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Gene: Nr1d2 MGI:2449205

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased T cell number Nr1d2tm1Dgen HOM Early adult 8.21×10-08
increased startle reflex Nr1d2tm1Dgen HOM Early adult 3.49×10-05
increased circulating alanine transaminase level Nr1d2em1(IMPC)Mbp HOM Early adult 4.13×10-05
abnormal locomotor activation Nr1d2tm1Dgen HOM Early adult 7.01×10-06
abnormal lens morphology Nr1d2tm1Dgen HOM Early adult 5.01×10-06
abnormal eye morphology Nr1d2tm1Dgen HOM Early adult 9.69×10-08
abnormal iris morphology Nr1d2tm1Dgen HOM Early adult 3.35×10-07
cataract Nr1d2tm1Dgen HOM Early adult 5.01×10-06
abnormal pupil morphology Nr1d2tm1Dgen HOM Early adult 3.65×10-05
increased B cell number Nr1d2tm1Dgen HOM Early adult 5.52×10-07
decreased CD8-positive, alpha-beta T cell number Nr1d2tm1Dgen HOM Early adult 4.92×10-09

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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

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X-ray

XRay Images Whole Body Dorso Ventral

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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
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
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
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
X-Linked Retinoschisis
Cataract ORPHA:792
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Pyknoachondrogenesis
Stillbirth OMIM:265880
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Nathalie Syndrome
Cataract ORPHA:2663
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:2815
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu... ORPHA:1354
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
White Forelock With Malformations
Atrial septal defect OMIM:277740
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Alexander Disease
Microcoria, Dysmetria, Ataxia OMIM:203450
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Conotruncal Heart Malformations
Transposition of the great arteries, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Death in childhood, Death in infancy OMIM:619492
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor, Ataxia OMIM:278780
Galactosemia Ii
Cataract OMIM:230200
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Galactosemia Iv
Cataract OMIM:618881
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Dysmetria, Cerebellar ataxia associa... OMIM:224050
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Unsteady gait OMIM:620312
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia ORPHA:2248
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Atrioventricular canal d... OMIM:619534
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
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
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Nathalie Syndrome
Cataract OMIM:255990
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia ORPHA:247815
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Conjunctivitis, Abnormal T cell count, Abn... OMIM:613493
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect OMIM:614954
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect OMIM:615524
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Cataract, Vacuolated lymphocytes OMIM:204200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, T lymphocytopenia, B lymphocytopenia OMIM:601457
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Limb... ORPHA:2969
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism, Ataxia ORPHA:231183
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Facial Spasm
Anisocoria OMIM:134300
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Revesz Syndrome
Bone marrow hypocellularity, Broad-based gait, Aplastic anemia, Megalocornea, Macrocytic anemia, ... OMIM:268130
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Leukodystrophy, Hypomyelinating, 24
Cataract, B lymphocytopenia OMIM:619851
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Charcot-Marie-Tooth Disease Type 1E
Difficulty walking, Inability to walk, Abnormal pupil morphology, Gait imbalance, Steppage gait, ... ORPHA:90658
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Retinitis Pigmentosa 40
Cataract OMIM:613801
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Iris coloboma ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Cataract 47
Cataract, Microcornea OMIM:612018
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Gait ataxia, Abnormal proportion of CD4-positive T ... ORPHA:217260
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Gait disturbance, Corneal opacity, Ataxia, Corne... ORPHA:1764
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Coats Disease
Leukocoria OMIM:300216
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia OMIM:619911
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Ataxia ORPHA:231169
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, Conjunctival hyperemia, D... ORPHA:240071
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progressive gait ataxia, Tr... ORPHA:284289
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Intention tremor, Tremor, Ataxia OMIM:614307
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98773
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Dystonia, Intention tremor, Progress... OMIM:607454
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Cardiomyopathy, Dilated, 2G
Dilated cardiomyopathy, Myofiber disarray, Neonatal death, Left atrial enlargement, Myocardial sa... OMIM:619897
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Aniridia 3
Cataract, Aniridia OMIM:617142
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Gait disturbance ORPHA:1875
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Dystonia, Gait disturbance ORPHA:101006
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Corticobasal Syndrome
Akinesia, Limb dystonia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Nephronophthisis 11
Anemia, Anisocoria OMIM:613550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Congenital Varicella Syndrome
Cataract ORPHA:291
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Dysmetria, Subcapsular cataract, Ataxia, Intention tremor OMIM:612674
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Proximal Myotonic Myopathy
Cataract ORPHA:606
Miller Fisher Syndrome
Mydriasis, Anisocoria, Ataxia ORPHA:98919
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Neutropenia ORPHA:2643
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion OMIM:614878
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Cataract 48
Cataract OMIM:618415
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Grange Syndrome
Ventricular septal defect ORPHA:79094
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Dystonia-Deafness Syndrome 1
Cataract, Oculogyric crisis, Generalized dystonia, Leg dystonia, Loss of ambulation OMIM:607371
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:613835
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Selective Igm Deficiency
Decreased proportion of transitional B cells, Keratitis, Cutaneous abscess, Decreased proportion ... ORPHA:331235
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased B cell count ORPHA:98813
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Lymphopenia, Decreased proportion of CD4-positive helper T... OMIM:208900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae OMIM:618223
Aceruloplasminemia
Blepharospasm, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Tremor, Craniofacial dystonia, Hypochr... ORPHA:48818
Duane Retraction Syndrome
Blepharospasm, Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pup... ORPHA:233
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape, Torticollis ORPHA:45358
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A... OMIM:306955
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Broad-based gait OMIM:618805
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Immunodeficiency 115 With Autoinflammation
Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly OMIM:620632
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Ataxia, Abnormal vesti... ORPHA:247234
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Ataxia OMIM:231550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal degeneration, Chorioretinal ... ORPHA:414
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect OMIM:147800
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Inability to walk, Hypereosinophilia, ... ORPHA:508533
Intestinal Botulism
Mydriasis ORPHA:178481
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Kufor-Rakeb Syndrome
Akinesia, Tremor, Gait disturbance, Torticollis, Ataxia, Dystonia OMIM:606693
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Charcot-Marie-Tooth Disease Type 4C
Difficulty walking, Inability to walk, Head tremor, Gait ataxia, Anisocoria ORPHA:99949
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Akinesia, Tremor OMIM:300894
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Perry Syndrome
Short stepped shuffling gait, Dystonia, Akinesia, Tremor OMIM:168605
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Death in childhood, Death in infan... OMIM:608978
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Ataxia, Abnormality of neut... ORPHA:2720
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Manganese Poisoning
Dystonia, Gait disturbance, Akinesia, Postural tremor ORPHA:306682
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Limb dystonia, Astigmatism, Corneal neovas... OMIM:175780
Superficial Siderosis
Limb ataxia, Dysmetria, Progressive gait ataxia, Ataxia, Unsteady gait, Anisocoria, Dysdiadochoki... ORPHA:247245
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... OMIM:267750
Iatrogenic Botulism
Mydriasis ORPHA:254509
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Pgm3-Cdg
Ataxia, Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, C... ORPHA:443811
Wolfram Syndrome 1
Cataract, Sideroblastic anemia, Tremor, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:222300
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Wound Botulism
Mydriasis ORPHA:178475
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia OMIM:615510
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Hyposegmentation of neutrophil nuclei ORPHA:250999
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca... OMIM:264480
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Cataract, Leukopenia, Tremor, Opisthotonus, Neutropenia, Thrombocytopenia, Zonular catara... OMIM:616271
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Inhalational Botulism
Mydriasis ORPHA:254504
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Broad-based gait, Band keratopathy, Microcytic anemia, T lymphocytopenia ORPHA:2959
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Retinoblastoma
Leukemia, Leukocoria OMIM:180200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenome... OMIM:259720
Postencephalitic Parkinsonism
Akinesia, Tremor by anatomical site, Resting tremor, Oculogyric crisis ORPHA:97349
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Ataxia ORPHA:309288
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Gait disturbance, Tremor OMIM:616586
Fetal Akinesia Deformation Sequence
Pterygium, Akinesia ORPHA:994
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Atrioventricular canal defect, Situs inversus totalis, Mesocardia, Transpo... OMIM:605376
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Botulism
Mydriasis ORPHA:1267
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Exaggerated startle response OMIM:620327
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Neonatal death OMIM:619362
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Leukemia, Uveitis ORPHA:790
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Multiple pterygia OMIM:253290
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Pterygium, Akinesia OMIM:225790
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea ORPHA:370959
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Congenital Myopathy 9A
Akinesia OMIM:618822
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Thrombocytopenia, Chorioretina... ORPHA:534
Trichinellosis
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria ORPHA:863
Foodborne Botulism
Mydriasis ORPHA:228371
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Limb dystonia, Resting tremor OMIM:616840
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma ORPHA:139471
Acute Radiation Syndrome
Cataract, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Serotonin Syndrome
Mydriasis, Tremor ORPHA:43116
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Akinesia, Hypochromic microcytic anemia OMIM:619147
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... ORPHA:649
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Choroideremia, Corneal opacity, Anemia,... ORPHA:2719
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytope... ORPHA:508542
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Akinesia, Splenomegaly, Opisthotonus, Thrombocytopenia, Anemia OMIM:608013
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Stomatocytosis, Inability to walk, Splenomegaly, Ataxia, Hemolytic an... OMIM:608885
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria, Ataxia ORPHA:79138