Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Dysequilibrium Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:1766 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:2815 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract |
OMIM:165300 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst |
OMIM:620086 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... |
OMIM:217095 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Ventricular septal defect |
OMIM:614876 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Death in childhood |
OMIM:619492 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Cataract, Ataxia |
OMIM:278780 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology |
OMIM:601612 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:224050 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Cataract |
OMIM:620312 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Cataract, Vacuolated lymphocytes |
OMIM:204200 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Conjunctivitis |
OMIM:601457 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis |
ORPHA:247815 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, B lymphocytopenia |
OMIM:619851 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Gait disturbance |
ORPHA:1875 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis |
OMIM:217085 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Charcot-Marie-Tooth Disease Type 1E |
|
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... |
ORPHA:90658 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Cataract |
ORPHA:79238 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Leukocoria, Bone marrow hypocellularity, Megalocornea |
OMIM:268130 |
Parkinson Disease 17 |
|
Tremor, Resting tremor, Akinesia |
OMIM:614203 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet... |
ORPHA:217260 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Mevalonic Aciduria |
|
Splenomegaly, Cataract, Ataxia |
ORPHA:29 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Familial Dysautonomia |
|
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... |
ORPHA:1764 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Cataract, Ataxia, Intention tremor |
OMIM:614307 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Progressive cerebellar atax... |
ORPHA:284289 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Usher Syndrome Type 1 |
|
Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231169 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia, Conjunctival hy... |
ORPHA:240071 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Gait disturbance, Dystonia |
ORPHA:101006 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Corticobasal Syndrome |
|
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia |
ORPHA:454887 |
Cardiomyopathy, Dilated, 2G |
|
Left atrial enlargement, Myocardial sarcomeric disarray, Myofiber disarray, Dilated cardiomyopath... |
OMIM:619897 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Miller Fisher Syndrome |
|
Anisocoria, Ataxia, Mydriasis |
ORPHA:98919 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells |
OMIM:614878 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Neutropenia |
ORPHA:2643 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... |
OMIM:619343 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Dysmetria, Subcapsular cataract, Intention tremor |
OMIM:612674 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Microcornea, Blepharospasm, Hypoplastic iris st... |
ORPHA:233 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Grange Syndrome |
|
Ventricular septal defect |
ORPHA:79094 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Loss of ambulation |
OMIM:607371 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased B cell count |
ORPHA:98813 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Choriocapillaris atrophy, Cataract, Chorioretinal atrophy |
OMIM:613835 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Decreased p... |
ORPHA:331235 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Torticollis, Abnormal pupil shape, Cataract |
ORPHA:45358 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected transposition of th... |
OMIM:618300 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... |
OMIM:306955 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Microcytic anemia |
OMIM:618805 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Ataxia, Akinesia, Tremor, Limb ataxia, Gait ataxia, Blepharospasm... |
ORPHA:48818 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cere... |
OMIM:208900 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Ataxia |
OMIM:231550 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... |
ORPHA:247234 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus,... |
ORPHA:508533 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia |
OMIM:606693 |
Charcot-Marie-Tooth Disease Type 4C |
|
Inability to walk, Gait ataxia, Anisocoria, Head tremor, Difficulty walking |
ORPHA:99949 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Akinesia, Dystonia |
OMIM:300894 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... |
ORPHA:2847 |
Perry Syndrome |
|
Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Superficial Siderosis |
|
Ataxia, Unsteady gait, Dysmetria, Limb ataxia, Anisocoria, Progressive gait ataxia, Dysdiadochoki... |
ORPHA:247245 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypo... |
OMIM:175780 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigme... |
ORPHA:2720 |
Manganese Poisoning |
|
Postural tremor, Gait disturbance, Akinesia, Dystonia |
ORPHA:306682 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aortic valve... |
ORPHA:1120 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology |
ORPHA:250999 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Ataxia |
OMIM:615510 |
Pgm3-Cdg |
|
Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4... |
ORPHA:443811 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Knobloch Syndrome 1 |
|
Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d... |
OMIM:267750 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Dystonia, Zonul... |
OMIM:616271 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Cataract, Microcytic anemia, Band keratopathy, T lymphocytopenia |
ORPHA:2959 |
Retinoblastoma |
|
Leukemia, Leukocoria |
OMIM:180200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatosplenomegaly |
ORPHA:309288 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Cataract, Gait disturbance |
OMIM:616586 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Akinesia |
ORPHA:994 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia |
ORPHA:97349 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Retinoblastoma |
|
Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis |
ORPHA:790 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Multiple pterygia |
OMIM:253290 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract |
OMIM:620327 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... |
OMIM:190685 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Anemi... |
ORPHA:534 |
Trichinellosis |
|
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology |
ORPHA:863 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Pterygium, Akinesia |
OMIM:225790 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Acute Radiation Syndrome |
|
Lymphopenia, Cataract, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Serotonin Syndrome |
|
Tremor, Mydriasis |
ORPHA:43116 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chambe... |
ORPHA:2479 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Anemia, Hypochromic microcytic anemia, Akinesia |
OMIM:619147 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroideremia, Anemia, Iris hypopi... |
ORPHA:2719 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Anemia |
OMIM:608013 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ataxia, Mydriasis |
ORPHA:79138 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Vici Syndrome |
|
Cataract, Ocular albinism, Developmental cataract, Leukopenia, T lymphocytopenia, Neutropenia, De... |
OMIM:242840 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocel... |
ORPHA:508542 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Ataxia, Inability to walk, Splenomegaly, Nuclear cataract, Stomatocyt... |
OMIM:608885 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... |
OMIM:619657 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal... |
OMIM:278730 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Difficulty walking |
OMIM:618653 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Developmental cataract, Astigmatism, Anemia |
ORPHA:86309 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea, Ataxia |
OMIM:249310 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cer... |
ORPHA:67036 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Mydriasis |
ORPHA:2131 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Poikilocytosis, Dystonia |
OMIM:618947 |
Pituitary Apoplexy |
|
Normochromic anemia, Mydriasis |
ORPHA:95613 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
Arachnoid Cyst |
|
Inability to walk, Gait disturbance, Mydriasis |
ORPHA:2356 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Chorioretinal atrophy, Cortical cataract |
OMIM:616468 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Intermediate Uveitis |
|
Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy |
ORPHA:279914 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia |
OMIM:234200 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Ataxia |
OMIM:146500 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... |
OMIM:151100 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot |
OMIM:617925 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect |
OMIM:617063 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... |
OMIM:600001 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:270100 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Neutropenia, Anemia |
OMIM:300755 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Oculodentodigital Dysplasia |
|
Cataract, Ataxia, Abnormality iris morphology, Microcornea, Gait disturbance |
ORPHA:2710 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist... |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract |
OMIM:253800 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Broad-based gait, Cataract, Asplenia, Inability to walk, Abnormal pupil morphology,... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma |
OMIM:235730 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Nijmegen Breakage Syndrome |
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Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... |
OMIM:251260 |
Weill-Marchesani Syndrome 2 |
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Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Sandhoff Disease |
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Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
African Trypanosomiasis |
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Akinesia, Keratitis, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Gait disturbance,... |
ORPHA:3385 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia |
OMIM:269200 |
Sponastrime Dysplasia |
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Microcoria, Cataract, Congenital aphakia, Neutropenia |
ORPHA:93357 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza... |
ORPHA:91500 |
T-Cell Immunodeficiency With Thymic Aplasia |
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T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
Cocaine Intoxication |
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Tremor, Mydriasis |
ORPHA:90068 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Mydriasis |
OMIM:619351 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Ciliary Dyskinesia, Primary, 20 |
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Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Inability to walk, Exaggerated startle response |
OMIM:617864 |
Scorpion Envenomation |
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Tremor, Ataxia, Mydriasis |
ORPHA:466677 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Hydrolethalus Syndrome 1 |
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Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect |
OMIM:236680 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
Witteveen-Kolk Syndrome |
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Anisocoria, Cataract, Iris coloboma |
OMIM:613406 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
8Q24.3 Microdeletion Syndrome |
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Ventricular septal defect, Complete atrioventricular canal defect, Abnormal heart morphology, Tru... |
ORPHA:508488 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Alpha-Fetoprotein Deficiency |
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Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Craniotubular Dysplasia, Ikegawa Type |
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Mydriasis |
OMIM:619727 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Plague |
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Splenomegaly, Conjunctival hyperemia, Unsteady gait, Mydriasis |
ORPHA:707 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormality iris morphology |
ORPHA:91387 |
Neonatal Marfan Syndrome |
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Iridodonesis, Megalocornea, Ectopia lentis |
ORPHA:284979 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Absent anterior chamber of the eye |
OMIM:259770 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Acrofrontofacionasal Dysostosis 1 |
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Iris atrophy |
OMIM:201180 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Neurooculorenal Syndrome |
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Iris atrophy |
OMIM:620305 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Anemia |
ORPHA:438213 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |