Gene Summary

Name:
nuclear receptor subfamily 1, group D, member 2
Synonyms:
Rev-erb beta,  RVR

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased B cell number Nr1d2tm1Dgen HOM   Early adult 5.52×10-07
abnormal iris morphology Nr1d2tm1Dgen HOM Early adult 3.35×10-07
abnormal pupil morphology Nr1d2tm1Dgen HOM Early adult 3.65×10-05
abnormal lens morphology Nr1d2tm1Dgen HOM Early adult 5.01×10-06
abnormal locomotor activation Nr1d2tm1Dgen HOM Early adult 7.01×10-06
increased circulating alanine transaminase level Nr1d2em1(IMPC)Mbp HOM Early adult 8.51×10-07
increased startle reflex Nr1d2tm1Dgen HOM Early adult 3.49×10-05
decreased T cell number Nr1d2tm1Dgen HOM   Early adult 8.21×10-08
decreased CD8-positive, alpha-beta T cell number Nr1d2tm1Dgen HOM   Early adult 4.92×10-09
abnormal eye morphology Nr1d2tm1Dgen HOM Early adult 9.69×10-08
cataract Nr1d2tm1Dgen HOM Early adult 5.01×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Nr1d2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr1d2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis OMIM:619608
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Pyknoachondrogenesis
Stillbirth OMIM:265880
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect OMIM:253300
Nathalie Syndrome
Cataract ORPHA:2663
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Death in infan... ORPHA:1354
Geniospasm 1
Anxiety OMIM:190100
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract OMIM:165300
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Trichomegaly
Cataract OMIM:190330
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
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
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Alexander Disease
Microcoria, Dysmetria, Ataxia OMIM:203450
White Forelock With Malformations
Atrial septal defect OMIM:277740
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy OMIM:614876
Conotruncal Heart Malformations
Double outlet right ventricle, Complete atrioventricular canal defect, Transposition of the great... OMIM:217095
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Cardiomyopathy, Dilated, 2E
Death in childhood, Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve OMIM:619492
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Galactosemia Ii
Cataract OMIM:230200
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract OMIM:273680
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract OMIM:278780
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Gait ataxia, C... OMIM:224050
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Atrioventricular canal defect, Unbala... OMIM:619534
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia ORPHA:2248
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, B lymphocytopenia, T lymphocytopenia OMIM:601457
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Nathalie Syndrome
Cataract OMIM:255990
Leukodystrophy, Hypomyelinating, 24
Cataract, B lymphocytopenia OMIM:619851
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Mydriasis, Progressive gait ataxia ORPHA:247815
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:615559
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Unsteady ga... ORPHA:240094
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Gait disturbance, Cataract, Tip-toe gait OMIM:617404
Proteus-Like Syndrome
Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Thymus hyperplasia, Cataract, Heterochro... ORPHA:2969
Cataract 11, Multiple Types
Cataract OMIM:610623
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Cataract ORPHA:1875
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
3-Methylglutaconic Aciduria, Type Viii
Tremor, Cataract, Dystonia, Neutropenia OMIM:617248
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract, Chorioretinal coloboma OMIM:212550
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Facial Spasm
Anisocoria OMIM:134300
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Difficulty walking, Cataract, Spastic gait, Dystonia OMIM:609195
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Usher Syndrome Type 3
Iris hypopigmentation, Ataxia, Cataract, Astigmatism ORPHA:231183
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect OMIM:263630
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... ORPHA:2729
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Cataract 47
Cataract, Microcornea OMIM:612018
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Chorioretinal coloboma ORPHA:1473
Revesz Syndrome
Ataxia, Megalocornea, Aplastic anemia, Leukocoria, Bone marrow hypocellularity OMIM:268130
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Cataract OMIM:616468
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Gait ataxia, Abnormal proportion of CD4-positive T ... ORPHA:217260
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Mevalonic Aciduria
Ataxia, Cataract, Splenomegaly ORPHA:29
Charcot-Marie-Tooth Disease Type 1E
Gait imbalance, Inability to walk, Abnormal pupil morphology, Anisocoria, Gait disturbance, Diffi... ORPHA:90658
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Dystonia, Short stepped... ORPHA:391411
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Retinitis Pigmentosa 40
Cataract OMIM:613801
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Parkinson Disease 17
Tremor, Akinesia, Resting tremor OMIM:614203
Coats Disease
Leukocoria OMIM:300216
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Familial Dysautonomia
Corneal opacity, Ataxia, Abnormal pupil morphology, Gait disturbance, Corneal erosion, Heterochro... ORPHA:1764
Alpha-Methylacyl-Coa Racemase Deficiency
Intention tremor, Tremor, Ataxia, Cataract OMIM:614307
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intent... ORPHA:284289
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Resting tremor, Postural tremor, Dystonia OMIM:619911
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Neonatal death, Dilated cardiomyopathy, Left atrial enlargement, Myocardial sa... OMIM:619897
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Retinitis Pigmentosa 84
Cataract OMIM:618220
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Usher Syndrome Type 1
Iris hypopigmentation, Ataxia, Cataract ORPHA:231169
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Axial dystonia, Blepharospasm, Falls, Tremor, Dystonia, Conjunctival hy... ORPHA:240071
Spinocerebellar Ataxia Type 21
Tremor, Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Autosomal Recessive Spastic Paraplegia Type 26
Gait disturbance, Cataract, Dystonia ORPHA:101006
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Gait ataxia, Post... OMIM:607454
Nephronophthisis 11
Anemia, Anisocoria OMIM:613550
Congenital Varicella Syndrome
Cataract ORPHA:291
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Patent foramen ovale OMIM:619967
Retinitis Pigmentosa 4
Cataract OMIM:613731
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Corticobasal Syndrome
Akinesia, Gait disturbance, Tremor, Limb dystonia, Dystonia ORPHA:454887
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... OMIM:616749
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale OMIM:601450
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Neutropenia ORPHA:2643
Dystonia, Juvenile-Onset
Leg dystonia, Loss of ambulation, Oculogyric crisis, Cataract, Generalized dystonia OMIM:607371
Proximal Myotonic Myopathy
Cataract ORPHA:606
Duane Retraction Syndrome
Hypoplastic iris stroma, Abnormal pupil morphology, Blepharospasm, Microcornea, Iris coloboma, Ce... ORPHA:233
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Cataract, Corneal erosion OMIM:614878
Grange Syndrome
Ventricular septal defect ORPHA:79094
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death, Abnormal heart morphology OMIM:613390
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Distal Monosomy 6P
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... ORPHA:96125
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Ataxia, Dysmetria, Intention tremor, Cataract OMIM:612674
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Vent... OMIM:612561
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Splenomegaly, Hemolytic anemia, Cataract OMIM:608885
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Peroxisome Biogenesis Disorder 9B
Ataxia, Cataract OMIM:614879
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Selective Igm Deficiency
Keratitis, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transiti... ORPHA:331235
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:612946
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect OMIM:613355
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent foramen ovale OMIM:610338
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Choriocapillaris atrophy, Keratoconus, Cataract OMIM:613835
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Congenitally corrected transposition of the great arteries, Unbalanced at... OMIM:618300
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... ORPHA:261183
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Microcytic anemia, Cataract OMIM:618805
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology ORPHA:401935
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Abnormal B cell morphology OMIM:618223
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Aase-Smith Syndrome I
Ventricular septal defect, Death in infancy OMIM:147800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-pos... ORPHA:3261
Aceruloplasminemia
Torticollis, Akinesia, Ataxia, Blepharospasm, Limb ataxia, Hypochromic microcytic anemia, Craniof... ORPHA:48818
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Anisocoria OMIM:231550
Heterotaxy, Visceral, 1, X-Linked
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:306955
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Abnormal e... ORPHA:1880
Intestinal Botulism
Mydriasis ORPHA:178481
Ataxia-Telangiectasia
Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Intention tremor, Hypoplas... OMIM:208900
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane OMIM:613150
Spastic Paraplegia 9B, Autosomal Recessive
Gait disturbance, Tremor, Cataract OMIM:616586
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... ORPHA:2847
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Situs inversus totalis OMIM:249270
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Mitral valve prolapse, Patent foram... OMIM:212093
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Cataract, Chorioret... ORPHA:414
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Shuffling gait, Gait atax... ORPHA:247234
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Lymphopenia, Opisthotonus, T lymphocytopenia, Decreased proportion of CD8-posi... ORPHA:508533
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Hypochromic anemia, Iris hypopigmentation, Abnormality of neutrophils, C... ORPHA:2720
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Kufor-Rakeb Syndrome
Torticollis, Akinesia, Ataxia, Gait disturbance, Tremor, Dystonia OMIM:606693
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Iatrogenic Botulism
Mydriasis ORPHA:254509
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Anisocoria, Head tremor, Difficulty walking, Gait ataxia ORPHA:99949
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Wound Botulism
Mydriasis ORPHA:178475
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Thrombocytopenia, Tremor, Cataract, Sideroblastic anemia OMIM:222300
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Superficial Siderosis
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Anisocoria, Unsteady gait, Progressive gait a... ORPHA:247245
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Manganese Poisoning
Gait disturbance, Akinesia, Dystonia, Postural tremor ORPHA:306682
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Knobloch Syndrome 1
Ataxia, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect,... OMIM:267750
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Inhalational Botulism
Mydriasis ORPHA:254504
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti... ORPHA:443811
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:613870
Autosomal Dominant Cerebellar Ataxia
Torticollis, Akinesia, Action tremor, Progressive cerebellar ataxia, Laryngeal dystonia, Resting ... ORPHA:99
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... OMIM:615474
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Perry Syndrome
Tremor, Akinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Oculoauricular Syndrome
Microphakia, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, ... OMIM:612109
Retinoblastoma
Leukemia, Leukocoria OMIM:180200
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Zonular cataract, Opisthotonus, Leukopenia, Tremor, Choreoathetosis, Cataract, Neutropeni... OMIM:616271
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Band keratopathy, T lymphocytopenia, Microcytic anemia, Cataract ORPHA:2959
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Osteopetrosis, Autosomal Recessive 5
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... OMIM:259720
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect OMIM:600123
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... OMIM:615355
Alacrima, Achalasia, And Mental Retardation Syndrome
Ataxia, Anisocoria OMIM:615510
Botulism
Mydriasis ORPHA:1267
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect OMIM:608406
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy OMIM:607598
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Retinoblastoma
Hypopyon, Leukocoria, Uveitis, Heterochromia iridis, Leukemia ORPHA:790
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Alpha-Mannosidosis, Adult Form
Corneal opacity, Ataxia, Hepatosplenomegaly, Cataract, Pancytopenia ORPHA:309288
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Foodborne Botulism