Abnormal cranial nerve morphology |
ORPHA:989 |
Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Hydropic placenta, Stillbirth, Short umbilical cord, Low-set ears, Neon... |
OMIM:275210 |
Phakomatosis Pigmentokeratotica |
|
Coloboma, Spina bifida |
ORPHA:2874 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Optic disc coloboma, Optic atrophy, Lipoma, Sparse lateral eyebrow |
OMIM:304050 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia, Low-set ears, Coarctation of aorta |
ORPHA:50945 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia, Low-set ears |
OMIM:618975 |
Tetrasomy 9P |
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Juxtaductal coarctation of the aorta, Glue ear, Pericarditis, Dextrocardia, Hydrocephalus, Abnorm... |
ORPHA:3310 |
Frank-Ter Haar Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Protruding ear, Mitral valve prolapse, ... |
OMIM:249420 |
Smith-Lemli-Opitz Syndrome |
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Atrial septal defect, Aganglionic megacolon, Posteriorly rotated ears, Ventricular septal defect,... |
OMIM:270400 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inguinal hernia, Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia |
ORPHA:457284 |
Orofaciodigital Syndrome Vi |
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Epicanthus, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Occipital meni... |
OMIM:277170 |
Greenberg Dysplasia |
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Large placenta, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal ... |
OMIM:215140 |
Fetal Akinesia Deformation Sequence 1 |
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Posteriorly rotated ears, Hydrocephalus, Stillbirth, Short umbilical cord, Low-set ears, Small pl... |
OMIM:208150 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy, Abnormal autonomic nervous system ph... |
OMIM:601559 |
Knobloch Syndrome 1 |
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Occipital encephalocele, Epicanthus, Telecanthus, Optic disc pallor, Peripapillary atrophy, Horiz... |
OMIM:267750 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Pulmonary hypoplasia, Interstitial emphysema, Optic atrophy, Bronchiectasis |
OMIM:619708 |
Rubinstein-Taybi Syndrome 1 |
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Broad eyebrow, Epicanthus, Spina bifida, Highly arched eyebrow, Hearing impairment, Simple ear, F... |
OMIM:180849 |
Congenital Myopathy 22B, Severe Fetal |
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Pleural effusion, Pulmonary hypoplasia, Low-set ears |
OMIM:620369 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Orbital cyst, Iris coloboma, Spina bifida |
OMIM:109400 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Epicanthus, Spina bifida, Hearing impairment, Hydrocephalus, Optic atrophy, Protruding ear, Upsla... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Epicanthus, Spina bifida, Hearing impairment, Hydrocephalus, Optic atrophy, Protruding ear, Upsla... |
ORPHA:363958 |
Fibular Hemimelia |
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Thoracoabdominal wall defect, Spina bifida |
ORPHA:93323 |
Campomelic Dysplasia |
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Epicanthus, Spina bifida, Conductive hearing impairment, Hydrocephalus, Contracture of the distal... |
OMIM:114290 |
Lethal Congenital Contracture Syndrome 9 |
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Pulmonary hypoplasia, Short umbilical cord, Low-set ears |
OMIM:616503 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Epicanthus |
ORPHA:93271 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Neural tube defect, A... |
ORPHA:93924 |
Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
Penile Agenesis |
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Ventricular septal defect, Posteriorly rotated ears, Cloacal abnormality, Bilateral lung agenesis... |
ORPHA:49 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Protruding ear, ... |
OMIM:619534 |
Atelosteogenesis Type Ii |
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Pulmonary hypoplasia, Low-set ears |
ORPHA:56304 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Meningocele, Protruding ear |
ORPHA:2879 |
Wolcott-Rallison Syndrome |
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Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Pulmonary hypoplasia |
OMIM:614091 |
Orofaciodigital Syndrome Type 4 |
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Recurrent respiratory infections, Microtia, third degree, Posteriorly rotated ears, Abnormality o... |
ORPHA:2753 |
Arima Syndrome |
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Occipital meningocele, Optic atrophy, Chorioretinal coloboma, Ptosis |
OMIM:243910 |
Renal Tubular Dysgenesis |
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Pulmonary hypoplasia |
OMIM:267430 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Patent ductus arteriosus, Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules |
OMIM:162200 |
Renal Agenesis |
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Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Caudal Regression Syndrome |
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Pulmonary hypoplasia |
ORPHA:3027 |
Dpagt1-Cdg |
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Optic atrophy, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia, Diffuse optic ... |
ORPHA:86309 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Inguinal hernia, Perimembranous ventricular septal defect, Pulmonary hypoplasia, Low-set ears |
ORPHA:83617 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Cranial asymmetry |
OMIM:163200 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Pulmonary hypoplasia |
ORPHA:86822 |
Acrorenal-Mandibular Syndrome |
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Posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears |
OMIM:200980 |
Marfan Syndrome |
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Inguinal hernia, Meningocele, Downslanted palpebral fissures |
ORPHA:558 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma |
ORPHA:573278 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Doors Syndrome |
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Optic atrophy, Sirenomelia, Atresia of the external auditory canal, Low-set ears, Aspiration pneu... |
ORPHA:79500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:263520 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Inguinal hernia, Pulmonary hypoplasia |
OMIM:271520 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida, Ptosis |
OMIM:274000 |
Norrie Disease |
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Venous insufficiency, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal c... |
ORPHA:649 |
Duplication Of Urethra |
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Gastroschisis |
ORPHA:237 |
Autosomal Recessive Polycystic Kidney Disease |
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Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia, Low-set ears |
ORPHA:731 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:208500 |
Mckusick-Kaufman Syndrome |
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Aganglionic megacolon, Pulmonary hypoplasia |
OMIM:236700 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Epicanthus, Abnormal pinna morphology, Elbow flexion contracture, Long ear, Low-set ears, Occipit... |
OMIM:276820 |
Genitopatellar Syndrome |
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Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Hearing impairment |
OMIM:606170 |
Ulbright-Hodes Syndrome |
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Pneumothorax, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears |
ORPHA:3404 |
Microphthalmia, Syndromic 1 |
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Abnormal pinna morphology, Aganglionic megacolon, Bicuspid aortic valve, Optic disc coloboma, Pul... |
OMIM:309800 |
Wiedemann-Rautenstrauch Syndrome |
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Frontal bossing, Hydrocephalus, Cranial asymmetry, Severe intrauterine growth retardation, Intrau... |
ORPHA:3455 |