Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Galactosemia Ii |
|
Galactosuria, Cataract |
OMIM:230200 |
Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy |
OMIM:602475 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract |
ORPHA:2278 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Cataract |
OMIM:146200 |
Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... |
ORPHA:63259 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l... |
OMIM:308940 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
|
ORPHA:88639 |