| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... |
OMIM:177650 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... |
ORPHA:39044 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Abnormality of the kidney, Micrope... |
ORPHA:75858 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract |
ORPHA:79281 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis |
OMIM:619365 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage... |
OMIM:617610 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Cataract |
OMIM:165300 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Miosis |
OMIM:156850 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... |
ORPHA:1067 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Iatrogenic Botulism |
|
Mydriasis, Dysphagia, Urinary retention |
ORPHA:254509 |
| Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Wound Botulism |
|
Mydriasis, Dysphagia, Urinary retention |
ORPHA:178475 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Intestinal Botulism |
|
Mydriasis, Dysphagia |
ORPHA:178481 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Dysphagia |
ORPHA:230800 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Galactosemia Iv |
|
Hepatomegaly, Cataract |
OMIM:618881 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Botulism |
|
Mydriasis, Dysphagia, Urinary retention |
ORPHA:1267 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... |
OMIM:143200 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Serotonin Syndrome |
|
Mydriasis, Acute kidney injury, Tremor, Restlessness, Agitation |
ORPHA:43116 |
| Foodborne Botulism |
|
Mydriasis, Dysphagia, Urinary retention |
ORPHA:228371 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... |
ORPHA:190 |
| Inhalational Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254504 |
| Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... |
ORPHA:179 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca, Dysphagia, Anorexia |
ORPHA:178478 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Retinitis Pigmentosa 40 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:613801 |
| Norrie Disease |
|
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive ... |
OMIM:310600 |
| Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Oral-pharyngeal dysphagia, Cardiomyopathy, Tremor, Aggressive behavior, Anorexia, Dyst... |
ORPHA:2131 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... |
OMIM:204000 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... |
OMIM:619902 |
| Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Eye poking, ... |
OMIM:204100 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
| Aniridia 2 |
|
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Miller Fisher Syndrome |
|
Mydriasis, Anisocoria, Dysphagia |
ORPHA:98919 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity |
ORPHA:85288 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Cataract, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... |
ORPHA:1473 |
| Phenylketonuria |
|
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... |
OMIM:261600 |
| Cone-Rod Dystrophy 16 |
|
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... |
OMIM:614500 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention defi... |
OMIM:620141 |
| Retinitis Pigmentosa 9 |
|
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... |
OMIM:180104 |
| Hec Syndrome |
|
Cardiomyopathy, Endocardial fibroelastosis, Abnormal pupil morphology, Abnormal retinal vascular ... |
ORPHA:2119 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... |
OMIM:613835 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... |
OMIM:614292 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity |
ORPHA:90654 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Mydriasis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Optic disc pallor |
OMIM:259720 |
| Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:239500 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Retinal infarction, Atrial septal defect |
OMIM:613834 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
| Microcoria, Congenital |
|
Miosis, Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... |
OMIM:602088 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Increased urinary disaccharide excretion, Hyperactivity, Tortuosity of conju... |
OMIM:248510 |
| Arachnoid Cyst |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Mydriasis, Disinhibition |
ORPHA:2356 |
| Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Retinitis Pigmentosa 84 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:618220 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Mydriasis, Anuria, Megacystis, Pyelonephritis, Fetal megacystis |
OMIM:619351 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... |
OMIM:611040 |
| Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... |
OMIM:613731 |
| Phacoanaphylactic Uveitis |
|
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... |
ORPHA:209959 |
| Retinopathy Of Prematurity |
|
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... |
ORPHA:90050 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... |
ORPHA:3156 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... |
ORPHA:54 |
| Cocaine Intoxication |
|
Acute kidney injury, Mydriasis, Tremor, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerst... |
ORPHA:90068 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Aminoaciduria |
ORPHA:79238 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... |
OMIM:193230 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Ventricular septal defect, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic rena... |
OMIM:613730 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... |
OMIM:106210 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Dystonia, Hyperactivity, Tremor |
OMIM:615924 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity, Cataract |
OMIM:620425 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Scorpion Envenomation |
|
Acute kidney injury, Mydriasis, Ketonuria, Glycosuria, Tremor, Myocarditis, Miosis, Restlessness |
ORPHA:466677 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... |
OMIM:619649 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Miosis, Retinal detachment, Macular atrophy, ... |
OMIM:212550 |
| Amyloidosis, Finnish Type |
|
Cataract, Cardiomyopathy, Stage 5 chronic kidney disease, Renal insufficiency, Urolithiasis, Neph... |
OMIM:105120 |
| Transketolase Deficiency |
|
Self-injurious behavior, Increased level of ribose in urine, Cataract, Abnormal heart morphology,... |
ORPHA:488618 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:616108 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Mydriasis, Optic nerve compression, Ventricular septal defect, Optic neuropathy |
OMIM:619727 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... |
OMIM:251270 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... |
ORPHA:91495 |
| Cataract 48 |
|
Cataract, Miosis |
OMIM:618415 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides |
OMIM:615516 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Cata... |
OMIM:203780 |
| Hyperlysinemia, Type I |
|
Hyperlysinuria, Ectopia lentis, Cystinuria, Hyperactivity, Ornithinuria, Homocitrullinuria, Argin... |
OMIM:238700 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, 3-Methylglutaconic aciduria, Cardiomyopathy |
ORPHA:67048 |
| Intermediate Uveitis |
|
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior ... |
ORPHA:279914 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten... |
OMIM:152950 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... |
OMIM:616468 |
| Coats Disease |
|
Leukocoria, Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... |
OMIM:619827 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... |
ORPHA:891 |
| Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract... |
ORPHA:414 |
| Bardet-Biedl Syndrome 9 |
|
Cataract, Polydipsia, Attenuation of retinal blood vessels, Renal insufficiency, Astigmatism, Ret... |
OMIM:615986 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Aggressive behavior, Enuresis, Dysphagia, Anisocoria |
ORPHA:289483 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Refsum Disease, Classic |
|
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Rod-cone dystrophy, Miosis, Abnorma... |
OMIM:266500 |
| Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... |
OMIM:312600 |
| Stickler Syndrome, Type V |
|
Cataract, Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Cardiomegaly, Hydronephro... |
OMIM:608836 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, C... |
OMIM:615415 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Chorioretinal hypopigmentation, Optic atrophy, Focal segmental glomerulosclerosis, Nephritis, Hyp... |
OMIM:617303 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Polyphagia, Macular dystrophy, Macroscopic hematuria, Membranoproliferative glomerul... |
ORPHA:251004 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
| Pierson Syndrome |
|
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Hy... |
OMIM:609049 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Lens luxatio... |
OMIM:120330 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Abnormal renal physiology |
ORPHA:85447 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract |
ORPHA:570422 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Retinal detachment, Limb... |
ORPHA:2969 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... |
OMIM:314390 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... |
ORPHA:280921 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Cataract, Ectopia lentis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Nephrolithiasis, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Ca... |
OMIM:308940 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Dysphagia |
OMIM:607371 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Vitreoretinopathy, Bifid ureter, Lens subluxation, Attenuation of retinal blood... |
OMIM:267750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Alagille Syndrome |
|
Keratoconus, Abnormality of the ureter, Abnormal pupil morphology, Renal hypoplasia/aplasia, Vent... |
ORPHA:52 |
| Plague |
|
Mydriasis, Splenomegaly, Conjunctival hyperemia, Anorexia, Hepatomegaly, Endocarditis |
ORPHA:707 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, P... |
OMIM:261740 |
| Familial Dysautonomia |
|
Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Glomerulopat... |
ORPHA:1764 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Cataract, Hydroureter, Cardiomyopathy, Tremor, Hydronephro... |
OMIM:222300 |
| Joubert Syndrome 9 |
|
Cataract, Stage 5 chronic kidney disease, Astigmatism, Retinal dystrophy |
OMIM:612285 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Dilated cardiomyopathy |
OMIM:615184 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... |
OMIM:618052 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular s... |
OMIM:620609 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cataract, Visceromegaly, Cherry red spot of the macula, Abnormal heart morphology,... |
ORPHA:93399 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ac... |
OMIM:604278 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Distal Deletion 6P |
|
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Anterior synechiae of the ante... |
ORPHA:96125 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... |
OMIM:252920 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Renal hypoplasia, Attenuation of retinal blood vessels, Stage 5 chronic kidney disease,... |
OMIM:614376 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... |
OMIM:268315 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Urinar... |
ORPHA:505248 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Retinal coloboma, Bi... |
ORPHA:500095 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Situs inversus totalis, S... |
OMIM:208540 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Ventricular sept... |
OMIM:608978 |
| Peroxisome Biogenesis Disorder 10B |
|
Cataract, Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Abnormal pupil shape, Slow pupillary light response, Torticollis, Miosis, Anisocoria, O... |
ORPHA:45358 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Polyuria, Hyperactivity, Self-biting, Renal potassium ... |
OMIM:618314 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Neurogenic bladder, Macular degeneration, Dysphagia |
OMIM:619780 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Wagro Syndrome |
|
Cataract, Aniridia, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Corneal opacity... |
OMIM:612469 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Bruxism, Astigm... |
OMIM:615873 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Duane Retraction Syndrome |
|
Blepharospasm, Iris coloboma, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central... |
ORPHA:233 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Patent foramen ovale, Tremor, Hydronephrosis, Atrial septal defect, Exaggerated startle... |
OMIM:620327 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnorma... |
ORPHA:649 |
| Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Corneal arcus, Enlarged kidney |
ORPHA:168569 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Retinal detachment |
OMIM:219250 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias |
OMIM:615877 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal heart morphology, Abnormal renal artery morphology, Ventricul... |
ORPHA:79328 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hep... |
OMIM:252500 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior synechiae of the anterior chamber, Retinal vasculitis, Anorexia, Tubulointerstitial nep... |
ORPHA:91500 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... |
ORPHA:85167 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Cataract, Renal insufficiency, Mitral valve prolapse |
OMIM:247410 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Ectopia pupillae, Con... |
OMIM:608940 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Motor stereotyp... |
ORPHA:534 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Renal insu... |
OMIM:276700 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pericardial effusion, Enlarged kidney |
ORPHA:464329 |
| Legius Syndrome |
|
Cataract, Male urethral meatus stenosis, Mitral valve prolapse, Nephroblastoma, Nephrolithiasis, ... |
ORPHA:137605 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... |
OMIM:256800 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria |
ORPHA:90658 |
| Trichinellosis |
|
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Abnorm... |
ORPHA:863 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
| Stromme Syndrome |
|
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral renal hypoplasia, H... |
OMIM:243605 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia |
OMIM:613091 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... |
ORPHA:116 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Motor stereotypy, Micropenis, Anisoc... |
OMIM:618653 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypopigmentation of the fundus, Ectopia pupillae, Retinal arteriolar tortuosity, Hyp... |
OMIM:175780 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Micropenis, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... |
ORPHA:731 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Cataract, Pyelonephritis, Renal insufficiency, Cardi... |
OMIM:181270 |
| Sympathetic Ophthalmia |
|
Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an... |
ORPHA:79098 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
| Knobloch Syndrome |
|
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Bifid ureter, Vesicoureteral r... |
ORPHA:1571 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Cataract, Renal artery stenosis... |
OMIM:617913 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos |
OMIM:613150 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Anisocoria |
OMIM:231550 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Attention deficit hyperactivity disorder, Double outlet right ventricle, Atrial... |
OMIM:618223 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Cataract, Pigmentary retinopathy, Renal hypoplasia, Microcorn... |
OMIM:118450 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Hepatomegaly, Motor stereotypy, Abnormal heart morphology, Reti... |
ORPHA:580 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Abnormal optic nerve morphology, Head tremor, Abnormal pupillary light reflex, Ani... |
ORPHA:99949 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Tubulointerstitia... |
ORPHA:79259 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur... |
ORPHA:47159 |
| Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis |
OMIM:180200 |
| Tuberous Sclerosis Complex |
|
Chorioretinal hypopigmentation, Self-injurious behavior, Chronic kidney disease, Retinal astrocyt... |
ORPHA:805 |
| Retinoblastoma |
|
Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl... |
ORPHA:790 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Iris coloboma, Pigmentary retinopathy, Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Leukocoria, Retinal detachment, Displacement of the urethral meatus |
ORPHA:1556 |
| Blau Syndrome |
|
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Cystoid macular edema, Pericarditi... |
OMIM:186580 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Dysphagia |
OMIM:615510 |
| Revesz Syndrome |
|
Leukocoria, Exudative retinopathy, Megalocornea |
OMIM:268130 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Ectopia pupillae, Axenfeld anomaly, Ventricu... |
ORPHA:261552 |
| Proteus Syndrome |
|
Cataract, Retinal nonattachment, Long penis, Chorioretinal coloboma, Central heterochromia, Abnor... |
ORPHA:744 |
| Phace Syndrome |
|
Retinal vascular malformation, Cataract, Tetralogy of Fallot, Abnormal heart morphology, Heteroch... |
ORPHA:42775 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Cataract, Posterior subcapsular cataract, Resting tremor, Cerulean cataract, Anter... |
ORPHA:67036 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Enlarged ovaries, Hypercalciuria, Hepa... |
ORPHA:508 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Splenomegal... |
OMIM:312870 |
| Mowat-Wilson Syndrome |
|
Iris coloboma, Microcornea, Cataract, Chorioretinal coloboma, Ectopia pupillae, Abnormal heart mo... |
OMIM:235730 |
| Superficial Siderosis |
|
Anisocoria, Functional abnormality of the bladder |
ORPHA:247245 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Witteveen-Kolk Syndrome |
|
Cataract, Iris coloboma, Microphallus, Male urethral meatus stenosis, Phimosis, Aggressive behavi... |
OMIM:613406 |
| Progressive Supranuclear Palsy |
|
Abnormal synaptic transmission |
ORPHA:683 |
| Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Ectopia pupillae, Rieger anomaly, Ventricular septal defect, Motor stereotypy, Atr... |
OMIM:194190 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal heart valve morphology, Cystocele, Abnormal pupil morphology, Mitral valve ... |
ORPHA:286 |
| Sponastrime Dysplasia |
|
Cataract, Hypospadias, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
