Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals |
OMIM:219900 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Myopathy |
ORPHA:2579 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance |
ORPHA:1178 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Multiple joint contractures, Limb-girdle muscle weakness, Depress... |
ORPHA:352470 |
Infantile Nephropathic Cystinosis |
|
Rickets, Pigmentary retinopathy, Abnormal cornea morphology, Aminoaciduria, Corneal crystals, Pol... |
ORPHA:411629 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Abnormality of bone min... |
ORPHA:3156 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract, Tendon xanthomatosis |
OMIM:618463 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Myopathy, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Retinopathy, Oral-pharyngeal dysphagia, Retina... |
OMIM:219800 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fiber diamet... |
OMIM:619473 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochondrial morphology, Up... |
ORPHA:99013 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Ir... |
ORPHA:644 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... |
OMIM:204000 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy |
OMIM:609016 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Choreoatheto... |
OMIM:300438 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Inability to walk, Ataxia, Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy |
ORPHA:3416 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma |
ORPHA:461 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Ragged-red muscle fibers, Decreased activity of mitoc... |
OMIM:252011 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic atrophy, Abnormal ... |
ORPHA:3152 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Cryptorchidism, Pigmentary retinopathy, Distal amyotrophy, Retinal degener... |
OMIM:275400 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Pigmentary retinopathy, Osteoporosis, Myopathy |
OMIM:618234 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradyki... |
ORPHA:228346 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... |
ORPHA:2790 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Depression, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Joint stiffness, Optic at... |
ORPHA:1466 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy |
ORPHA:480 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking |
ORPHA:564003 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Opacification of the corneal stroma |
OMIM:230650 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Irritability, Pigmentary retinopathy, Dysphagia, Rod-cone dystrophy |
OMIM:264470 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Pigmentary retinopathy, Gait imbalance, Dysphagia, Loss of ambulation, W... |
ORPHA:329336 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, Carpal osteolysis |
OMIM:277950 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Waddling gait, Pigmentary retinopathy |
OMIM:619090 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Ataxia |
OMIM:266130 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Craniosynostosis, Depression, Self-injurious behavior, Opacification of th... |
OMIM:601853 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Juvenile Nephropathic Cystinosis |
|
Elevated circulating creatinine concentration, Abnormal cornea morphology, Aminoaciduria, Corneal... |
ORPHA:411634 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacificat... |
OMIM:256800 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Cataract, Ataxia, Broad-based gait, Bone ... |
OMIM:609033 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Joint stiffness, Corneal eros... |
ORPHA:816 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoa... |
OMIM:214110 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokines... |
ORPHA:96 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Decreased muscle mass, Limited wrist extension,... |
OMIM:108145 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism |
OMIM:308100 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Upper limb muscle weakness, Pigmentary retinopathy, Pseudobulbar paralysis, Retinal flecks, Yello... |
ORPHA:100996 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Inability to walk, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy... |
OMIM:613156 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Opt... |
ORPHA:2801 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Depression, Progressive cerebellar ataxia, Disinhibition, Gene... |
ORPHA:275872 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Flexion contracture... |
ORPHA:141 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Cryptorchidism, Ataxia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology, Joint hyperm... |
OMIM:300831 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Osteolysis |
ORPHA:3019 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Increased susceptibility to fractures, Pigmentary retinopat... |
ORPHA:216866 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Ataxia, Aplasia/Hypoplasia of the abdominal... |
ORPHA:578 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Irritability, Pigmentary retinopathy, ... |
ORPHA:3208 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Toe extensor amyotrophy, Bull's eye maculopathy, Impulsivity, Fractures of the long b... |
ORPHA:157850 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal ... |
ORPHA:970 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Joint hyperflexibility, Heterochromia iridis, Abnormality o... |
ORPHA:1390 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Polydipsia, Rod-cone dystrophy, P... |
OMIM:615986 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Joubert Syndrome 28 |
|
Joint laxity, Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Central posterior corneal opacity, Abnormal ... |
OMIM:244600 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Depression, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Emotional l... |
ORPHA:79264 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Reduced bone mineral density, Loss of ambulation, Retinal degeneration, Hype... |
ORPHA:581 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Arthritis, Myopathy, Dysphagia, Increased variability in mu... |
ORPHA:397744 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan... |
OMIM:259600 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Abnor... |
ORPHA:2788 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Cryptorchidism, Unsteady gait, Epiphyseal stipplin... |
OMIM:214100 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma |
OMIM:215250 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Unsteady gait, Retinal degeneration |
OMIM:520000 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Generalized joint laxity, Increased variability in muscle fiber diameter, Dysm... |
ORPHA:502423 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pete... |
OMIM:612582 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Proteus Syndrome |
|
Mandibular hyperostosis, Depigmentation/hyperpigmentation of skin, Calvarial hyperostosis, Limbal... |
OMIM:176920 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Retina... |
OMIM:252600 |
Mepan Syndrome |
|
Ataxia, Decreased activity of mitochondrial complex IV, Optic atrophy, Decreased activity of mito... |
ORPHA:508093 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Ataxia, Rod-cone dystrophy, Gai... |
ORPHA:88628 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal co... |
ORPHA:2635 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Inability to walk, Dysmetria, Depression, Limb ataxia, Pigmentary retinopathy, Dysdiadoch... |
OMIM:617675 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Mulibrey Nanism |
|
Corneal dystrophy, Pigmentary retinopathy, Astigmatism, Iris coloboma, Thickened cortex of long b... |
OMIM:253250 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma, Joint stiffness |
OMIM:252605 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Ataxia, Rhabdomyolysis, Depression, Pigmentary retinopathy |
ORPHA:79095 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Inability to walk, Osteolysis invol... |
OMIM:166300 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual... |
ORPHA:168491 |
Farber Disease |
|
Skeletal muscle atrophy, Corneal opacity, Flexion contracture, Osteoporosis, Arthritis, Abnormal ... |
ORPHA:333 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Corneal opacity, Flexion contracture, Osteoporosis, Abnormal mac... |
ORPHA:87876 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Ataxia, Optic atrophy, Athetosis, Pigmentary retinopat... |
OMIM:617282 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Cataract, Abnormality of retinal pigmentation, Decreased testicular size |
ORPHA:3085 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Cryptorchidism, Optic atrophy, Microcornea, Opacification of the corne... |
OMIM:201000 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Leigh Syndrome |
|
Emotional lability, Optic atrophy, Ataxia, Pigmentary retinopathy |
OMIM:256000 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Distal amyotrophy, Opacification of the corneal st... |
OMIM:205400 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Broad-based gait, Cataract, Ataxia, Scapular winging, Centrally nucleate... |
OMIM:607459 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Hypermelanotic macule, Bilateral cryptorchidism, Astigmatism, Opacific... |
OMIM:242900 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased e... |
OMIM:602541 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy |
OMIM:560000 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Ataxia, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Abnormal retinal nerve fiber layer ... |
ORPHA:1215 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:290 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket... |
OMIM:268315 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Corneal opacity, Ataxia, Joint stiffness, Osteoporosis, Opacification of the cornea... |
OMIM:253010 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Bradykinesia, Undetectable visual evoke... |
OMIM:601338 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... |
ORPHA:466768 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal flash visual evoked potentials, Skeletal muscle atrophy, Optic atrophy, Dysmetria, Abnor... |
ORPHA:98755 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Epiphyseal stip... |
OMIM:614866 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Ataxia, Chorioretinal atrophy |
OMIM:245800 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Joint stiffness, Cryptorchidism, Optic atrophy, Mi... |
ORPHA:2510 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Decreased muscle mass, Ataxia, Hyperpigmentation of the skin, Akinesia, Retinal de... |
OMIM:234200 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Hurler Syndrome |
|
Corneal opacity, Joint stiffness, Flexion contracture, Cranial hyperostosis, Macroglossia, Opacif... |
OMIM:607014 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Decreased activity of mitochondrial complex IV, Ragged-red muscle... |
OMIM:600462 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Late-Infantile/Juvenile Krabbe Disease |
|
Ataxia, Neuromuscular dysphagia, Upper limb muscle weakness, Irritability, Gait disturbance, Atte... |
ORPHA:206443 |
Cystinosis |
|
Corneal opacity, Rickets, Myopathy, Aminoaciduria, Gait disturbance, Retinopathy, Polydipsia, Abn... |
ORPHA:213 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Depression, Macroglossia |
ORPHA:309288 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Depression, Myopathy, Astigmatism |
ORPHA:886 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology, Mottled pigmentation |
ORPHA:1525 |
Cockayne Syndrome A |
|
Hip contracture, Cataract, Ataxia, Retinal atrophy, Cryptorchidism, Retinal pigment epithelial mo... |
OMIM:216400 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis... |
ORPHA:73 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Flexion contracture, Unsteady gait, Optic atrophy, Gait distu... |
ORPHA:35069 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Ataxia, Hypermelanotic macule, ... |
ORPHA:910 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Cryptorchidism, Athetosis, Corneal arcus, Distal amyotrophy, Joint hypermobility |
OMIM:219150 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Osteoporosis, Opacification of the corneal stroma, Waddling gait |
OMIM:253000 |
Wolfram Syndrome 1 |
|
Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Dysphagia, Testicular atrophy |
OMIM:222300 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Cockayne Syndrome B |
|
Ataxia, Cryptorchidism, Limitation of joint mobility, Osteoporosis, Optic atrophy, Ivory epiphyse... |
OMIM:133540 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab... |
ORPHA:2741 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia... |
OMIM:601559 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Rheumatoid ... |
ORPHA:85410 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Retinal pigment epithelial mottling |
OMIM:619517 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysph... |
ORPHA:352447 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Optic atrophy, Dysphagia, Abnormality of visual ... |
ORPHA:485421 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Hypopigmented skin patches, Opacification of the corneal stroma |
ORPHA:3453 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Cryptorchidism |
OMIM:601499 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cataract, Ataxia, Retinopathy |
ORPHA:773 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Broad-based gait, Cataract, Multiple joint contractures, Band keratopathy, Hyperpigme... |
ORPHA:2959 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Joint stiffness, Optic atrophy, Hypopigmentation o... |
ORPHA:1493 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Skeletal muscle at... |
ORPHA:902 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Abnormality of retinal pigmentation, Cataract, Skeletal muscle atrophy... |
ORPHA:192 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma |
OMIM:313400 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Beta-alaninuria, Cataract, Retinal pigment epithelial mott... |
OMIM:614105 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait disturbance, Decr... |
OMIM:614170 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Ataxia, Optic atrophy, Dysmetria, Depression, Pigmentary retinopat... |
ORPHA:96180 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Loss of ambulation, Skelet... |
OMIM:619518 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Abnormal cortical bone morphology, Limitation of joint mobility, Recurre... |
ORPHA:1486 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Diastasis recti, Craniosynostosis, Limitation of joint mobility, Macroglossia, Tip-to... |
OMIM:252500 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Ataxia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Cam... |
OMIM:251300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritab... |
OMIM:264700 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Unsteady gait, Macroglossia, Gait disturbance, Dysphagia |
ORPHA:412217 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... |
OMIM:613154 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Facial hypotonia, Inability t... |
ORPHA:404454 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Anorexia,... |
ORPHA:394 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Oculoectodermal Syndrome |
|
Hyperactivity, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea, Astigmatism, Opacifica... |
OMIM:600268 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Optic atrophy |
ORPHA:585 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Mucopolysaccharidosis Type 6 |
|
Macroglossia, Opacification of the corneal stroma, Joint stiffness |
ORPHA:583 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:617023 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Retinopathy, Im... |
ORPHA:580 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Osteoporosis, Reduced bone mineral density, Pigmentary retinopathy, Rod-cone... |
ORPHA:2235 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Skeletal muscle atrophy, Aminoaciduria, Ataxia |
ORPHA:1933 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... |
ORPHA:289157 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D... |
ORPHA:100924 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Cataract, Band keratopathy, Reduced bone mineral dens... |
ORPHA:79443 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Abetalipoproteinemia |
|
Osteopenia, Abnormality of retinal pigmentation, Broad-based gait, Ataxia, Rod-cone dystrophy, Dy... |
ORPHA:14 |
White-Sutton Syndrome |
|
Joint laxity, Waddling gait, Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Congenital ... |
OMIM:616364 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:1496 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polydipsia, Ro... |
OMIM:615994 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Aminoaciduria, Gait dis... |
ORPHA:436271 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Distal amyotrophy, Steppage gait, Abnormality of visual evoked ... |
OMIM:601152 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy, Ataxia |
OMIM:608629 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Cryptorchidism, Bulimia, Agitation, Generalized amyotrophy, Abnormality of vis... |
ORPHA:314389 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Opacificatio... |
ORPHA:1692 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling, Unsteady gait, Knee flexion contractu... |
OMIM:618733 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism, Joint stiffness |
ORPHA:1824 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:277440 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Mac... |
ORPHA:48818 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Lentiglobus, Progressive gait ataxia, Retinal ar... |
ORPHA:191 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Subcapsular cataract, Pigmentary retinopathy |
OMIM:268020 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Dystonic gait, Optic atrophy, Limb hypertonia, Astigmatism, Abnormality of visual evoked potentia... |
ORPHA:480898 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Aminoaciduria, Increased intramyocellular lipid dr... |
OMIM:220110 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Unsteady gait, Distal amyotrophy, Gait disturbance, Abnormality of visual ev... |
OMIM:601455 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Optic atrophy, Shuffling gait, Attention deficit hyperactivity disorder, Dysph... |
ORPHA:52368 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Pigmentary retinopathy, Skeletal myopathy, Tip-toe gait, Left ventricular hypertr... |
ORPHA:746 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... |
OMIM:600081 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Abnormal mitochondrial shape, Aggressive behavior, Unsteady gait, Flexio... |
ORPHA:17 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Rhabdomyolysis, Myopathy, Pigmentary retinopathy |
OMIM:609015 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Ataxia, Optic neuropathy, Aggressive behavior, Abnormal retinal va... |
ORPHA:909 |
Barth Syndrome |
|
Skeletal myopathy, Fair hair, Gait disturbance, Abnormal mitochondrial morphology |
OMIM:302060 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Joint stiffness, Optic atrophy, Choreoathetosis, Gait disturbance, Abnormality of visual ... |
ORPHA:702 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l... |
ORPHA:263297 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop... |
OMIM:267750 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull's eye ma... |
OMIM:216550 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Ataxia, Difficulty walking |
ORPHA:320401 |
Blau Syndrome |
|
Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Tendonitis, Arthritis, Iritis, Fl... |
OMIM:186580 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ... |
OMIM:612469 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Tendon xanthomatosis |
OMIM:603776 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus, Tendon xanthomatosis |
OMIM:143890 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Difficulty... |
OMIM:241530 |
Friedreich Ataxia |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Mitochondrial malic enzyme reduced, Abnormality ... |
OMIM:229300 |
Cockayne Syndrome Type 1 |
|
Cataract, Ataxia, Foot joint contracture, Hypermelanotic macule, Cryptorchidism, Optic atrophy, P... |
ORPHA:90321 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cataract, Ataxia, Abnormal mitochondrial shape, Optic atrophy, Gait ataxia |
ORPHA:543470 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Joint stiffness, Optic atrophy, Gait disturbance, Dysphagia, Thin bony cortex |
OMIM:230600 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Walker-Warburg Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Cataract, Corneal opacity, Chorioretinal dysplasia, ... |
ORPHA:899 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Anorexia, Melanocytic nevus, Multip... |
ORPHA:1969 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock, Reduced bone mineral density |
ORPHA:742 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Optic atrophy, Unsteady gait, Ataxia |
OMIM:256600 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Astigmatism |
OMIM:617523 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Abnormality of visual evoked p... |
ORPHA:309256 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Hypopigmented skin patches, Keratoconjunctivitis, Joint hyperflexibility... |
ORPHA:2907 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:2163 |
H Syndrome |
|
Recurrent fractures, Osteolysis, Azoospermia, Corneal arcus, Camptodactyly, Decreased testicular ... |
ORPHA:168569 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Astigmatism, Abnormality of visual evoked potentials, Laryngotracheomalacia, Limb ... |
OMIM:616875 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Ataxia, Join... |
ORPHA:636 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy, Gait disturbance |
ORPHA:2971 |
Lathosterolosis |
|
Pathologic fracture, Cataract, Osteoporosis, Opacification of the corneal stroma |
OMIM:607330 |
Melas |
|
Ataxia, Ragged-red muscle fibers, Optic atrophy, Depression, Pigmentary retinopathy, Myopathy, Ga... |
ORPHA:550 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob... |
OMIM:125310 |
Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Ragged-red muscle fibers, Ataxia |
OMIM:530000 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Freckling |
OMIM:610651 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Retinal dystrophy, Hyperautofluorescen... |
OMIM:209900 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Testicular neoplasm, Fibrou... |
ORPHA:249 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Flexion contracture, Popliteal pterygium, Opacification of the corneal ... |
OMIM:263650 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Camptodactyly |
OMIM:614230 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy, Decreased circ... |
ORPHA:71212 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Abno... |
ORPHA:193 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Flexion contracture, Macroglossia, Tracheobronc... |
OMIM:309900 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:612291 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Oculodentodigital Dysplasia |
|
Cataract, Ataxia, Camptodactyly of finger, Cranial hyperostosis, Optic atrophy, Abnormality iris ... |
ORPHA:2710 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Inability to walk, Abnormality of pattern visual evoked potentials, Generalized limb musc... |
ORPHA:2822 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Hyperostosis frontalis interna, Subcapsular cata... |
OMIM:203800 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility |
OMIM:617952 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Pigmentary retinopathy, Skeletal muscle atrophy |
ORPHA:110 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Congenital diaphragmatic ... |
ORPHA:3380 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
Lowry-Wood Syndrome |
|
Elbow flexion contracture, Pigmentary retinopathy, Limited elbow extension |
OMIM:226960 |
Khan-Khan-Katsanis Syndrome |
|
Peters anomaly, Corneal scarring, Buphthalmos, Pigmentary retinopathy, Dysphagia, Joint contracture |
OMIM:618460 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anorexi... |
ORPHA:91500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma, Muscular dystrophy... |
OMIM:615287 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Joint contracture, Limb hypertonia |
OMIM:614457 |
Familial Dysautonomia |
|
Corneal opacity, Recurrent fractures, Ataxia, Abnormal pupil morphology, Corneal erosion, Optic a... |
ORPHA:1764 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... |
ORPHA:79430 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Reti... |
ORPHA:2556 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Azoospermia, Corneal arcus, Joint contracture... |
OMIM:602782 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Skel... |
ORPHA:79474 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Flexion contracture, Opt... |
ORPHA:505248 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Reduced bone mineral density, Aminoaciduria, Polydipsia |
ORPHA:47159 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Emotional lability, Progressive gait ataxia, Optic atrophy |
ORPHA:309263 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,... |
OMIM:240300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Fle... |
ORPHA:258 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos... |
OMIM:272460 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abd... |
ORPHA:175 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posterior subcapsular catara... |
OMIM:605822 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Craniosynostosis,... |
ORPHA:309282 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Ragged-red muscle fibers, Optic atrophy, Gait ataxia, Pigmentary retinopathy, Dysphagia, ... |
ORPHA:255210 |
Melnick-Needles Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic ... |
ORPHA:2484 |
Infantile Krabbe Disease |
|
Optic atrophy, Hypopigmented skin patches, Irritability, Shoulder girdle muscle weakness, Abnorma... |
ORPHA:206436 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Fryns Syndrome |
|
Cryptorchidism, Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodac... |
OMIM:229850 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Ataxia, Optic atrophy, Anisocoria, Abnormality of visual evoked potentials, Hyperpigmentation of ... |
OMIM:231550 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Depression, Progressive gait ataxia, Difficulty walking, Abnormality of visual evo... |
ORPHA:309271 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Inability to walk, Large c... |
ORPHA:167 |
Dysbetalipoproteinemia |
|
Corneal arcus, Tendon xanthomatosis, Gout |
ORPHA:412 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Decreased muscle mass, Recurrent fract... |
OMIM:309583 |
Dent Disease |
|
Cataract, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bon... |
ORPHA:1652 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
ORPHA:2526 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy, Homocystinuria, Pigmentary retinopathy, Cystathioninuria |
OMIM:277400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor... |
ORPHA:217085 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Cryptorchidism, Hypopigmented skin patches, Synostosis o... |
ORPHA:3121 |
Noonan Syndrome 9 |
|
Cryptorchidism, Prominent corneal nerve fibers |
OMIM:616559 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor... |
ORPHA:217093 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Congenital diaphragmatic hernia, Pigmentary retinopathy, Peters anomaly, ... |
OMIM:309801 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Macroorchidism, Generalized... |
ORPHA:744 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurrent fractures, ... |
ORPHA:355 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Alagille Syndrome 1 |
|
Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorioretinal atrophy, Microcor... |
OMIM:118450 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... |
ORPHA:2796 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... |
ORPHA:50 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentat... |
ORPHA:79282 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Joint stiffness, Microspherophakia, Elbow ... |
OMIM:608328 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Osteogenesis Imperfecta |
|
Osteopenia, Corneal opacity, Recurrent fractures, Ataxia, Fractures of the long bones, Osteoarthr... |
ORPHA:666 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Facial palsy, Cryptorchidism, Cranial hyperostosis, Limitation of... |
ORPHA:2658 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Rhabdomyosarcoma, Retinal pigment epithelial mottling... |
OMIM:251260 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Thin bony... |
OMIM:277600 |
Metachromatic Leukodystrophy |
|
Ataxia, Tip-toe gait, Gait disturbance, Abnormality of visual evoked potentials, Emotional labili... |
ORPHA:512 |
Sitosterolemia 1 |
|
Arthritis, Corneal arcus |
OMIM:210250 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Developmental glaucoma, Osteoporosis, Buphthalmos, Camptodactyly, Megalocornea, Cafe-... |
OMIM:249420 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Pearson Syndrome |
|
Cataract, Ataxia, Corneal stromal edema, Pigmentary retinopathy, Dysphagia, Cafe-au-lait spot, Hy... |
ORPHA:699 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Craniosynostosis, Cryptorchidism, Elbow fle... |
OMIM:268300 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Fumarase Deficiency |
|
Conjunctival icterus, Aminoaciduria, Mitochondrial swelling, Optic atrophy |
OMIM:606812 |
Lipodystrophy, Familial Partial, Type 7 |
|
Cataract, Dysmetria, Gait ataxia, Developmental cataract, Pigmentary retinopathy, Dysdiadochokine... |
OMIM:606721 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... |
OMIM:613848 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Juvenile rheumatoid arthritis, Axenfeld anomaly |
OMIM:266270 |
Noonan Syndrome 10 |
|
Prominent corneal nerve fibers, Cryptorchidism, Left ventricular hypertrophy, Cafe-au-lait spot, ... |
OMIM:616564 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Optic atrophy, Hydrocele testis, Abnormality of visual evoked poten... |
ORPHA:79330 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Cataract, Corneal opacity, Camptodactyly of finger, Ataxia, Optic disc hypoplasia, Cr... |
ORPHA:3455 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Cryptorchidism, Opacification of the corneal stroma, Recurrent corneal erosions, Corne... |
OMIM:308205 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Optic atrophy, Sclerosis of skull base, Optic nerve compression, Thin bony cort... |
OMIM:619727 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
Hardikar Syndrome |
|
Irritability, Osteoporosis, Pigmentary retinopathy |
OMIM:301068 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Abnormality o... |
ORPHA:667 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be... |
ORPHA:353281 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Osteoporosis, Ataxia, Abnormality of visual evoked potentials |
OMIM:203700 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Joint stiffness, Arthritis, Macroglossia, Macroorchidism, Abnormal cortic... |
ORPHA:93 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... |
ORPHA:71505 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced be... |
ORPHA:353277 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Prominent corneal nerve fibers, Proximal amyotrophy |
ORPHA:653 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |