Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... |
OMIM:194072 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
WAGR 11p13 deletion syndrome |
|
Abnormality of the male genitalia, Aniridia |
DECIPHER:35 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... |
ORPHA:363741 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decreased testicular ... |
OMIM:612469 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Abnormal vitreous humor morpho... |
ORPHA:2788 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Corneal dystrophy, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal opt... |
ORPHA:1101 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... |
ORPHA:891 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d... |
ORPHA:899 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... |
OMIM:221900 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Bicornuate uterus, Abnormality of the uterus, Umbilical he... |
ORPHA:2143 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cryptorchidism, Neonatal death, Microphthalmia |
OMIM:613730 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... |
ORPHA:290 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla... |
ORPHA:3378 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... |
ORPHA:139471 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism |
ORPHA:250984 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia |
ORPHA:1466 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
Eales Disease |
|
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... |
ORPHA:40923 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Cryptorchidism, Developmental cataract, Micropenis |
OMIM:618815 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:275400 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Umbilical hernia, Iris coloboma, Chorioretinal coloboma |
OMIM:617662 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... |
OMIM:610125 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... |
OMIM:180500 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
D-Lactic Aciduria With Gout |
|
Aniridia |
OMIM:245450 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis |
OMIM:613094 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, R... |
OMIM:236670 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Distal Deletion 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechiae... |
ORPHA:96125 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocu... |
ORPHA:324416 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology |
ORPHA:93296 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... |
ORPHA:2969 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abn... |
ORPHA:370959 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... |
OMIM:600118 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Bicornuate uterus, Umbil... |
OMIM:222448 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Corneal opacity, Cataract |
ORPHA:317 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma |
OMIM:308100 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia |
ORPHA:2440 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... |
OMIM:252650 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Cryptorchidism, Microphthalmia |
OMIM:601349 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... |
ORPHA:233 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma, Corneal opacity |
ORPHA:281090 |
Axenfeld-Rieger Syndrome |
|
Hypospadias, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Abnormality of... |
ORPHA:782 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty |
ORPHA:496790 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Adrenal ... |
ORPHA:29072 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract |
ORPHA:1856 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia |
OMIM:615524 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus |
ORPHA:163649 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Bresek Syndrome |
|
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Neonatal death, Microphthalmia... |
ORPHA:85284 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Anophthalmia, P... |
ORPHA:564 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... |
OMIM:615663 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Pierpont Syndrome |
|
Microcornea, Cryptorchidism, Microphthalmia |
ORPHA:487825 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... |
OMIM:614222 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplastic labia... |
OMIM:614225 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:614643 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Myelomeningocele, Optic atrop... |
OMIM:305600 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism |
ORPHA:1381 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris, Male pseudohermaphroditism, Optic disc coloboma |
OMIM:600092 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Hypoplasia of the iris, Male pseudohermaphroditism, Chorioretinal coloboma |
ORPHA:1422 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... |
ORPHA:2510 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... |
OMIM:617315 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Retinal detachment, Rieger anomaly, Primary congenital glaucoma, Congenital hypothyroidism, Bupht... |
ORPHA:521445 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Smith-Magenis Syndrome |
|
Retinal detachment, Precocious puberty, Microcornea, Delayed puberty, Hypothyroidism |
ORPHA:819 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalm... |
ORPHA:2505 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Trisomy 12P |
|
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Supernumerary nipple |
ORPHA:1699 |
Pierpont Syndrome |
|
Microcornea, Cryptorchidism, Micropenis, Microphthalmia |
OMIM:602342 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Mic... |
ORPHA:3301 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:77298 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Zellweger Syndrome |
|
Cataract, Hypospadias, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Cryp... |
ORPHA:912 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis,... |
OMIM:244300 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Short Syndrome |
|
Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morpholo... |
ORPHA:3163 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, ... |
ORPHA:494344 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Wolfram Syndrome 1 |
|
Cataract, Diabetes mellitus, Diabetes insipidus, Optic atrophy, Pigmentary retinopathy, Hypothyro... |
OMIM:222300 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Keratitis, Retinal v... |
OMIM:308300 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Occipital encephalocele, Retinal detachment, Optic disc pal... |
OMIM:267750 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Optic atrophy |
OMIM:619833 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... |
ORPHA:335 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:158900 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:284160 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Stickler Syndrome, Type I |
|
Retinal detachment, Cataract, Vitreoretinopathy, Membranous vitreous appearance, Retinal hole |
OMIM:108300 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Supernumerary n... |
ORPHA:464 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy |
OMIM:617255 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Spondyloocular Syndrome |
|
Retinal detachment, Posterior subcapsular cataract, Cataract, Unilateral cryptorchidism |
OMIM:605822 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis |
OMIM:610756 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Sialidosis Type 2 |
|
Umbilical hernia, Corneal opacity, Abnormal macular morphology |
ORPHA:87876 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... |
ORPHA:90354 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Harel-Yoon Syndrome |
|
Optic atrophy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Short Syndrome |
|
Rieger anomaly, Cataract, Insulin-resistant diabetes mellitus, Ovarian cyst, Astigmatism, Megaloc... |
OMIM:269880 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Micropenis |
OMIM:607143 |
Kniest Dysplasia |
|
Retinal detachment, Umbilical hernia, Cataract |
OMIM:156550 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Choroideremia, Aplasia/Hypoplasia aff... |
ORPHA:2719 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Coloboma, Microphthalmia, Peters anomaly |
OMIM:618652 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2328 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Cryptorchidism, Astigmatism |
ORPHA:2953 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract |
ORPHA:93267 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Hypospadias, Corneal opacity, Cryptorchidism, Posterior pi... |
ORPHA:464311 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Gms Syndrome |
|
Rieger anomaly |
ORPHA:2090 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cataract, Degenerative vitreoretinopathy |
ORPHA:1427 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... |
OMIM:300166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy, Developmental cataract |
OMIM:613155 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, ... |
ORPHA:568 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Congenital... |
ORPHA:2323 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ect... |
OMIM:615877 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Blue irides, Aplasia of the vagina, Hypoplastic iris stroma, Hete... |
OMIM:193500 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193510 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Vitreoretinopathy |
ORPHA:560 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Retinal detachment |
OMIM:182290 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Abnormal vitreous humor mo... |
ORPHA:1571 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment |
ORPHA:375 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma |
OMIM:243310 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Pseudoexfoliation, Pigment de... |
OMIM:177650 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Spina bifida, Precocious puberty, Chorioretinal lacunae, Optic disc... |
OMIM:304050 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Optic atrophy |
OMIM:274270 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis |
OMIM:614230 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Rod-cone dystr... |
OMIM:223370 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea, Primary hypothyroidism |
OMIM:249310 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Umbilical hernia, ... |
OMIM:601499 |
Fanconi Anemia |
|
Abnormality of the hypothalamus-pituitary axis, Cataract, Hypospadias, Spina bifida, Abnormal pre... |
ORPHA:84 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Displacement of the urethral meatus, Hypothyroidism, Leukocoria |
ORPHA:1556 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... |
OMIM:169550 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... |
OMIM:309801 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormally prominent line of Schwalbe |
OMIM:109120 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... |
OMIM:214110 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Corneal opacity, Iris coloboma |
ORPHA:1647 |
Stiff Skin Syndrome |
|
Retinal detachment, Type II diabetes mellitus |
ORPHA:2833 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... |
OMIM:206900 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... |
ORPHA:2526 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Cataract |
OMIM:214150 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Cherry red spot of the macula, Optic atrophy,... |
ORPHA:93400 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Astigmatism, Micropenis |
OMIM:301056 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Retinal detachment, Cataract, Hypospadias, Decreased response t... |
ORPHA:268261 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Cockayne Syndrome B |
|
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Pigme... |
OMIM:133540 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Vitreoretinopathy, Lens luxation |
OMIM:154780 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia |
ORPHA:1234 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Hypopigmentation of t... |
OMIM:611584 |
Lowry-Maclean Syndrome |
|
Hypospadias, Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Megalocornea |
ORPHA:2409 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... |
ORPHA:50 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:61 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Abnorma... |
ORPHA:3412 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... |
ORPHA:2556 |
3Mc Syndrome 3 |
|
Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Umbilical hern... |
OMIM:614170 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Sialidosis Type 1 |
|
Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity |
ORPHA:812 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Spina bifida, Cryptorchidism, Abnormality of the uterus, Ab... |
ORPHA:99776 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy |
ORPHA:394 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Spina bifida, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Mi... |
ORPHA:2092 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment |
OMIM:609616 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Cryptorchidism, Microcornea, Astigmatism, Umbilical hernia, Abnormal anterior... |
OMIM:601776 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Optic atrophy |
ORPHA:1528 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Coloboma, Cataract, Optic atrophy |
OMIM:612379 |
Cystinosis |
|
Corneal opacity, Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Type I diabetes... |
ORPHA:213 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:228390 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Posterior embryotoxon, Supernumerary nipple, Cryptorchidism, Hypoplasia of the iris, Anterior pol... |
OMIM:619194 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Marfan Syndrome |
|
Retinal detachment, Flat cornea, Lens luxation, Ectopia lentis, Meningocele, Increased axial leng... |
ORPHA:558 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Vitreoretinopathy |
OMIM:618458 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Cherry red spot of the macula, Optic atrophy, Umbilical hernia |
ORPHA:93399 |
Frontonasal Dysplasia 1 |
|
Cataract, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphthalmia |
OMIM:136760 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo... |
ORPHA:1791 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Microcornea, Umbilical hernia, Retinal detachment |
ORPHA:1900 |
Joubert Syndrome 37 |
|
Microphthalmia, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:619185 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Umbilical hernia |
ORPHA:3218 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Alg12-Cdg |
|
Retinal detachment, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Mi... |
ORPHA:79324 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Corneal dystrophy, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Hypoplas... |
ORPHA:495875 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Ambiguous genitalia, Microphthalmia |
OMIM:613885 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... |
OMIM:147791 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Spina bifida, Cryptorchidism, Anencephaly, Microco... |
ORPHA:3380 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Retinal ... |
OMIM:243605 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:585 |
Hydrolethalus |
|
Anophthalmia, Cryptorchidism, Anencephaly, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:2189 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Unilateral microphthalmos, Hypospadias, Iris coloboma |
OMIM:618874 |
Fryns Syndrome |
|
Hypospadias, Corneal opacity, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma, Retinal dysplasia |
OMIM:615665 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, Hyperaut... |
OMIM:209900 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Spina bifida, Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous... |
ORPHA:2839 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism, Chorioretinal coloboma |
OMIM:619135 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Dela... |
ORPHA:193 |
Insulin-Like Growth Factor I, Resistance To |
|
Increased circulating insulin-like growth factor 1 concentration, Rieger anomaly, Diabetes mellitus |
OMIM:270450 |
Mosaic Trisomy 8 |
|
Cryptorchidism, Corneal opacity, Decreased testicular size |
ORPHA:96061 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Coloboma, Corneal opacity |
OMIM:163200 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Refsum Disease |
|
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... |
OMIM:603457 |
Gm1 Gangliosidosis |
|
Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,... |
ORPHA:354 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... |
OMIM:212720 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... |
OMIM:157640 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Congenital hypothyroidism, Increas... |
OMIM:606519 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... |
ORPHA:744 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... |
OMIM:154700 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris |
ORPHA:169090 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Frontorhiny |
|
Encephalocele, Cataract, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypopitui... |
ORPHA:391474 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... |
ORPHA:93325 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Retinal vascular m... |
ORPHA:42775 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Umbilical hernia, Abnormal fundus fluorescein angiography |
ORPHA:2962 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... |
OMIM:617101 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Umb... |
OMIM:613884 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Opt... |
ORPHA:141099 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Cervical myelopathy, Vitreoretinopathy |
OMIM:183900 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Retinal detachment, Keratoconus |
OMIM:225400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... |
OMIM:609053 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Ocular anterior segment dysgenesis, Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration |
OMIM:272200 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract, Iris coloboma |
ORPHA:250989 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Optic nerve hypoplasia, Vaginal atresia |
OMIM:617914 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... |
ORPHA:636 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic atrophy, Microcornea, Opac... |
OMIM:201000 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis |
ORPHA:1764 |
Seckel Syndrome 10 |
|
Retinal detachment, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy |
OMIM:616538 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia |
OMIM:601675 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the ovary, Micropenis, De... |
OMIM:619321 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia |
OMIM:127000 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Hallermann-Streiff Syndrome |
|
Cataract, Spina bifida, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalm... |
OMIM:234100 |
2Q31.1 Microdeletion Syndrome |
|
Cryptorchidism, Optic disc coloboma, Coloboma, Microphthalmia, Abnormality of the hypothalamus-pi... |
ORPHA:251014 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Corneal opacity, Cryptorchidism, A... |
ORPHA:464306 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, P... |
OMIM:214100 |
Farber Disease |
|
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... |
ORPHA:333 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation test, Cryptorc... |
ORPHA:488632 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Um... |
OMIM:612582 |
Williams Syndrome |
|
Hypoplasia of penis, Flat cornea, Hypogonadotropic hypogonadism, Cataract, Corneal opacity, Poste... |
ORPHA:904 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Posterior subc... |
ORPHA:536471 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism, Small scrotum |
ORPHA:2728 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, A... |
ORPHA:861 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Anophthalmia, Cyclopia, Diabetes insipidus, Diabetes mellitus... |
ORPHA:2162 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... |
OMIM:268400 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism |
OMIM:252600 |
Hurler Syndrome |
|
Umbilical hernia, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Corneal opacity |
ORPHA:570 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Optic nerve dysplasia, Anencephaly, Retinal dysplasia, Opacification of ... |
OMIM:615287 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Cataract, Umbilical hernia, Microphthalmia, Retinopathy |
ORPHA:77301 |
Cysticercosis |
|
Retinal detachment, Iridocyclitis, Chorioretinitis, Abnormal optic chiasm morphology |
ORPHA:1560 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Myelomeningocele, Bila... |
OMIM:219000 |
Cockayne Syndrome |
|
Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Cryptorchidi... |
ORPHA:191 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
Stickler Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Uveitis, Astigm... |
ORPHA:828 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment |
ORPHA:94068 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Wilson Disease |
|
Kayser-Fleischer ring, Abnormality of the menstrual cycle |
ORPHA:905 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism |
ORPHA:1052 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, M... |
OMIM:264480 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Hypermyelinated ... |
OMIM:601812 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Marden-Walker Syndrome |
|
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias |
OMIM:248700 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Optic atrophy, Hypogonadism, Op... |
ORPHA:910 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Fucosidosis |
|
Hypothyroidism, Corneal opacity |
ORPHA:349 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Umbilical hernia, Lens coloboma |
OMIM:618914 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pi... |
OMIM:614866 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal... |
ORPHA:534 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Peters Plus Syndrome |
|
Cataract, Hypospadias, Corneal opacity, Cryptorchidism, Optic atrophy, Congenital hypothyroidism,... |
ORPHA:709 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea, Thyroid C cell hyperplasia |
OMIM:300952 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degenerati... |
ORPHA:33364 |
Hurler-Scheie Syndrome |
|
Umbilical hernia, Corneal opacity |
OMIM:607015 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Spondyloepiphyseal Dysplasia Tarda |
|
Retinal detachment |
ORPHA:93284 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Cataract, Spina bifida, Ovarian carcinoma, Microphthalmia, Iris coloboma |
OMIM:109400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Peters anomaly, Buphthalmos, Persistent pupillary membrane, Microphthalmia |
OMIM:613150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Coloboma, Conjunctival hyperemia |
OMIM:167730 |
Joubert Syndrome 2 |
|
Encephalocele, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Hypoplastic male e... |
OMIM:608091 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy |
ORPHA:85410 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... |
OMIM:263650 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Hypospadias |
ORPHA:65286 |
Leopard Syndrome 1 |
|
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... |
OMIM:151100 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Zygomycosis |
|
Retinal arterial occlusion, Retinal detachment, Chemosis, Diabetes mellitus |
ORPHA:73263 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Astigmatism, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:242900 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Ectopia pupillae, Aplasia of the... |
OMIM:194190 |
Larsen Syndrome |
|
Cryptorchidism, Spina bifida occulta, Corneal opacity |
OMIM:150250 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal opacity, Corneal erosion, Umbilical hernia, Ambiguous genitalia, Abn... |
ORPHA:920 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Retinal dystrophy, Adrenal hypopl... |
OMIM:607932 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Opacification of the corneal stroma |
OMIM:601853 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Encephalocele, Hypospadias, Cryptorchidism, Penoscrotal transposition, Anencephaly... |
OMIM:619148 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Cranial hyperostosis, Imbalanced hemoglobin sy... |
ORPHA:330015 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Spina bifida occulta, Iris col... |
OMIM:607323 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Hydranencephaly, Microphthalmia |
OMIM:260660 |
Mucopolysaccharidosis Type 1 |
|
Retinopathy, Optic atrophy, Corneal opacity |
ORPHA:579 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous ge... |
ORPHA:2166 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Abnormality of thyroid physiology |
ORPHA:1830 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Mucopolysaccharidosis Type 7 |
|
Umbilical hernia, Corneal opacity |
ORPHA:584 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Uveitis, Developmental cataract, Microphthalmia, Hypothyroidism |
ORPHA:2108 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... |
ORPHA:581 |
Joubert Syndrome 14 |
|
Encephalocele, Morning glory anomaly, Meningocele, Optic atrophy, Coloboma, Microphthalmia |
OMIM:614424 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced b... |
OMIM:617052 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism |
OMIM:227650 |
Mend Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract |
ORPHA:401973 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... |
ORPHA:464738 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Cockayne Syndrome A |
|
Cataract, Retinal atrophy, Cryptorchidism, Retinal pigment epithelial mottling, Irregular menstru... |
OMIM:216400 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Mosaic Trisomy 1 |
|
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma |
ORPHA:1692 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Sclerocornea, Cryptorchidism, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma |
ORPHA:280 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Coloboma, Micropht... |
OMIM:147250 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Occipital encephalocele, Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Microphthalmia, Adrenal gl... |
OMIM:273395 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia |
OMIM:603194 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Astigmatism, Sclerocornea |
ORPHA:2095 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbi... |
OMIM:229850 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... |
ORPHA:857 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Encephalocele |
OMIM:613451 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed puberty, Opti... |
ORPHA:138 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Optic atrophy, Coloboma, Peters anomaly, Microphthalmia, Annular pan... |
OMIM:616975 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:600901 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Aplasia of the thymus, Optic disc coloboma, Congenital hypothyroid... |
OMIM:620186 |
Roberts Syndrome |
|
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy |
ORPHA:3103 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microcornea,... |
ORPHA:90324 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Optic atrophy, Ambiguou... |
ORPHA:818 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia |
OMIM:611134 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Corneal opacity, Azoospermia, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test |
OMIM:603467 |
Lathosterolosis |
|
Hypoplasia of penis, Cataract, Meningocele, Microcornea, Opacification of the corneal stroma |
ORPHA:46059 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:616734 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Spina bifida, Coloboma, Abnormal optic disc morphology, Reti... |
ORPHA:508498 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, Long penis, Fronta... |
OMIM:268300 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy, Delayed... |
ORPHA:324 |
Hurler Syndrome |
|
Retinopathy, Corneal opacity |
ORPHA:93473 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Neu-Laxova Syndrome 1 |
|
Cataract, Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Small pla... |
OMIM:256520 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Cataract |
ORPHA:974 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Cataract, Corneal opacity, Astigmatism, Umbilical hernia |
ORPHA:309282 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Spina bifida, Retinal arteriolar tort... |
ORPHA:567 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, H... |
OMIM:603671 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Large p... |
OMIM:249000 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract, Hypothyroidism |
OMIM:620005 |
Monosomy 18P |
|
Microphthalmia, Hypothyroidism |
ORPHA:1598 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Cryptorchidism, Stillbirth, Ambiguous genitalia, Microphthalmia |
OMIM:616300 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... |
OMIM:214800 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Corneal opacity |
OMIM:253220 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:580 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... |
OMIM:235730 |
Encephalocraniocutaneous Lipomatosis |
|
Retinopathy, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:601186 |
Oculoectodermal Syndrome |
|
Supernumerary nipple, Chorioretinal atrophy, Pineal cyst, Microcornea, Astigmatism, Opacification... |
OMIM:600268 |
Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217085 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Spina bifida, Pancreatic cysts, Aplasia of the uterus |
OMIM:274000 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227645 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217093 |
Curry-Jones Syndrome |
|
Microphthalmia, Occipital meningocele, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Cranium bifidum occultum, Microphthalmia, Iris coloboma |
OMIM:229400 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Phimosis, Coloboma, Microphthalmia, Decreased testicular size |
OMIM:309500 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Occipital encephalocele, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Chime Syndrome |
|
Corneal opacity, Retinal coloboma |
ORPHA:3474 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... |
OMIM:309000 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma |
ORPHA:1587 |
Alg9-Cdg |
|
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Branchiooculofacial Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Cryptorchidism, Branchial anomaly, Ret... |
OMIM:113620 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
ORPHA:3455 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat... |
ORPHA:637 |
Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Anencephaly, Short umbilical cord... |
ORPHA:2369 |
Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... |
ORPHA:3472 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Microphthalm... |
OMIM:157170 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Conjunctivitis, Phimosis |
ORPHA:2908 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis |
OMIM:227646 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... |
OMIM:609945 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os... |
OMIM:260400 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Cryptorchidism, Mye... |
ORPHA:2052 |
Gaucher Disease |
|
Corneal opacity, Delayed puberty, Cherry red spot of the macula, Retinopathy, Abnormal macular mo... |
ORPHA:355 |
Mucopolysaccharidosis, Type Vi |
|
Umbilical hernia, Cervical myelopathy, Corneal opacity |
OMIM:253200 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract |
OMIM:139210 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia |
ORPHA:1106 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder, Cyclopia, Iris coloboma |
ORPHA:3186 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Lathosterolosis |
|
Cataract, Bilobate gallbladder, Myelomeningocele, Ambiguous genitalia, male, Opacification of the... |
OMIM:607330 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... |
ORPHA:468631 |
Digeorge Syndrome |
|
Parathyroid agenesis, Sclerocornea, Decreased circulating parathyroid hormone level, Parathyroid ... |
OMIM:188400 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Uveitis |
OMIM:164200 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Microphthalmia, Micropenis |
OMIM:617925 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body colobom... |
OMIM:309800 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Corneal opacity |
OMIM:608670 |
Infantile Nephropathic Cystinosis |
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Pigmentary retinopathy, Abnormal cornea morphology, Abnormality of thyroid physiology, Corneal cr... |
ORPHA:411629 |
Apolipoprotein A-I Deficiency |
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Opacification of the corneal stroma |
ORPHA:425 |
Mucopolysaccharidosis, Type Iva |
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Cervical myelopathy, Opacification of the corneal stroma |
OMIM:253000 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Self-injurious behavior, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Congenital Disorder Of Deglycosylation 1 |
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Corneal ulceration, Corneal opacity |
OMIM:615273 |
Cystinosis, Nephropathic |
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Male infertility, Diabetes mellitus, Retinal pigment epithelial mottling, Pigmentary retinopathy,... |
OMIM:219800 |
Mucopolysaccharidosis Type 6 |
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Opacification of the corneal stroma |
ORPHA:583 |
Monosomy 9P |
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Ambiguous genitalia, Cryptorchidism, Microphthalmia, Hypospadias |
ORPHA:261112 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Holoprosencephaly 7 |
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Occipital meningocele, Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Neurocardiofaciodigital Syndrome |
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Optic disc pallor, Cataract, Sclerocornea |
OMIM:619869 |
3P25.3 Microdeletion Syndrome |
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Microphthalmia |
ORPHA:435638 |
Momo Syndrome |
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Abnormality of the thyroid gland, Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Cataract, Hypospadias, Decreased response to growth hormone stimulation test, ... |
OMIM:613406 |
Hutchinson-Gilford Progeria Syndrome |
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Corneal opacity, Female hypogonadism, Decreased serum leptin, Hypoplastic male external genitalia... |
ORPHA:740 |
Heart And Brain Malformation Syndrome |
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Microphthalmia |
OMIM:616920 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hypospadias, Micropenis, Central hypothyroidism, Neural tube defect, Umbilical hern... |
ORPHA:798 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... |
OMIM:301040 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Microphthalmia |
ORPHA:163966 |
Hereditary Acrokeratotic Poikiloderma |
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Keratoconjunctivitis, Opacification of the corneal stroma, Abnormal preputium morphology |
ORPHA:2907 |
Tangier Disease |
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Corneal opacity |
ORPHA:31150 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Pallister-Hall Syndrome |
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Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Ocular Cystinosis |
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Corneal crystals |
ORPHA:411641 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Viss Syndrome |
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Retinal detachment, Umbilical hernia, Hypothyroidism |
OMIM:619472 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Microphthalmia |
OMIM:619053 |
Thymoma |
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Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Fetal Alcohol Syndrome |
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Microphthalmia |
ORPHA:1915 |
Wilson Disease |
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Hypoparathyroidism, Kayser-Fleischer ring |
OMIM:277900 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Abnormal pupi... |
ORPHA:261552 |
Fraser Syndrome 2 |
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Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Cranium bifidum occultum, Microphthalmia, Cataract |
ORPHA:306542 |
Fontaine Progeroid Syndrome |
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Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Neon... |
OMIM:612289 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, ... |
ORPHA:261537 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Hypospadias, Keratitis, Cryptorchidism, Recurrent corneal erosions, Opacification of the corneal ... |
OMIM:308205 |
Microcephaly-Micromelia Syndrome |
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Neonatal death, Microphthalmia |
OMIM:251230 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, ... |
ORPHA:2152 |
Autosomal Dominant Cutis Laxa |
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Corneal opacity, Developmental cataract |
ORPHA:90348 |
Fanconi Anemia, Complementation Group R |
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Microphthalmia |
OMIM:617244 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea |
OMIM:600920 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Microphthalmia, Abn... |
OMIM:236680 |
Treacher Collins Syndrome 1 |
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Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Osteogenesis Imperfecta |
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Umbilical hernia, Corneal opacity |
ORPHA:666 |
Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
Mucolipidosis Ii Alpha/Beta |
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Myelopathy, Umbilical hernia, Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma |
OMIM:601559 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia |
OMIM:617729 |
Degcags Syndrome |
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Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia |
OMIM:619488 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Teebi-Shaltout Syndrome |
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Microphthalmia |
OMIM:272950 |
Holoprosencephaly 1 |
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Cyclopia, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus |
OMIM:236100 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Yunis-Varon Syndrome |
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Absent nipple, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, Hypoplastic nipples, Micropenis |
OMIM:216340 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Ectopic posterior pituitary, Optic nerve hypoplasia, Bilateral microphthalmos, Re... |
ORPHA:508488 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Branchial anomaly, Limbal dermoid, Microphthalmia |
OMIM:164210 |