Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... |
ORPHA:891 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Abnormality... |
OMIM:251270 |
Birdshot Chorioretinopathy |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... |
OMIM:212550 |
Curry-Jones Syndrome |
|
Hypopigmented skin patches, Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Cranios... |
ORPHA:1553 |
Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Lens coloboma, Metaphyseal dysplasia, Spinal stenosis with reduced interpedi... |
OMIM:157151 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... |
OMIM:169550 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Reti... |
ORPHA:1473 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Peters anomaly, Optic disc colobom... |
OMIM:120200 |
Bresek Syndrome |
|
Aganglionic megacolon, Microphthalmia, Intrauterine growth retardation, Hemivertebrae, Neonatal d... |
ORPHA:85284 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Microphthalmia, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreou... |
OMIM:305390 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Abnormal hair morphology, Iris coloboma, Finger sy... |
ORPHA:251014 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Small for gestational age, Abnormal... |
ORPHA:90050 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Short lower limbs, Lower limb undergrowth, Retinal detachment, Cataract, Delayed ossification of ... |
OMIM:127200 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal neovascularizatio... |
OMIM:193220 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Chorioretinal coloboma, Failure to thrive, Optic nerve hypoplasia, Cataract, Cereb... |
ORPHA:163937 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ir... |
ORPHA:959 |
Neovascular Glaucoma |
|
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... |
ORPHA:94058 |
Papillorenal Syndrome |
|
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... |
OMIM:120330 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Abnormality iris morphology, Hypoplas... |
ORPHA:370959 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Vitreoretinopathy, Abnormality of epiphysis morphology, Epiphyseal... |
ORPHA:250984 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Unossified sacrum, Absent ver... |
ORPHA:93296 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal detachment, Hydrocephalus... |
OMIM:615181 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... |
OMIM:609616 |
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Flattened femoral head, Epiphyseal dysplasia, Platyspondyly, Retinal detachment, Hypoplasia of th... |
OMIM:184000 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:615990 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... |
OMIM:133780 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Obesity, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal de... |
OMIM:616188 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Retinal detachment, Corneal op... |
OMIM:613153 |
Microphthalmia, Lenz Type |
|
Chorioretinal coloboma, Microphthalmia, Optic disc coloboma, Kyphosis, Iris coloboma, Finger synd... |
ORPHA:568 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Microphthalmia, Superficial episcleral hyperemia, Exudative retinal detachment, Abn... |
ORPHA:209956 |
Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... |
ORPHA:209943 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Chorioretinal coloboma, Cataract |
OMIM:274205 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... |
OMIM:300476 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Renal Coloboma Syndrome |
|
Joint hyperflexibility, Optic nerve dysplasia, Optic disc coloboma, Retinal coloboma |
ORPHA:1475 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613582 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Abnormality of the optic nerve, Generalized hyperpigmentation, Aplasia/Hypoplasia ... |
ORPHA:33445 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Buphthalmos, Retinal degeneration, Microphthalmia, Retinal dysplasia, Hypoplasia o... |
OMIM:253280 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Exuda... |
ORPHA:2788 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Stickler Syndrome Type 1 |
|
Abnormality of vertebral epiphysis morphology, Abnormality of epiphysis morphology, Platyspondyly... |
ORPHA:90653 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Stickler Syndrome, Type Ii |
|
Long fingers, Arachnodactyly, Joint hypermobility, Retinal detachment, Abnormal vitreous humor mo... |
OMIM:604841 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormality of cranial sutures, Slender finger, Anisospondyly, Increased bone mineral density, Fl... |
ORPHA:163649 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Oculofaciocardiodental Syndrome |
|
Broad palm, 2-3 toe syndactyly, Highly arched eyebrow, Microphthalmia, Ectopia lentis, Hammertoe,... |
ORPHA:2712 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Hip osteoarthritis, Abnormal epiphysis morphology of the phala... |
OMIM:619248 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Short long bone, Coronal cleft vertebrae, Vertebral wedging, L... |
ORPHA:485 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Microphthalmia, Aplasia/Hypoplasia of the lens, Osteopor... |
ORPHA:85194 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... |
OMIM:613310 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Microcornea, Highly arched eyebrow, Cerebral cortical hemiatrophy, Failure to thrive, Osteochondr... |
ORPHA:2995 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Microphthalmia, Retinal dysplasia, Hypopla... |
OMIM:310600 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia, Spina bifida occulta, Scoliosis |
OMIM:231970 |
Aicardi Syndrome |
|
Dandy-Walker malformation, Optic atrophy, Partial agenesis of the corpus callosum, Butterfly vert... |
OMIM:304050 |
Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Butterfly vertebrae, Chorioretinal coloboma, ... |
ORPHA:50 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract, Generalized hyperpigmentation |
ORPHA:2253 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Bicoronal synostosis, Low anterior hairline, Delayed closure of the an... |
OMIM:618736 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Iris coloboma, Sparse and thin eyebrow, Sparse hair, Fine hair, Hypertension, M... |
OMIM:234100 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris, Optic disc coloboma, Cerebellar vermis hypoplasia, Short metacarpal, Brac... |
OMIM:600092 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Optic disc pallor, Chorioretinal coloboma, Occipital myelomeningocele, Ret... |
OMIM:213300 |
Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Polydactyly, Retinopathy |
OMIM:615988 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Joint Laxity, Short Stature, And Myopia |
|
Chorioretinal coloboma, Talipes equinovarus, Kyphoscoliosis, Osteopenia, Iris coloboma, Retinal d... |
OMIM:617662 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Dysplasia of the femoral head, Iris co... |
ORPHA:536471 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract |
OMIM:263100 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Dandy-Walker malformation, Tiger tail banding, Intrauterine growth retardation, Retinal dystrophy... |
OMIM:300953 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Adducted thum... |
OMIM:614643 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula... |
ORPHA:75376 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy |
OMIM:300719 |
Kniest Dysplasia |
|
Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... |
OMIM:156550 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... |
OMIM:614500 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia, Scoliosis, Umbilical hernia |
OMIM:615879 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Retinal coloboma, Abnormality of the optic disc, Iris coloboma, Broad hallux,... |
ORPHA:508498 |
Warsaw Breakage Syndrome |
|
2-3 toe syndactyly, Intrauterine growth retardation, Optic disc coloboma, Clinodactyly, Microceph... |
OMIM:613398 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly |
OMIM:615983 |
Joubert Syndrome 2 |
|
Microphthalmia, Chorioretinal coloboma, Agenesis of cerebellar vermis, Failure to thrive, Retinal... |
OMIM:608091 |
Joubert Syndrome With Hepatic Defect |
|
Highly arched eyebrow, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma, Tremor, Aplasi... |
ORPHA:1454 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia,... |
ORPHA:496790 |
Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Retinal detachment, ... |
ORPHA:3437 |
Cardiofaciocutaneous Syndrome 4 |
|
Developmental cataract, Optic nerve hypoplasia, Absent eyebrow, Pulmonic stenosis, Multiple lenti... |
OMIM:615280 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal cortical atrophy, ... |
ORPHA:228384 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dysplasia, Chorior... |
OMIM:152950 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Facial palsy, Shoulder girdle muscle weakness, Retinal telangiectas... |
OMIM:158900 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis, Cerebellar hypoplasia,... |
OMIM:218670 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Hypoplasia of the radius... |
OMIM:609053 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hirsutism, Talipes equinovarus, Global brain atrophy, Cerebellar hypoplasia, Abnormal left ventri... |
OMIM:301056 |
Retinal Venous Beading |
|
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... |
OMIM:180080 |
Microphthalmia, Isolated 8 |
|
Coloboma, Retinal detachment, Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Micr... |
OMIM:610125 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Elbow ankylosis, Intrauterine growth retardation, Retinal dysplasia, Abnormal vertebral morpholog... |
ORPHA:96183 |
Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Failure to thrive in infancy, Intrauterine growth retardation, Optic nerve hy... |
OMIM:618156 |
Bardet-Biedl Syndrome 6 |
|
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity |
OMIM:605231 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly |
OMIM:615771 |
Walker-Warburg Syndrome |
|
Dandy-Walker malformation, Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal... |
ORPHA:899 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Abnormal hair morphology, Hyperpigmented nevi, Optic nerve ... |
OMIM:607597 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, Iris coloboma, Short neck, Scoliosis, Agenesis of corpus callosum |
ORPHA:52055 |
Spondyloocular Syndrome |
|
Long fingers, Osteopenia, Retinal detachment, Vertebral compression fracture, Cataract, Long toe,... |
OMIM:605822 |
Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Obesity, Polydactyly, Rod-cone dystrophy |
OMIM:615987 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Highly arched eyebrow, Low anterior hairline, Optic nerve hypoplasia, Long eyelashes, Primary mic... |
OMIM:618828 |
Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment, Short metacarpal, Cataract, Microcornea |
ORPHA:627 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Optic nerve hypoplasia, Flexion contracture, Hypoplasia of the corpus callosum... |
OMIM:617864 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardati... |
ORPHA:1466 |
Stromme Syndrome |
|
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Stillbirth, Iris coloboma, ... |
OMIM:243605 |
Congenital Tufting Enteropathy |
|
Corneal erosion, Failure to thrive, Weight loss, Arthritis, Punctate keratitis, Optic disc colobo... |
ORPHA:92050 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Global brain atrophy, Aplasia/Hypoplasia of the ... |
ORPHA:2714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic n... |
OMIM:236670 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia, Microcephaly |
OMIM:617914 |
Stickler Syndrome, Type I |
|
Morbus Scheuermann, Membranous vitreous appearance, Beaking of vertebral bodies, Platyspondyly, A... |
OMIM:108300 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Hypoplastic nipples, Sparse hair, Breast hypoplasia, Supernumerary nip... |
OMIM:308300 |
Incontinentia Pigmenti |
|
Abnormal hair morphology, Dystrophic toenail, Cerebral ischemia, Finger syndactyly, Deviation of ... |
ORPHA:464 |
Oculoauricular Syndrome |
|
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Macular hypoplasia, P... |
OMIM:612109 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Donnai-Barrow Syndrome |
|
Retinal dystrophy, Iris coloboma, Retinal detachment, Aplasia/Hypoplasia of the corpus callosum, ... |
ORPHA:2143 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Intrauterine growth retardatio... |
OMIM:616171 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Large for gestational age, Pulmonic stenosis, Aplasia/Hypoplasia of the o... |
ORPHA:137634 |
Smith-Magenis Syndrome |
|
Broad palm, Increased body weight, Abnormality of the forearm, Retinal detachment, Short palm, Sc... |
OMIM:182290 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... |
OMIM:182230 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Optic disc coloboma |
OMIM:241310 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Metaphyseal dysplasia, Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Retinal coloboma, Hypoplasia of the pons, Optic nerve hypoplasia, Abnormally l... |
OMIM:300749 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Hypoplastic nipples, Hirsutism, Phocomelia, Curly eyelashes, Proximal placeme... |
OMIM:122470 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Retinal detachment, Abnormality of femoral epiphysis, Hype... |
ORPHA:3218 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... |
ORPHA:79345 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair |
OMIM:606574 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Hydrocep... |
ORPHA:1528 |
Linear Verrucous Nevus Syndrome |
|
Dandy-Walker malformation, Toe syndactyly, Sparse scalp hair, Genu recurvatum, Reduced bone miner... |
ORPHA:2611 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Uveal Melanoma |
|
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... |
ORPHA:39044 |
Spondyloepiphyseal Dysplasia Congenita |
|
Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone mineral density, Short femur,... |
ORPHA:94068 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Microcephaly |
OMIM:613638 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Microphthalmia, Vertebral fusion, Hemivertebrae, Anophthalmia, Optic nerve h... |
OMIM:206900 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Flexion contracture, Decreased body weight, Agenesis of c... |
OMIM:614833 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Intrauterine growth retardation, Long fingers, Optic nerve hypoplasia, Broad distal ph... |
ORPHA:363686 |
Classic Homocystinuria |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Intracranial hemorrhage, Ectopi... |
ORPHA:394 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Tapered finger, Optic disc hypoplasia, Optic nerve hypoplasia, Delayed skeletal ma... |
ORPHA:401777 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity, Brachydactyly |
OMIM:615995 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Optic disc coloboma, Iris coloboma, Short neck, Thoracolumbar scoliosis, Agenesis of corpus callosum |
OMIM:300472 |
2P15P16.1 Microdeletion Syndrome |
|
Toe clinodactyly, Camptodactyly of finger, Cerebellar hypoplasia, Sparse and thin eyebrow, Supern... |
ORPHA:261349 |
Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Pseudoepiphyses of the... |
OMIM:113100 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Progressive cataract, Duplication involving bones of the feet, Scoliosis,... |
OMIM:246000 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Vasculitis, Arthritis |
ORPHA:375 |
Spondyloepiphyseal Dysplasia Congenita |
|
Talipes equinovarus, Delayed pubic bone ossification, Vitreoretinopathy, Delayed calcaneal ossifi... |
OMIM:183900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... |
OMIM:607143 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Polydactyly, Rod-cone dystrophy, Syndactyly, Obesity, Brachydactyly |
OMIM:615982 |
14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Short 5th metacarpal, Anophthalmia, Finger syndactyly, Short foot, Bilateral sing... |
ORPHA:264200 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity |
OMIM:610156 |
Marshall Syndrome |
|
Irregular proximal tibial epiphyses, Developmental cataract, Radial bowing, Vitreoretinopathy, Ir... |
OMIM:154780 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Brittle Cornea Syndrome |
|
Decreased corneal thickness, Hallux valgus, Corneal erosion, Corneal scarring, Keratoglobus, Incr... |
ORPHA:90354 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior seg... |
OMIM:615145 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum |
ORPHA:250972 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Partial agenesis of the corpus callosum, Retinal neovascularization, Cerebellar vermis hypoplasia... |
OMIM:619074 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Aniridia, Anterior subcapsular cataract... |
OMIM:106210 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... |
OMIM:615986 |
Cerebral Visual Impairment |
|
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Intracranial hemorrhage, Optic nerv... |
ORPHA:447788 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Optic atrophy, Microphthalmia, Retinal dysplasia, Holoprosencephaly, Exag... |
OMIM:253800 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Microphthalmia, Retinal dysplasia, Hydrocephalus, Coloboma, Ocular anteri... |
ORPHA:324416 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... |
ORPHA:166011 |
Sturge-Weber Syndrome |
|
Optic atrophy, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridi... |
ORPHA:3205 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Avascular necrosis of the capital femoral epiphysis, Cardiomyopathy... |
ORPHA:247691 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Optic disc coloboma |
OMIM:270420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Hydrocephalu... |
OMIM:613154 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Failure to thrive, Cerebral atrophy, Coloboma, Agenesis of corpus ... |
OMIM:274270 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Narrow palm, Arachnodactyly, Truncal obesity, Joint hypermobility, Cataract, Pigmentary retinopat... |
OMIM:268050 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Retinal dysplasia, Agenesis of cer... |
OMIM:615665 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Microphthalmia, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone s... |
OMIM:611040 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Optic atrophy, Retinal degeneration, Rhizomelia, Platy... |
OMIM:602271 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Abnormal form of the vertebral bodies, Corticospina... |
ORPHA:819 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Craniosynostosis, Generalized joint laxity, Broad toe, Pulmonary arterial... |
ORPHA:93932 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Cerebellar hypoplasia |
ORPHA:65288 |
Stickler Syndrome, Type V |
|
Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Highly arched eyebrow, Mitral regurgitation, Optic nerve hypoplasia, Prox... |
ORPHA:261250 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Hydrocephalus, Iris coloboma |
ORPHA:2185 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Metatarsus adductus, Hypoplasia of the pons, Kyphoscoliosis, Optic nerve hypoplasia, Calcaneovalg... |
OMIM:612513 |
Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... |
ORPHA:370097 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Tapered finger, Branchial fistula, Optic disc coloboma, Tricuspid regurgitation, ... |
ORPHA:261337 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Partial albinism, Myelomeningocele, Hypoplastic iris stroma, Hypopigmentation of the... |
OMIM:193500 |
Wildervanck Syndrome |
|
Meningocele, Lens subluxation, Facial palsy, Fused cervical vertebrae, Low posterior hairline, Sh... |
ORPHA:3456 |
Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... |
OMIM:609218 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Cerebellar hypoplasia, Cerebral atrophy, Cerebral hypoplasia, Hypoplasia... |
ORPHA:468631 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Short metacarpal, Short thumb, Cataract,... |
ORPHA:2489 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... |
ORPHA:91495 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Retinal degeneration, Polydactyly, Obesity |
OMIM:614845 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Rod-cone dystrophy, Obesity, Clinodactyly |
OMIM:615984 |
Knobloch Syndrome 1 |
|
Developmental cataract, Vitreoretinopathy, Peripapillary atrophy, Alopecia, Phthisis bulbi, Macul... |
OMIM:267750 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Optic disc coloboma |
ORPHA:1790 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... |
OMIM:204200 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Hand tremor, ... |
ORPHA:101085 |
Stiff Skin Syndrome |
|
Hypertension, Retinal detachment, Limitation of joint mobility |
ORPHA:2833 |
Proboscis Lateralis |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic nerve... |
ORPHA:141099 |
Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Hypoplasia of the iris, Retinal dystrophy, Iris coloboma... |
OMIM:222448 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Small for gestational age, Optic disc coloboma |
ORPHA:2260 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... |
ORPHA:2786 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
19P13.13 Microdeletion Syndrome |
|
Hypoplasia of the frontal lobes, Optic atrophy, Long fingers, Optic nerve hypoplasia, Long eyelas... |
ORPHA:357001 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, S... |
OMIM:616394 |
Marshall Syndrome |
|
Sparse eyelashes, Sparse hair, Ectopia lentis, Vitreoretinopathy, Genu valgum, Retinal detachment... |
ORPHA:560 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal autonomic nervous system physiology, Partial agenesis of the corpus callosum, Metatarsus... |
ORPHA:300570 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Developmental cataract, Shallow anterior chamber, Microphthalmia, Hypertrichosis, ... |
OMIM:614222 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Srd5A3-Cdg |
|
Optic atrophy, Hypertrichosis, Abnormal sacrum morphology, Optic disc hypoplasia, Palmoplantar ke... |
ORPHA:324737 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... |
OMIM:617406 |
Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy |
ORPHA:75858 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:615033 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short phalanx of finger, Sho... |
ORPHA:85167 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Hirsutism, Rod-cone dystrophy, Postaxial polydactyly |
OMIM:300804 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Aplasia/Hypoplasia involving... |
ORPHA:3301 |
Pancreatic And Cerebellar Agenesis |
|
Cerebellar agenesis, Failure to thrive, Optic nerve hypoplasia, Overlapping fingers, Cerebellar h... |
OMIM:609069 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Macular hypopigmentation, Rod-cone dystrophy, Large for gestational age, Postaxial f... |
OMIM:617119 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... |
OMIM:619165 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Talipes equinovarus, Arterial rupture, Hip subluxation, Thoracic scoliosis, Distal joint laxity, ... |
ORPHA:1900 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebellar hypoplasia |
ORPHA:2246 |
Proteus-Like Syndrome |
|
Limbal dermoid, Communicating hydrocephalus, Genu recurvatum, Heterochromia iridis, Abnormal pupi... |
ORPHA:2969 |
Knobloch Syndrome |
|
Abnormal hair morphology, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detach... |
ORPHA:1571 |
Orofaciodigital Syndrome Xiv |
|
Dandy-Walker malformation, Retinitis, Retinal coloboma, Postaxial polydactyly, Holoprosencephaly,... |
OMIM:615948 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Hypertension, Telangiectasia, Bowing of the legs, Retinal detachment, Leukocoria |
OMIM:219250 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microphthalmia, Hypertrichosis, Failure to thrive, Kyphosc... |
OMIM:600118 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hypertrichosis, Cone-shaped epiphysis, Optic nerve hypoplasia, Clinodactyly of the 3rd finger, Hy... |
ORPHA:221139 |
Phace Association |
|
Dandy-Walker malformation, Optic atrophy, Developmental cataract, Microphthalmia, Horner syndrome... |
OMIM:606519 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Retinal fold, Shallow anterior chamber, Persistent pupillary ... |
OMIM:221900 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Polydactyly, Rod-cone dystrophy |
OMIM:615996 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Olivopontocerebellar hypoplasia, Postaxial polydactyly, Optic nerve hypoplasia, Joint hypermobili... |
ORPHA:457284 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Iris coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Hydrocephalus, Cataract, Obesity |
OMIM:601794 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Optic disc pallor, Intrauterine growth retardation, Small for gestatio... |
ORPHA:464311 |
Marfan Syndrome |
|
Lens subluxation, Slender build, Protrusio acetabuli, Limited elbow movement, Meningocele, Arthra... |
ORPHA:558 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Rod-cone dystrophy, Iliac crest serration, Tho... |
ORPHA:168549 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Polydactyly, Small for gestational age, Stillbirth, Syndacty... |
ORPHA:294975 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop... |
OMIM:136300 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Toe syndactyly, Intrauterine growth retardation, Abnormality of the upper limb... |
ORPHA:1556 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Microphthalmia, Small for gestational age, Abnormality iris morphology, Hand clen... |
ORPHA:1617 |
Joubert Syndrome 16 |
|
Coloboma, Retinal dystrophy, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Optic atrophy, Intrauterine growth retardation, Retinal dysplasia, Aplasi... |
ORPHA:272 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea, Albinism |
OMIM:615312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Microphthalmia, Abnormally large globe, Hypoplasia of the brainstem, Progre... |
OMIM:615249 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Talipes equinovarus, Iris coloboma, Broad hallux, Remnants of the hyaloid vas... |
OMIM:300166 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Macular atrophy, Microcornea |
OMIM:602499 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Polydactyly, Bone spicule pigmentation of the retina, Rod-... |
OMIM:615994 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... |
OMIM:601706 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion... |
ORPHA:313892 |
Senior-Loken Syndrome |
|
Hypertension, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone min... |
ORPHA:3156 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Biconcave vertebral bodies, Cerebral atrophy, Macular atrophy, Optic disc pallor, Retinal degener... |
OMIM:619260 |
Albinism, Oculocutaneous, Type Vi |
|
Abnormal hair morphology, Hypoplasia of the fovea, Generalized hypopigmentation |
OMIM:113750 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Tapered finger, Long fingers, Rieger anomaly, Retinal detachment, Abnormality of the... |
ORPHA:521445 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Holoprosencephaly 13, X-Linked |
|
Butterfly vertebrae, Septo-optic dysplasia, Optic nerve hypoplasia, Vertebral clefting, Thoracic ... |
OMIM:301043 |
Phace Syndrome |
|
Dandy-Walker malformation, Lens coloboma, Microphthalmia, Retinal vascular malformation, Scleroco... |
ORPHA:42775 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... |
OMIM:609913 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin |
OMIM:606952 |
20P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Failure to thrive in infancy, Small nail, Polydactyly, Finger syndactyly, ... |
ORPHA:313781 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Cataract, Obesity |
ORPHA:363741 |
Leber Congenital Amaurosis 2 |
|
Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus |
OMIM:204100 |
Wildervanck Syndrome |
|
Pseudopapilledema, Fused cervical vertebrae |
OMIM:314600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormality of the optic nerve, Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, O... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormality of the optic nerve, Metopic synostosis, Talipes equinovarus, Postaxial polydactyly, O... |
ORPHA:352665 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Talipes equinovarus, Palmoplantar cutis laxa, Kyphoscoliosis, O... |
OMIM:225400 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split hand, Cataract, Retinopathy, Split foot |
OMIM:183800 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Sparse eyelashes, Talipes equinovarus, Hand clenching, Failure to thrive, Sparse e... |
OMIM:617988 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Developmental cataract, Telangiectasia, Hypoplasia of the fovea, Cherry red spot o... |
ORPHA:93400 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Hypertension, Highly arched eyebrow, Microphthalmia, Morning glory ano... |
OMIM:614424 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Short toe, Kyphosis, Cataract, Hyperlordosis, Delayed skelet... |
ORPHA:3085 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Tapered finger, Kyphoscoliosis, Craniosynostosis, Generalized joint lax... |
ORPHA:2953 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Intrauterine growth retardation, Retinal dystrophy, Optic nerve hypoplasia, Alopec... |
OMIM:619321 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Delayed skeletal maturation, Low posterior hairline, Sparse hair, Highly arched eyebrow, Mitral r... |
OMIM:617506 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cer... |
ORPHA:65 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Decreased sensory ne... |
OMIM:609033 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Tricuspid regurgitation, Rod-cone dystrophy, Pigmentary retinopathy, Obesi... |
OMIM:600151 |
Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmia, Proximal p... |
ORPHA:139471 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Highly arched eyebrow, Small for gestational age, Postaxial polydactyly, Tapered finger, Macular ... |
OMIM:613792 |
Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... |
OMIM:126070 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... |
ORPHA:1390 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Hydrocephalus, Camptodactyly of finger, Camptodactyly, Delayed skeletal m... |
OMIM:607872 |
Alg12-Cdg |
|
Small nail, Intrauterine growth retardation, Talipes equinovarus, Short long bone, Long fingers, ... |
ORPHA:79324 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Generalized joint laxity, Joint dislo... |
OMIM:601776 |
Stickler Syndrome |
|
Abnormal form of the vertebral bodies, Slender build, Reduced bone mineral density, Protrusio ace... |
ORPHA:828 |
Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Limited elbow extension, Camptodactyly, Premature osteoarth... |
OMIM:154700 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Retinal capillar... |
ORPHA:892 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Chorioretinal coloboma, Ulnar deviation of finger, Iris coloboma, Short toe, Colo... |
ORPHA:921 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... |
ORPHA:231736 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Retinal coloboma, Joint contracture of the hand,... |
OMIM:244300 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplastic iris strom... |
ORPHA:233 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
Aland Island Eye Disease |
|
Astigmatism, Hypoplasia of the fovea, Albinism |
OMIM:300600 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Obesity, Age... |
ORPHA:3157 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Keratoconjunctivitis sicca, Dandy-Walker malformation, Buphthalmos, Broad eyebrow, Hirsutism, Low... |
ORPHA:495875 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... |
OMIM:607323 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... |
OMIM:604393 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Cataract, Coxa valga, Short phalanx of finger, ... |
OMIM:132450 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Osteochondrosis, Iris coloboma, Aortic valve stenosis, Intrauterine growth retarda... |
ORPHA:268261 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Remnants of the hyaloid vascular system, Abnormal chorioret... |
ORPHA:649 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration, Polydactyly, Short long bone, Scoliosis, Brachydactyly |
OMIM:613819 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... |
OMIM:203200 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Microphthalmi... |
ORPHA:2526 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis, Vitritis, Ir... |
OMIM:107320 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentation of the retina, Retinopathy, ... |
OMIM:180210 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Cataract, Sensory axonal neuropathy |
ORPHA:329314 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardati... |
ORPHA:2510 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Retinitis Pigmentosa 2 |
|
Chorioretinal degeneration, Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312600 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Retinal dystrophy, Rod-cone dystrophy, Macular degen... |
OMIM:616629 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Failure to thrive, Retinal dystrophy, Corpus callosum atrophy, Cataract |
OMIM:614877 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Iris transillumination defect... |
ORPHA:352731 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Short 5th metacarpal, Juvenile cataract, Uncombable hair, Sp... |
ORPHA:1264 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Aplasia/Hypoplasia of the corpus callosum, Catara... |
ORPHA:3173 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Punctate ... |
ORPHA:1914 |
Spondylocarpotarsal Synostosis Syndrome |
|
Capitate-hamate fusion, Talipes equinovarus, C2-C3 subluxation, Epiphyseal dysplasia, Limited elb... |
OMIM:272460 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Retinal detachment |
OMIM:223330 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Macular dystrophy, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:225 |
Distal Monosomy 13Q |
|
Optic atrophy, Anencephaly, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Abnormal form of ... |
ORPHA:1590 |
Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Iris coloboma, Syndactyly, Camptodactyly, Abnormal palmar dermatog... |
OMIM:309800 |
Pelvis-Shoulder Dysplasia |
|
Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Abnormal form of the vertebra... |
ORPHA:2839 |
Lissencephaly 5 |
|
Optic atrophy, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Hypoplasia of the ... |
OMIM:615191 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Polydactyly, Rod-cone dystrophy |
OMIM:615985 |
Ã…land Islands Eye Disease |
|
Astigmatism, Hypopigmentation of the fundus, Hypoplasia of the fovea |
ORPHA:178333 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, B... |
ORPHA:585 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormal eyebrow morphology, White ey... |
ORPHA:897 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Aganglionic megacolon, Retinal degeneration, Hirsutism, Postaxial polydactyly, Reti... |
OMIM:209900 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Abno... |
ORPHA:363417 |
Hydranencephaly |
|
Stiff neck, Opisthotonus, Antenatal intracerebral hemorrhage, Intrauterine growth retardation, Op... |
ORPHA:2177 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Talipes equinovarus, Cataract, Progressive flexion contractures, Hypoplasia of the... |
OMIM:617481 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Jacobsen Syndrome |
|
Microcornea, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Intrauterine growth retardati... |
OMIM:147791 |
Trisomy 13 |
|
Optic atrophy, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia ... |
ORPHA:3378 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Polydactyly, Retinopathy |
OMIM:614464 |
Lissencephaly 8 |
|
Optic atrophy, Talipes equinovarus, Hypoplasia of the brainstem, Cataract, Hypoplasia of the corp... |
OMIM:617255 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Retinal coloboma, Global brain atrophy, Gastrointestinal hemorrhage, Thoracic sco... |
ORPHA:508488 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Conjunctival hyperemia, Hypopyon, Tractional retinal detachment, Corneal kerat... |
ORPHA:209959 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Proteus Syndrome |
|
Hallux valgus, Buphthalmos, Retinal nonattachment, Sirenomelia, Generalized hyperpigmentation, Ab... |
ORPHA:744 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Decreased cervical spine mobi... |
ORPHA:226307 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormality of secondary sexual hair, Polydactyly, Septo-optic dysplasia, Decreased cervical spin... |
ORPHA:95494 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypopigmented skin patches, Optic atrophy, Abnormality of retinal pigmentation, Sandal gap, Abnor... |
ORPHA:2715 |
Zika Virus Disease |
|
Macular atrophy, Wrist swelling, Intrauterine growth retardation, Lens subluxation, Ankle swellin... |
ORPHA:448237 |
Suleiman-El-Hattab Syndrome |
|
Highly arched eyebrow, Optic disc pallor, Hirsutism, Polydactyly, Failure to thrive, Synophrys, M... |
OMIM:618950 |
Cohen Syndrome |
|
Cubitus valgus, Iris coloboma, Finger syndactyly, Abnormal eyelash morphology, Abnormality of ret... |
ORPHA:193 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, Syndactyly, Retinopathy, Abnormal retinal morphology |
OMIM:614970 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Polydactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Finger ... |
ORPHA:59315 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Rod-cone dystrophy, Obesity, Short long bone, Brachydactyly |
OMIM:615633 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardation, Aplasia/Hyp... |
ORPHA:290 |
Marinesco-Sjögren Syndrome |
|
Optic atrophy, Metatarsus valgus, Avascular necrosis of the capital femoral epiphysis, Abnormalit... |
ORPHA:559 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Tapered finger, Abnormality of skin pigmentation, Failure to thrive, Pulmonary ar... |
ORPHA:65286 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis, Microcephaly |
ORPHA:530983 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Delayed skeletal maturation, Broad palm, Small epiphyses, Optic disc pallor, Metaphyseal cupping ... |
OMIM:300232 |
Infantile Refsum Disease |
|
Optic atrophy, Abnormality of epiphysis morphology, Failure to thrive, Facial palsy, Cardiomyopat... |
ORPHA:772 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Bowing of the long bones, Osteo... |
ORPHA:2801 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Bilateral single transverse palmar ... |
ORPHA:44 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608553 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy, Postaxial foot polydactyly, Pos... |
OMIM:615981 |
Developmental And Epileptic Encephalopathy 83 |
|
Highly arched eyebrow, Hypoplasia of the fovea, Genu valgum, Microcephaly, High anterior hairline... |
OMIM:618744 |
Cysticercosis |
|
Abnormality of the vertebral column, Stiff neck, Chorioretinitis, Abnormality of optic chiasm mor... |
ORPHA:1560 |
Camptosynpolydactyly, Complex |
|
Small nail, Polydactyly, Syndactyly, Nail dysplasia, Camptodactyly, Cutaneous syndactyly, Toenail... |
OMIM:607539 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Retinal dysplasia, Hypoplasi... |
OMIM:615287 |
Gorlin Syndrome |
|
Vertebral fusion, Hemivertebrae, Vertebral wedging, Palmar pits, Arachnodactyly, Iris coloboma, M... |
ORPHA:377 |
Craniosynostosis 4 |
|
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Pansynostosis |
OMIM:600775 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Communicating hydrocephalus, Iris coloboma |
OMIM:615219 |
Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Clinodactyly, Short 5th finger, Hip dislocation, Cerebral atroph... |
OMIM:615583 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Retinal coloboma, Horizontal eyebrow, Inferior vermis hypoplasia, Cataract, Astig... |
OMIM:618571 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Smal... |
OMIM:610756 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly, Hydrocephalus, Coloboma, Obesity |
ORPHA:141333 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cerebellar hemisphere hypoplasia, Global brain atrophy, Transient ischemic attack, Hyperextensibi... |
ORPHA:500150 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Seckel Syndrome 10 |
|
Hypertension, Cone-shaped epiphysis, Metaphyseal widening, Retinal detachment, Slender long bone,... |
OMIM:617253 |
Vici Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypoplasia of the pons, Cerebral cortical atr... |
ORPHA:1493 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Retinal dystrophy, Hypoplasia of the brainstem, Postaxial hand polydactyly... |
OMIM:611560 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Pigmentary retinopathy, Metatarsus adductus, Intrauterine growth retardation, Talipes equinovarus... |
OMIM:614866 |
Flynn-Aird Syndrome |
|
Cachexia, Alopecia, Rod-cone dystrophy, Kyphosis, Cataract, Joint stiffness, Scoliosis, Cerebral ... |
ORPHA:2047 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Intrauterine growth retardation, Postaxial polydactyly, Corneal scarring, Failure to... |
OMIM:618460 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Optic atrophy, Toe syndactyly, Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, ... |
ORPHA:60040 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Pigmentary retinopathy, Metatarsus adductus, Intrauterine growth retardation, Talipes equinovarus... |
OMIM:214110 |
Retinitis Pigmentosa 89 |
|
Retinal thinning, Postaxial polydactyly, Rod-cone dystrophy, Hyperautofluorescent retinal lesion |
OMIM:618955 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Optic atrophy, Limb joint contracture, Hirsutism, Low anterior hairline, Tapered finger, Overlapp... |
OMIM:300004 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:251505 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Axonal degeneration, Truncal tit... |
ORPHA:88628 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Short finger, Juvenile cataract, Rod-cone dystrophy, Uncombable hair, Short proximal phalanx of f... |
OMIM:191482 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to t... |
OMIM:214150 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Developmental cataract, Microphthalmia, Low anterior hairline, Global brain atroph... |
OMIM:614225 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Microphthalmia, Hammertoe, Abnormality of epiphysis morpholo... |
ORPHA:773 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Cataract |
OMIM:270800 |
Hypomelanosis Of Ito |
|
Alopecia, Clinodactyly, Kyphosis, Iris coloboma, Hand polydactyly, Radial deviation of finger, Sy... |
OMIM:300337 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal sacrum morpholog... |
ORPHA:2345 |
Refsum Disease, Classic |
|
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Cataract, Sho... |
OMIM:266500 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, Generalized hypopigmentation,... |
ORPHA:55 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Retinal dystrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal e... |
ORPHA:1021 |
Retinitis Pigmentosa 86 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
Leber Congenital Amaurosis 8 |
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Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Holoprosencephaly 9 |
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Partial agenesis of the corpus callosum, Microphthalmia, Anophthalmia, Holoprosencephaly, Optic n... |
OMIM:610829 |
Retinitis Pigmentosa 46 |
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Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, At... |
OMIM:612572 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Microphthalmia, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma, Clinodactyly,... |
OMIM:610023 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Microphthalmia, Intrauterine growth retardation, Osteoporosis, Motor axonal neuropathy, Long eyel... |
ORPHA:48431 |
Pontocerebellar Hypoplasia, Type 16 |
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Optic atrophy, Hypoplasia of the pons, Cataract, Cerebellar hypoplasia, Scoliosis, Cerebral corti... |
OMIM:619527 |
Brachydactyly, Type B1 |
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Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... |
OMIM:113000 |
Joubert Syndrome With Ocular Defect |
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Highly arched eyebrow, Aganglionic megacolon, Abnormal vertebral morphology, Retinal coloboma, Re... |
ORPHA:220493 |
Coach Syndrome 2 |
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Hypertension, Chorioretinal coloboma, Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Agen... |
OMIM:619111 |
Hermansky-Pudlak Syndrome 6 |
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Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Absent foveal reflex |
OMIM:614075 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Intrauterine growth retardation, Abnormal eye... |
ORPHA:2518 |
Familial Benign Copper Deficiency |
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Early balding, Aplasia/Hypoplasia of the fovea, Diaphyseal thickening |
ORPHA:1551 |
Anterior Segment Dysgenesis 8 |
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Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Triphalangeal Thumb, Nonopposable |
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Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Nevus Comedonicus Syndrome |
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Toe syndactyly, Abnormal hair morphology, Abnormal vertebral morphology, Finger syndactyly, Preax... |
ORPHA:64754 |
Tarp Syndrome |
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Optic atrophy, Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Failu... |
OMIM:311900 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
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Optic atrophy, Retinal degeneration, Camptodactyly of finger |
OMIM:214980 |
Frontonasal Dysplasia 1 |
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Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Cataract, Pectoral mus... |
OMIM:136760 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Polydactyly, Brachydactyly |
OMIM:617405 |
Coffin-Lowry Syndrome |
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Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum, Hyperconvex fingerna... |
ORPHA:192 |
Aarskog-Scott Syndrome |
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Broad palm, High anterior hairline, Abnormal vertebral segmentation and fusion, Small hand, Abnor... |
ORPHA:915 |
Alg8-Cdg |
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Optic atrophy, Intrauterine growth retardation, Talipes equinovarus, Small for gestational age, F... |
ORPHA:79325 |
Cone-Rod Dystrophy 3 |
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Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... |
OMIM:604116 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Subretinal deposits, Abnormality of the optic disc, Small cervical vertebral bodies, Cervical spi... |
ORPHA:397715 |
Retinitis Pigmentosa 25 |
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Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:602772 |
Gyrate Atrophy Of Choroid And Retina |
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Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... |
ORPHA:414 |
Cri-Du-Chat Syndrome |
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Optic atrophy, Metatarsus adductus, Small for gestational age, Short metatarsal, Premature grayin... |
OMIM:123450 |
Monosomy 9Q22.3 |
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Abnormality of the vertebral column, Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits... |
ORPHA:77301 |
Retinitis Pigmentosa 56 |
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Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... |
OMIM:613581 |
Kbg Syndrome |
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Vertebral fusion, Cutaneous syndactyly, Synophrys, Abnormal hair pattern, Cervical ribs, Thoracic... |
ORPHA:2332 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Anencephaly, Retinal coloboma, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Ce... |
OMIM:616546 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Microphthalmia, Vertebral fusion, Anophthalmia, Supernumerary ribs, Vertebral segmentation defect |
OMIM:221950 |
X-Linked Recessive Ocular Albinism |
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Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... |
ORPHA:54 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Optic atrophy, Hirsutism, Rocker bottom foot, Postaxial polydactyly, Failure to thrive, Long fing... |
OMIM:617527 |
Werner Syndrome |
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Abnormal hair morphology, Osteoporosis, Retinal degeneration, Cataract |
OMIM:277700 |
Trisomy 18 |
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Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of f... |
ORPHA:3380 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Intention tremor, Tortuosity of conjunctival vessels, Macular degeneration, Cataract, Ankle clonus |
ORPHA:284289 |
Muscle-Eye-Brain Disease |
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Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalu... |
ORPHA:588 |
Congenital Primary Aphakia |
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Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... |
ORPHA:83461 |
Juvenile Sialidosis Type 2 |
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Optic atrophy, Cherry red spot of the macula, Abnormal form of the vertebral bodies, Corneal opac... |
ORPHA:93399 |
Joubert Syndrome With Oculorenal Defect |
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Highly arched eyebrow, Aganglionic megacolon, Chorioretinal coloboma, Retinal dystrophy, Iris col... |
ORPHA:2318 |
Cockayne Syndrome B |
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Abnormal auditory evoked potentials, Abnormal hair morphology, Cerebral atrophy, Opacification of... |
OMIM:133540 |
Temtamy Preaxial Brachydactyly Syndrome |
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Tarsal synostosis, Optic atrophy, Highly arched eyebrow, Short metatarsal, Synophrys, Hitchhiker ... |
OMIM:605282 |
Mucolipidosis Iii Alpha/Beta |
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Soft tissue swelling of interphalangeal joints, Retinal degeneration, Irregular carpal bones, Aor... |
OMIM:252600 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Optic atrophy, Microphthalmia, Scarring alopecia of scalp, 3-4 toe syndactyly, Sandal gap, Brachy... |
OMIM:618727 |
Otodental Syndrome |
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Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, Microcornea |
ORPHA:2791 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Broad metacarpals, Hypertension, Hirsutism, Carpal osteolysis, Osteolysis involving bones of the ... |
ORPHA:371428 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Hypoplastic toenails, Hypoplastic thumbnail, Short 3rd metacarpal, Short 5th metacarpal, Curved d... |
ORPHA:370010 |
Retinitis Pigmentosa 14 |
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Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:600132 |
Congenital Radioulnar Synostosis |
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Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Anterior Segment Dysgenesis 5 |
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Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... |
OMIM:604229 |
Short Rib-Polydactyly Syndrome |
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Abnormal ilium morphology, Reduced bone mineral density, Syndactyly, Abnormal pelvis bone morphol... |
ORPHA:1505 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Sparse eyelashes, Epiphyseal stippling, Sparse and thin eyebrow, Abnormality of pelvic girdle bon... |
OMIM:302960 |