Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cataract |
OMIM:617133 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Morm Syndrome |
|
Hyperactivity, Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy, Spastic ataxia |
OMIM:271320 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:1766 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:2815 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... |
OMIM:613310 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:300424 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... |
OMIM:310600 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Optic nerve dysplasia, Progressive cataract |
OMIM:246000 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea |
OMIM:616171 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Posterior subcapsular cataract |
OMIM:617304 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... |
OMIM:616188 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... |
ORPHA:1473 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Pellagra-Like Syndrome |
|
Ataxia, Cataract |
OMIM:260650 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cataract |
ORPHA:3233 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:615434 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy |
OMIM:616722 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract |
OMIM:263100 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Cataract, Rod-cone dystrophy |
OMIM:614879 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:618173 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... |
ORPHA:67043 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract |
ORPHA:171844 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:612572 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... |
OMIM:613581 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Ataxia, Cataract |
ORPHA:3156 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Porokeratosis 1, Multiple Types |
|
Abnormality of chromosome stability |
OMIM:175800 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Cataract |
OMIM:278780 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Maternally-Inherited Diabetes And Deafness |
|
Macular dystrophy, Ataxia, Cataract, Retinopathy, Abnormal chorioretinal morphology |
ORPHA:225 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Broad-based gait, Cataract, Gait ataxia |
OMIM:224050 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Hyperactivity |
OMIM:248510 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Dysmetria, Retinal dystrophy, Ataxia, Cataract |
OMIM:614877 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:602772 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... |
ORPHA:414 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:180105 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract |
ORPHA:65 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microcornea, Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioreti... |
OMIM:152950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... |
ORPHA:279914 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia |
OMIM:300983 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Dysmetria, Progressive gait ataxia, Macular degeneration, Tortuosity of conjunctival vessels, Pro... |
ORPHA:284289 |
Flynn-Aird Syndrome |
|
Ataxia, Cataract, Rod-cone dystrophy |
OMIM:136300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Broad-based gait |
OMIM:619470 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Spastic gait, Cataract, Limb dysmetria |
OMIM:270800 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bone spi... |
OMIM:613810 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Phenylketonuria |
|
Blue irides, Hyperactivity, Attention deficit hyperactivity disorder, Cataract |
OMIM:261600 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Uveal Melanoma |
|
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... |
ORPHA:39044 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Dysmetria, Spastic gait, Ataxia, Tip-toe gait, Cataract, Difficulty walking |
OMIM:609195 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... |
OMIM:604229 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:614083 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... |
OMIM:612109 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Autosomal Recessive Stickler Syndrome |
|
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract |
ORPHA:250984 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy |
OMIM:268050 |
Usher Syndrome Type 3 |
|
Ataxia, Iris hypopigmentation, Astigmatism, Cataract |
ORPHA:231183 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... |
OMIM:221900 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... |
ORPHA:91495 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... |
ORPHA:280921 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... |
OMIM:615986 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:609033 |
Optic Atrophy 11 |
|
Dysmetria, Optic atrophy, Hyperactivity, Ataxia |
OMIM:617302 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... |
OMIM:106210 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait |
ORPHA:411515 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Gait disturbance, Chorioretinal coloboma, Optic nerve hypoplasia, Cataract |
ORPHA:163937 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
Papillorenal Syndrome |
|
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... |
OMIM:120330 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Blue irides |
OMIM:615516 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
Joubert Syndrome 9 |
|
Retinal dystrophy, Astigmatism, Cataract |
OMIM:612285 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
Dystonia, Juvenile-Onset |
|
Cataract, Generalized dystonia |
OMIM:607371 |
Refsum Disease, Classic |
|
Ataxia, Retinal degeneration, Cataract, Rod-cone dystrophy |
OMIM:266500 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Hyperopic astigmatism |
ORPHA:397973 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait disturbance, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Ataxia, Cataract, ... |
ORPHA:88628 |
Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Mend Syndrome |
|
Hyperactivity, Cataract |
OMIM:300960 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy |
ORPHA:369939 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Hyperactivity, Corneal ulceration, Opacification of the corneal stro... |
OMIM:256800 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Werner Syndrome |
|
Retinal degeneration, Cataract |
OMIM:277700 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Retinal degeneration, Hyperactivity, Inability to walk, Ataxia, Astigmatism |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia |
ORPHA:363400 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Ataxia |
ORPHA:530983 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Optic atrophy, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Hyperactivity |
OMIM:614613 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Retinal dystrophy, Optic nerve hypoplasia, Cataract |
OMIM:610125 |
Icf Syndrome |
|
Abnormality of chromosome stability, Umbilical hernia |
ORPHA:2268 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Inability to walk, Cataract |
OMIM:617913 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait |
OMIM:300958 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
Myoclonic-Astatic Epilepsy |
|
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Astigmatism, Hyperopic astigmatism |
ORPHA:363686 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... |
ORPHA:67036 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227646 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Opacification of the corneal stroma, Ataxia |
OMIM:601853 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Keratitis, Ataxia, Cataract, Corneal neovascularization, Conjunctivitis |
OMIM:278730 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Gait disturbance, Dystonia, Retinal degeneration, Bradykinesia, Akinesia, Hyperact... |
OMIM:234200 |
Knobloch Syndrome |
|
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humor morphology, Reti... |
ORPHA:1571 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based gait |
ORPHA:98794 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Hyperactivity, Inability to walk, Ataxia, Iris hypopigmentation... |
ORPHA:72 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy |
OMIM:252930 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness |
ORPHA:8 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Angelman Syndrome |
|
Blue irides, Hyperactivity, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Joubert Syndrome 1 |
|
Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dystrophy, Optic disc colob... |
OMIM:213300 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Cataract |
ORPHA:137605 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia |
OMIM:610042 |
Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... |
ORPHA:649 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Gait disturbance, Retinal degeneration, Loss of ambulation, Rod-cone dystrophy, Hy... |
ORPHA:581 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Retinal dystrophy, Astigmatism |
OMIM:617052 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormality of the optic disc |
OMIM:617516 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Abnormality of chromosome stability |
ORPHA:175 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Microcornea |
OMIM:600268 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Rod-cone dystrophy, Iris coloboma, Hyperactivity, Megalocornea |
OMIM:223370 |
Monosomy 9Q22.3 |
|
Hyperactivity, Cataract, Retinopathy |
ORPHA:77301 |
Hallermann-Streiff Syndrome |
|
Chorioretinal coloboma, Optic disc coloboma, Iris coloboma, Hyperactivity, Cataract |
OMIM:234100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Papilledema, Hyperactiv... |
ORPHA:580 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Spina bifida, Umbilical hernia |
ORPHA:84 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Hyperactivity, Corneal ulceration, Difficulty walking, Decreased corneal reflex |
ORPHA:642 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |