| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology |
ORPHA:351 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Morquio Syndrome C |
|
Platyspondyly, Corneal opacity |
OMIM:252300 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Scoliosis, Astigmatism, Defective DNA repair after ultraviolet radiation damage, Dementia |
OMIM:278760 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Hypogonadism, Kyphosis |
ORPHA:1875 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Secondary amenorrhea, Opacification of the corneal stroma, Hypogonadotropic hypogo... |
ORPHA:1643 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
| Lattice Corneal Dystrophy Type I |
|
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... |
ORPHA:98964 |
| Apolipoprotein A-I Deficiency |
|
Corneal opacity |
ORPHA:425 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Hypogonadism, Male hypogonadism, Cataract |
OMIM:240950 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Cognitive impairment, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:577 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Irregular vertebral endplates, Opacification of the corneal stroma, Intervertebral spa... |
OMIM:271630 |
| Bardet-Biedl Syndrome 18 |
|
Cognitive impairment, Cataract |
OMIM:615995 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... |
ORPHA:98960 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:2370 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Scoliosis, Kyphosis, Short neck, Cognitive impairment |
ORPHA:2744 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Scoliosis, Infertility, Dementia, Kyphosis, Cataract, Mental deterioration |
OMIM:614409 |
| Gómez-López-Hernández Syndrome |
|
Cognitive impairment, Corneal opacity |
ORPHA:1532 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Kyphosis |
ORPHA:85288 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Hypogonadism, Microcornea |
ORPHA:2528 |
| Alg2-Cdg |
|
Cognitive impairment, Cataract, Iris coloboma |
ORPHA:79326 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Macular Dystrophy, Corneal |
|
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions |
OMIM:217800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... |
OMIM:180550 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract, Kyphoscoliosis |
OMIM:212540 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion |
OMIM:608470 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Cataract, Hyperlordosis |
ORPHA:2310 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity |
ORPHA:1473 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Scoliosis, Cataract, Hypogonadism |
OMIM:268050 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract |
OMIM:604219 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Kyphosis, Cataract, Microcornea, Abnormality of the cervical spine, Hypogonadotropic h... |
ORPHA:48431 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae, Opacification of the co... |
OMIM:230650 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| X-Linked Endothelial Corneal Dystrophy |
|
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Megalocornea |
|
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... |
OMIM:309300 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Cataract, Hyperlordosis, Spinal rigidity |
OMIM:617404 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Scoliosis, Infertility, Reduced sperm motility, Dementia, Abnormal sperm head morphology, Abnorma... |
ORPHA:320391 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Cataract, Decreased fertility, Primary amenorrhea |
ORPHA:2410 |
| Parastremmatic Dwarfism |
|
Scoliosis, Kyphosis, Short neck |
OMIM:168400 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage, Cataract, Conjunctivitis, Keratoconjunct... |
OMIM:278730 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
| Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Kahrizi Syndrome |
|
Cataract, Thoracic kyphosis, Iris coloboma |
OMIM:612713 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Hypergonadotropic hypogonadism, Kyphosis, Cataract, Secondary amenorrhea |
ORPHA:3085 |
| Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Thoracic kyphosis, Iris coloboma |
ORPHA:171860 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Kyphosis |
OMIM:611225 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Beaking of vertebral bodies, Corneal opacity, Thoracic platyspondyly, Incre... |
OMIM:618961 |
| Sjogren-Larsson Syndrome |
|
Thoracic kyphosis, Opacification of the corneal epithelium |
OMIM:270200 |
| Alpha-Mannosidosis |
|
Scoliosis, Kyphosis, Corneal opacity, Cataract, Short neck |
ORPHA:61 |
| Limbal Stem Cell Deficiency |
|
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... |
ORPHA:171673 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... |
ORPHA:293603 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cognitive impairment, Cataract |
OMIM:615418 |
| Hemochromatosis, Type 4 |
|
Cataract, Impotence |
OMIM:606069 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea |
OMIM:269400 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... |
ORPHA:40 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... |
OMIM:122000 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Atlantoaxial abnormality, Kyphoscoliosis |
ORPHA:3433 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... |
OMIM:604229 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly |
ORPHA:85172 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Scheie Syndrome |
|
Short neck, Corneal opacity, Spondylolisthesis |
OMIM:607016 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Corneal opacity |
ORPHA:281090 |
| Peters Anomaly |
|
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... |
ORPHA:708 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Hypogonadism, Abnormality of the vertebral column |
OMIM:302950 |
| Flynn-Aird Syndrome |
|
Cataract, Dementia, Kyphoscoliosis |
OMIM:136300 |
| Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Corneal opacity, Abnormal vertebral morphology |
ORPHA:93476 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... |
OMIM:271530 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Scoliosis, Cataract, Premature ovarian insufficiency |
ORPHA:101006 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Developmental cataract, Hypergonadotropic hypogonadism, Primary amenorrhea, Microcornea, Kyphosco... |
OMIM:604168 |
| Oculoauricular Syndrome |
|
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea |
OMIM:612109 |
| Sialidosis Type 2 |
|
Kyphosis, Corneal opacity |
ORPHA:87876 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Autosomal Dominant Keratitis |
|
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... |
ORPHA:2334 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Cataract, Sacral dimple |
OMIM:608227 |
| Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Conjunctivitis, Keratitis, Defective DNA repair after ultraviolet radiation damage, Mental deteri... |
OMIM:278700 |
| Metatropic Dysplasia |
|
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Catar... |
ORPHA:2635 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Decreased fertility |
OMIM:616395 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... |
ORPHA:98973 |
| Hypomelanosis Of Ito |
|
Scoliosis, Cataract, Kyphosis, Iris coloboma |
OMIM:300337 |
| Sialidosis Type 1 |
|
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Corneal opacity, Cataract |
ORPHA:812 |
| Macular Corneal Dystrophy |
|
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... |
ORPHA:98969 |
| Norrie Disease |
|
Shallow anterior chamber, Dementia, Hypoplasia of the iris, Cataract, Opacification of the cornea... |
OMIM:310600 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Short neck |
OMIM:300718 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Cataract, Microcornea, Astigmatism, Myopic astigmatism |
OMIM:152950 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Corneal opacity, Spinal canal stenosis, Cognit... |
ORPHA:582 |
| Amoebic Keratitis |
|
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... |
ORPHA:67043 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Opacification of the corneal stroma, Hu... |
OMIM:313400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Hyperlordosis, Kyphosis, Opacification of the corneal stroma, Short neck |
OMIM:252605 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... |
OMIM:136800 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea |
OMIM:614170 |
| Senior-Loken Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:3156 |
| De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Keratitis, Defective DNA repair after ultraviolet radiation damage, Mental deteri... |
OMIM:278800 |
| Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... |
ORPHA:293381 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| Coats Disease |
|
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... |
OMIM:610256 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Linear Verrucous Nevus Syndrome |
|
Scoliosis, Iris coloboma, Cataract, Abnormal cornea morphology, Mental deterioration |
ORPHA:2611 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... |
OMIM:217700 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:290 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea |
ORPHA:83461 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Cataract, Hyperlordosis, Scoliosis |
ORPHA:1387 |
| Exfoliation Syndrome |
|
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... |
OMIM:177650 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Scoliosis, Developmental cataract, Cervical spinal canal stenosis, Thoracic kyphoscoliosis, Catar... |
ORPHA:436174 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Conjunctivitis, Keratitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Kyphosis, Microcornea, Abnormal vertebral morphology |
ORPHA:35173 |
| Hurler-Scheie Syndrome |
|
Scoliosis, Kyphosis, Corneal opacity |
OMIM:607015 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... |
OMIM:617315 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Cataract, Kyphosis, Mental deterioration |
ORPHA:79107 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Kyphosis, Motor deterioration |
ORPHA:796 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Gorlin Syndrome |
|
Scoliosis, Iris coloboma, Hemivertebrae, Vertebral fusion, Cataract, Hypogonadotropic hypogonadis... |
ORPHA:377 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Scoliosis, Cataract, Corneal opacity |
ORPHA:496790 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Abnormality of the intervertebral disk, Platyspondyly |
ORPHA:1345 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... |
OMIM:617319 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... |
OMIM:107250 |
| Baralle-Macken Syndrome |
|
Cataract, Kyphosis |
OMIM:619255 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Hypogonadism |
OMIM:601794 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Hypogonadism |
ORPHA:363741 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Sjögren-Larsson Syndrome |
|
Scoliosis, Kyphosis, Corneal erosion |
ORPHA:816 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Conjunctivitis, Keratitis, Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Herpes Simplex Virus Stromal Keratitis |
|
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... |
ORPHA:137599 |
| Retinitis Pigmentosa |
|
Keratoconus, Hypogonadism, Cataract |
ORPHA:791 |
| Autosomal Recessive Stickler Syndrome |
|
Cataract, Astigmatism, Irregular vertebral endplates, Platyspondyly |
ORPHA:250984 |
| Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity |
OMIM:619339 |
| Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
| Oculomaxillofacial Dysostosis |
|
Cognitive impairment, Corneal opacity |
ORPHA:1794 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Cataract, Abnormal vertebral morphology, Spina bifida occulta |
ORPHA:64754 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida... |
OMIM:169550 |
| Mental Retardation, Autosomal Dominant 23 |
|
Scoliosis, Hyperlordosis, Kyphosis, Sacral dimple, Astigmatism |
OMIM:615761 |
| Flynn-Aird Syndrome |
|
Scoliosis, Cataract, Kyphosis, Dementia |
ORPHA:2047 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... |
OMIM:116200 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Corneal opacity, Anterior beaking of lumbar ver... |
OMIM:253220 |
| Marinesco-Sjogren Syndrome |
|
Hypergonadotropic hypogonadism, Scoliosis, Developmental cataract, Kyphosis |
OMIM:248800 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
| Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Psychomotor deterioration, Nuclear cataract, Cataract, Premature ... |
ORPHA:79237 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Opacification of the corneal stroma, Short neck |
OMIM:614230 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... |
OMIM:609813 |
| Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
| Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
| Mietens Syndrome |
|
Cataract, Microcornea, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
| Wagr Syndrome |
|
Scoliosis, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
| Hurler Syndrome |
|
Progressive neurologic deterioration, Short neck, Biconcave vertebral bodies, Kyphosis, Corneal o... |
OMIM:607014 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process |
ORPHA:93315 |
| Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Scoliosis, Cataract |
OMIM:615704 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Scoliosis, Cataract, Kyphosis, Microcornea |
OMIM:616449 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... |
OMIM:613270 |
| Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Cataract, Secondary amenorrhea, Cognitive impairment, Decreas... |
ORPHA:352 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Decreased corneal thickness, Corneal arcus |
OMIM:217300 |
| Alg8-Cdg |
|
Cataract |
ORPHA:79325 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
| Classic Galactosemia |
|
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Cataract, Secondary amenorrhe... |
ORPHA:79239 |
| Brittle Cornea Syndrome 1 |
|
Scoliosis, Keratoconus, Decreased corneal thickness, Keratoglobus, Spondylolisthesis, Abnormal co... |
OMIM:229200 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Kyphosis, Lumbar hyperlordosis |
OMIM:616756 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Back pain, Kayser-Fleischer ring |
ORPHA:905 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... |
ORPHA:3163 |
| Pseudopseudohypoparathyroidism |
|
Cognitive impairment, Cataract, Short neck |
OMIM:612463 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Bethlem Myopathy 2 |
|
Kyphosis |
OMIM:616471 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Scoliosis, Cataract, Microphakia, Lens subluxation |
ORPHA:171844 |
| Joubert Syndrome 9 |
|
Scoliosis, Cataract, Astigmatism |
OMIM:612285 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Astigmatism, Cataract |
ORPHA:231183 |
| Jaberi-Elahi Syndrome |
|
Scoliosis, Cataract, Kyphosis |
OMIM:617988 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Cataract, Astigmatism |
OMIM:615986 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Platyspondyly, Thoracic kyphosis, Cataract, Abnormality of the interverteb... |
ORPHA:85194 |
| Atopic Keratoconjunctivitis |
|
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization |
ORPHA:163934 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Persistent pupillary membrane, Ectopia lentis |
OMIM:225200 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:93399 |
| Distal Monosomy 6P |
|
Scoliosis, Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hy... |
ORPHA:96125 |
| Mucopolysaccharidosis Type 7 |
|
Scoliosis, Corneal opacity, Anterior beaking of lumbar vertebrae, Short neck, Anterior beaking of... |
ORPHA:584 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Cataract, Developmental cataract |
OMIM:614482 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... |
OMIM:221900 |
| Dystonia, Juvenile-Onset |
|
Cataract, Kyphoscoliosis |
OMIM:607371 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
| Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract, Cognitive impairment |
ORPHA:912 |
| Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity, Spinal deformities |
OMIM:615084 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
| Trichothiodystrophy |
|
Developmental cataract, Thoracic kyphosis, Defective DNA repair after ultraviolet radiation damag... |
ORPHA:33364 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Rapid neurologic deterioration |
ORPHA:585 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis |
OMIM:618234 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Corneal opacity |
ORPHA:349 |
| Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scoliosis, Kyphosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes |
OMIM:301900 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Scoliosis, Progressive neurologic deterioration, Kyphosis |
ORPHA:85317 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Kyphosis, Opacification of the corneal stroma, Cognitive impairment, Shor... |
ORPHA:583 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Hypogonadism, Premature ovarian insufficiency, Dementia |
OMIM:609286 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Cataract, Hypogonadism, Short neck |
OMIM:612462 |
| Gm1 Gangliosidosis |
|
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal form of the vertebral bodies, Kyphosis, Corneal... |
ORPHA:354 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Opacification of the corneal stroma |
OMIM:601356 |
| Isolated Aniridia |
|
Aniridia, Peters anomaly, Cataract |
ORPHA:250923 |
| Isolated Ectopia Lentis |
|
Cognitive impairment, Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Mend Syndrome |
|
Cataract, Kyphosis |
OMIM:300960 |
| Monilethrix |
|
Cognitive impairment, Cataract |
ORPHA:573 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea, Short neck |
ORPHA:284160 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis |
OMIM:303350 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Galactosemia I |
|
Hypergonadotropic hypogonadism, Cataract, Premature ovarian insufficiency |
OMIM:230400 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy |
OMIM:602082 |
| Shashi-Pena Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617190 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Kyphosis |
OMIM:618291 |
| Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Corneal opacity, Rapid neurologic deterioration |
OMIM:272200 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
| Stickler Syndrome, Type I |
|
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Cataract, Mor... |
OMIM:108300 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... |
OMIM:253000 |
| Srd5A3-Cdg |
|
Cataract, Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... |
OMIM:253010 |
| Cataract 15, Multiple Types |
|
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract |
OMIM:615274 |
| Cockayne Syndrome Type 2 |
|
Scoliosis, Developmental cataract, Male hypogonadism, Kyphosis, Conjunctivitis |
ORPHA:90322 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Male infertility, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227650 |
| Pseudohypoparathyroidism, Type Ia |
|
Cognitive impairment, Cataract, Hypogonadism, Short neck |
OMIM:103580 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity |
ORPHA:309288 |
| Werner Syndrome |
|
Cataract, Hypogonadism |
OMIM:277700 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Scoliosis, Kyphosis, Short neck |
OMIM:611890 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Kyphosis, Thoracolumbar scoliosis |
OMIM:313420 |
| Myotonic Dystrophy 1 |
|
Cataract, Hypogonadism, Testicular atrophy |
OMIM:160900 |
| Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
| Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Caudal appendage, Relatively shor... |
OMIM:156530 |
| Classic Phenylketonuria |
|
Cataract, Memory impairment, Mental deterioration, Motor deterioration |
ORPHA:79254 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Iris coloboma, Cataract, Sclerocornea, Short neck |
ORPHA:251038 |
| Congenital Sialidosis Type 2 |
|
Cataract, Developmental cataract, Corneal opacity |
ORPHA:93400 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lumbar hyperlordosis, Opacification of ... |
OMIM:242900 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Kyphoscoliosis |
OMIM:163200 |
| Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology |
ORPHA:411777 |
| Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Kyphosis, Pterygium, Vertebral wedging |
OMIM:259450 |
| Trisomy 13 |
|
Scoliosis, Kyphosis, Iris coloboma, Aplasia/Hypoplasia of the iris, Cataract, Cognitive impairment |
ORPHA:3378 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity, Spinal deformities |
ORPHA:352447 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Sanjad-Sakati Syndrome |
|
Spinal canal stenosis, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
| Neurotrophic Keratopathy |
|
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... |
ORPHA:137596 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Iris coloboma, Corneal opacity |
ORPHA:899 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, Sclerocornea, Hemivertebrae |
ORPHA:77298 |
| Familial Dysautonomia |
|
Scoliosis, Heterochromia iridis, Corneal erosion, Corneal opacity, Abnormal pupil morphology |
ORPHA:1764 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:300831 |
| Trisomy 9P |
|
Scoliosis, Kyphosis, Sacral dimple, Short neck, Abnormal pupil morphology |
ORPHA:236 |
| Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Anterior wedging of T12, Deficient excision of UV-induced pyrimid... |
OMIM:227645 |
| Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Hypoplasia of the iris, Iridodonesis, Megalocornea, Abnormal anterior chambe... |
ORPHA:2479 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2429 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Ovoid vertebral bodies, Corneal opacity, Lumbar hyperlordosis, Short neck |
ORPHA:1830 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity, Butterfly vertebrae |
OMIM:301056 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Iris coloboma, Lens subluxation |
OMIM:216820 |
| Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
| Mental Retardation, Autosomal Dominant 26 |
|
Scoliosis, Kyphosis |
OMIM:615834 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Scoliosis, Kyphosis |
OMIM:618443 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis |
OMIM:617061 |
| Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:600901 |
| Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Mental Retardation, Autosomal Dominant 57 |
|
Scoliosis, Kyphosis |
OMIM:618050 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
| Mosaic Trisomy 8 |
|
Scoliosis, Short neck, Vertebral segmentation defect, Corneal opacity |
ORPHA:96061 |
| Cdkl5-Deficiency Disorder |
|
Scoliosis, Kyphosis |
ORPHA:505652 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Hypogonadism, Short neck, Spina bifida occulta, Kyphosis |
ORPHA:2983 |
| Bruck Syndrome |
|
Scoliosis, Platyspondyly, Kyphosis, Pterygium |
ORPHA:2771 |
| Aniridia 1 |
|
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... |
OMIM:106210 |
| Vogt-Koyanagi-Harada Disease |
|
Cognitive impairment, Cataract |
ORPHA:3437 |
| Harrod Syndrome |
|
Scoliosis, Cataract, Kyphosis |
ORPHA:2115 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Cognitive impairment, Kyphosis |
OMIM:614898 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... |
OMIM:256800 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism |
ORPHA:2719 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Kyphosis, Lens subluxation |
OMIM:609008 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Kyphoscoliosis, C1-C2 subluxation, Peripheral opacification of the cornea, Verte... |
OMIM:259600 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Vertebral fusion, Kyphosis |
OMIM:606612 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
| Alstrom Syndrome |
|
Scoliosis, Hypergonadotropic hypogonadism, Irregular menstruation, Kyphosis, Subcapsular cataract |
OMIM:203800 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:178148 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
| Larsen Syndrome |
|
Scoliosis, Hypoplastic cervical vertebrae, Beaking of vertebral bodies, Spondylolysis, Corneal op... |
OMIM:150250 |
| Usher Syndrome |
|
Astigmatism, Cataract, Decreased fertility, Cognitive impairment |
ORPHA:886 |
| Schaaf-Yang Syndrome |
|
Scoliosis, Hypogonadism, Kyphosis |
OMIM:615547 |
| Mucopolysaccharidosis Type 1 |
|
Scoliosis, Spinal canal stenosis, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:579 |
| Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Short neck, Kyphosis |
ORPHA:3409 |
| Crisponi Syndrome |
|
Scoliosis, Kyphosis, Cognitive impairment |
ORPHA:1545 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Scoliosis, Kyphosis |
ORPHA:352490 |
| Incontinentia Pigmenti |
|
Scoliosis, Corneal opacity, Cataract, Keratitis, Spina bifida occulta, Cognitive impairment |
ORPHA:464 |
| Mosaic Trisomy 9 |
|
Scoliosis, Short neck, Corneal opacity, Hemivertebrae |
ORPHA:99776 |
| Focal Dermal Hypoplasia |
|
Scoliosis, Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris, Cognitive impa... |
ORPHA:2092 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Scoliosis, Kyphosis, Short neck, Spinal rigidity |
ORPHA:75840 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Kyphosis, Vertebral segmentation defect |
ORPHA:2617 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Testicular atrophy, Secondary ameno... |
OMIM:157640 |
| Weismann-Netter Syndrome |
|
Scoliosis, Kyphosis, Horizontal sacrum |
OMIM:112350 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Keratitis, Opacifi... |
OMIM:308205 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Kyphosis |
OMIM:617435 |
| Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Corneal opacity |
ORPHA:570 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Mucolipidosis Iii Alpha/Beta |
|
Scoliosis, Hyperopic astigmatism, Opacification of the corneal stroma |
OMIM:252600 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Scoliosis, Kyphosis, Cognitive impairment |
ORPHA:1883 |
| Tbck-Related Intellectual Disability Syndrome |
|
Scoliosis, Short neck, Cognitive impairment, Corneal opacity |
ORPHA:488632 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cognitive impairment, Opacification of the corneal stroma |
OMIM:601853 |
| Rhizomelic Syndrome, Urbach Type |
|
Cognitive impairment, Kyphosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3098 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3454 |
| Mcdonough Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2471 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Platyspondyly, Hyperlordosis, Developmental glaucoma, Kyphosis, Short neck |
OMIM:251450 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Kyphosis |
OMIM:300354 |
| Hurler Syndrome |
|
Scoliosis, Abnormal vertebral morphology, Corneal opacity, Spinal canal stenosis, Short neck |
ORPHA:93473 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Hypogonadism, Kyphosis |
OMIM:615381 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Scoliosis, Cataract, Kyphosis |
ORPHA:88628 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Chordee |
OMIM:309801 |
| Norrie Disease |
|
Scoliosis, Erectile dysfunction, Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hyp... |
ORPHA:649 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
| Mucopolysaccharidosis Type 3 |
|
Scoliosis, Progressive neurologic deterioration, Dementia, Abnormal form of the vertebral bodies,... |
ORPHA:581 |
| Micro Syndrome |
|
Scoliosis, Cataract, Kyphosis, Microcornea |
ORPHA:2510 |
| Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:227646 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Abnormal cornea morphology |
OMIM:244400 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Kyphosis |
OMIM:259440 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Cataract, Opacification of the corneal stroma |
OMIM:211370 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Scoliosis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral bodies, Kypho... |
ORPHA:3042 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:255200 |
| Mucopolysaccharidosis, Type Vi |
|
Ovoid vertebral bodies, Anterior wedging of L2, Lumbar hyperlordosis, Opacification of the cornea... |
OMIM:253200 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Kyphosis |
OMIM:618484 |
| 3M Syndrome |
|
Scoliosis, Hyperlordosis, Increased vertebral height, Kyphosis, Decreased fertility, Short neck |
ORPHA:2616 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Sacral dimple |
OMIM:248340 |
| Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Hyperlordosis, Kyphosis, Kyphoscoliosis |
ORPHA:536516 |
| Widow'S Peak Syndrome |
|
Kyphosis |
OMIM:314570 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Abnormal anterior chamber morphology, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Platyspondyly, Abnormal vertebral morphology, Coronal cleft vertebrae, Beaking of vert... |
ORPHA:536471 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity, Kyphoscoliosis |
ORPHA:2962 |
| Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Scoliosis, Kyphosis |
OMIM:300861 |
| Farber Disease |
|
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology |
ORPHA:333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Scoliosis, Kyphosis, Corneal opacity, Abnormality of the cervical spine, Astigmatism |
ORPHA:464311 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Kyphosis |
OMIM:248760 |
| Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
| Cataract 5, Multiple Types |
|
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract |
OMIM:116800 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma |
OMIM:601499 |
| Transketolase Deficiency |
|
Cataract, Secondary amenorrhea, Conjunctivitis |
ORPHA:488618 |
| Stromme Syndrome |
|
Iris coloboma, Cataract, Peters anomaly, Microcornea, Sclerocornea |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Peters anomaly |
OMIM:236670 |
| 4Q21 Microdeletion Syndrome |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:238750 |
| Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
| Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
| Thanatophoric Dysplasia Type 2 |
|
Cognitive impairment, Platyspondyly, Kyphosis |
ORPHA:93274 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:464282 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Axenfeld anomaly, Ocular anterior segment dysgenesis, Peters anomaly, Opac... |
OMIM:612582 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Corneal opacity, Abnormality of the cervical spine, Astigmatism |
ORPHA:464306 |
| Neurofibromatosis Type 1 |
|
Scoliosis, Lisch nodules, Heterochromia iridis, Kyphosis, Corneal opacity, Cataract, Memory impai... |
ORPHA:636 |
| Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Keratitis |
OMIM:619016 |
| Cowden Syndrome 5 |
|
Scoliosis, Cataract, Kyphosis |
OMIM:615108 |
| Wilson Disease |
|
Dementia, Kayser-Fleischer ring |
OMIM:277900 |
| Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Corneal opacity, Cataract, Astigmatism, Short neck |
ORPHA:309282 |
| Diastrophic Dwarfism |
|
Scoliosis, Kyphosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
| Brachyolmia Type 3 |
|
Scoliosis, Platyspondyly, Kyphosis, Short neck |
OMIM:113500 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Opacification of the corneal stroma |
OMIM:614866 |
| Fryns Syndrome |
|
Short neck, Corneal opacity |
ORPHA:2059 |
| Congenital Disorder Of Deglycosylation |
|
Scoliosis, Corneal opacity, Corneal ulceration |
OMIM:615273 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Opacification of the corneal stroma |
OMIM:214110 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology |
ORPHA:2655 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Pycnodysostosis |
|
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Cogn... |
ORPHA:763 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Iris coloboma, Short neck |
ORPHA:2789 |
| Microphthalmia, Lenz Type |
|
Scoliosis, Hyperlordosis, Kyphosis, Iris coloboma, Cataract, Microcornea |
ORPHA:568 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Kyphosis, Vertebral fusion, Cataract, Vertebral segmentation defect |
ORPHA:96169 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal erosio... |
ORPHA:2273 |
| 3C Syndrome |
|
Scoliosis, Kyphosis, Iris coloboma, Hemivertebrae, Short neck |
ORPHA:7 |
| Frank-Ter Haar Syndrome |
|
Scoliosis, Kyphosis, Beaking of vertebral bodies |
ORPHA:137834 |
| Cowden Syndrome 6 |
|
Scoliosis, Cataract, Kyphosis |
OMIM:615109 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Scoliosis, Kyphosis, Short neck |
ORPHA:3191 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Cataract, Opacification of the corneal stroma, Corneal neovascularization |
OMIM:158310 |
| Carpenter Syndrome 1 |
|
Scoliosis, Sacral dimple, Opacification of the corneal stroma, Microcornea, Spina bifida occulta,... |
OMIM:201000 |
| Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Platyspondyly, Atlantoaxial instability, Beaking of vertebral bodies, Kyphosis, Hypopl... |
OMIM:607326 |
| Prader-Willi Syndrome |
|
Scoliosis, Infertility, Iris hypopigmentation, Oligomenorrhea, Kyphosis, Primary amenorrhea, Hypo... |
OMIM:176270 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
| Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis |
OMIM:300602 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Scoliosis, Buphthalmos, Platyspondyly, Azoospermia, Lentiglobus, Kyphosis, Corneal opacity, Catar... |
ORPHA:534 |
| Mucolipidosis Ii Alpha/Beta |
|
Lower thoracic interpediculate narrowness, Beaking of vertebral bodies T12-L3, Ovoid vertebral bo... |
OMIM:252500 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Kyphosis |
OMIM:300280 |
| Cockayne Syndrome A |
|
Dementia, Irregular menstruation, Kyphosis, Cataract, Opacification of the corneal stroma, Hypogo... |
OMIM:216400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2181 |
| Fabry Disease |
|
Conjunctival telangiectasia, Corneal opacity, Cataract, Cognitive impairment, Corneal dystrophy |
ORPHA:324 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Short neck, Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
| Atkin-Flaitz Syndrome |
|
Scoliosis, Kyphosis |
OMIM:300431 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Premature ovarian insufficiency, Chordee, Cataract, Thoracic scoliosis |
OMIM:176690 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Scoliosis, Astigmatism, Kyphosis |
OMIM:618493 |
| Atypical Rett Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:3095 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Platyspondyly, Kyphosis, Back pain, Lumbar hyperlordosis, Abnormally ossified vertebra... |
ORPHA:94068 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Pterygium, Opacification of the corneal stroma, Keratitis,... |
ORPHA:910 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Scoliosis, Azoospermia, Corneal opacity, Thoracolumbar kyphosis |
ORPHA:2072 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
