Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
Galactosialidosis |
|
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column |
ORPHA:351 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage, Cataract |
OMIM:278780 |
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 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Winchester Syndrome |
|
Kyphosis, Corneal opacity |
OMIM:277950 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Morquio Syndrome C |
|
Corneal opacity, Platyspondyly |
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 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Cataract, Hypogonadism |
ORPHA:1875 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Secondary amenorrhea, Sacral ... |
ORPHA:1643 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cognitive impairment, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
Xeroderma Pigmentosum, Complementation Group F |
|
Scoliosis, Astigmatism, Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA ... |
OMIM:278760 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... |
OMIM:271630 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Cognitive impairment |
OMIM:615995 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2370 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Cataract |
ORPHA:85288 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Mental deterioration, Scoliosis, Cataract, Dementia |
OMIM:614409 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis, Cognitive impairment |
ORPHA:2744 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Cognitive impairment |
ORPHA:1532 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Hypogonadism |
ORPHA:2528 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Cataract |
OMIM:212540 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Cataract, Developmental cataract |
OMIM:619420 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Opacification of the corneal strom... |
OMIM:230650 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Microcornea, Cataract, Abnormality of the cer... |
ORPHA:48431 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Scoliosis, Hypogonadism |
OMIM:268050 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration |
OMIM:252650 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Decreased fertility |
ORPHA:2410 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Cognitive impairment, Scoliosis, Cataract, Abnormal sperm he... |
ORPHA:320391 |
Kahrizi Syndrome |
|
Thoracic kyphosis, Iris coloboma, Cataract |
OMIM:612713 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Thoracic kyphosis, Iris coloboma, Cataract |
ORPHA:171860 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Cataract, Scoliosis |
ORPHA:101006 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratitis, Corneal neovascularization, Mental deterioration, Defective DNA repair after ultraviol... |
OMIM:278730 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hypergonadotropic hypogonadism, Hyperlordosis, Secondary amenorrhea, Cataract |
ORPHA:3085 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Lumbar platyspondyl... |
OMIM:618961 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Alpha-Mannosidosis |
|
Kyphosis, Corneal opacity, Short neck, Scoliosis, Cataract |
ORPHA:61 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Scheie Syndrome |
|
Corneal opacity, Short neck, Spondylolisthesis |
OMIM:607016 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Hypogonadism |
ORPHA:281090 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Corneal opacity, Abnormal vertebral morphology |
ORPHA:93476 |
Flynn-Aird Syndrome |
|
Kyphoscoliosis, Cataract, Dementia |
OMIM:136300 |
Harel-Yoon Syndrome |
|
Corneal opacity, Scoliosis, Developmental cataract |
OMIM:617183 |
Sialidosis Type 2 |
|
Kyphosis, Corneal opacity |
ORPHA:87876 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Abnormality of the vertebral column, Cataract, Hypogonadism |
OMIM:302950 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Cataract, Hypoplasia of the odontoid process |
ORPHA:85172 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Defective DNA repair after ultraviolet radiation damage, Scoliosis, Premature o... |
OMIM:610965 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Senior-Loken Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:3156 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Sialidosis Type 1 |
|
Kyphosis, Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies, Cataract |
ORPHA:812 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Hypomelanosis Of Ito |
|
Kyphosis, Iris coloboma, Cataract, Scoliosis |
OMIM:300337 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Thoracic kyphosis, Astigmatism |
OMIM:270200 |
Metatropic Dysplasia |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cataract, Abnormal intervertebral dis... |
ORPHA:2635 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Mental deteri... |
OMIM:278700 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Short neck, Opacification of the corneal stroma, Scoliosis, Hyperlordosis |
OMIM:252605 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Corneal opacity, Cognitive impairment, Platyspondyly, Short neck... |
ORPHA:582 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Thoracic kyphoscoliosis, Catara... |
ORPHA:436174 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract |
OMIM:152950 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Sandhoff Disease |
|
Kyphosis, Motor deterioration, Progressive psychomotor deterioration |
ORPHA:796 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
OMIM:300718 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:190 |
Congenital Rubella Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:290 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Mental deterioration, Scoliosis, Iris coloboma, Cataract |
ORPHA:2611 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Cataract |
OMIM:613153 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Cataract, Scoliosis |
ORPHA:496790 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Baralle-Macken Syndrome |
|
Kyphosis, Cataract |
OMIM:619255 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Hypogonadism |
OMIM:601794 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis |
OMIM:278740 |
Gorlin Syndrome |
|
Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Scoliosis, Iris coloboma, Catarac... |
ORPHA:377 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Hypogonadism |
ORPHA:363741 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Mental deterioration, Kyphosis, Cataract, Scoliosis |
ORPHA:79107 |
Galactokinase Deficiency |
|
Nuclear cataract, Hypergonadotropic hypogonadism, Psychomotor deterioration, Cataract, Premature ... |
ORPHA:79237 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Cataract, Abnormal intervertebral disk morphology |
ORPHA:1345 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis, Corneal erosion |
ORPHA:816 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Hyperlordosis, Astigmatism, Sacral dimple |
OMIM:615761 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Scoliosis, Premature ovarian insufficiency |
OMIM:618124 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Hemochromatosis, Type 4 |
|
Impotence, Cataract |
OMIM:606069 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Flynn-Aird Syndrome |
|
Kyphosis, Cataract, Scoliosis, Dementia |
ORPHA:2047 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cognitive impairment |
ORPHA:1794 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis |
OMIM:278720 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium |
OMIM:619339 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Cataract, Microcornea, Scoliosis |
OMIM:616449 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Spina bifida occulta, Cataract, Scoliosis |
ORPHA:64754 |
Classic Galactosemia |
|
Mental deterioration, Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Seconda... |
ORPHA:79239 |
Marinesco-Sjogren Syndrome |
|
Hypergonadotropic hypogonadism, Kyphosis, Scoliosis, Developmental cataract |
OMIM:248800 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Mietens Syndrome |
|
Corneal opacity, Cataract, Microcornea, Sclerocornea |
ORPHA:2557 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Cataract |
ORPHA:1867 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Lens subluxation, Cataract, Scoliosis |
ORPHA:171844 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoli... |
OMIM:253220 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Spondylolisthesis, Scoliosis, Keratoconus, Keratoglobus, Decreased co... |
OMIM:229200 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Back pain, Kayser-Fleischer ring |
ORPHA:905 |
Pseudopseudohypoparathyroidism |
|
Short neck, Cataract, Cognitive impairment |
OMIM:612463 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... |
OMIM:221900 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Joubert Syndrome 9 |
|
Cataract, Scoliosis, Astigmatism |
OMIM:612285 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... |
OMIM:609813 |
Aniridia 2 |
|
Iris coloboma, Lens subluxation, Cataract, Aniridia |
OMIM:617141 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Conjunctivitis |
OMIM:602562 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Anterior beaking of lumbar vertebrae, Short neck, Scoliosis, Anterior beaking of... |
ORPHA:584 |
Juvenile Sialidosis Type 2 |
|
Corneal opacity, Cataract, Abnormal form of the vertebral bodies |
ORPHA:93399 |
Distal Monosomy 6P |
|
Vertebral segmentation defect, Corneal opacity, Abnormal anterior chamber morphology, Ectopia pup... |
ORPHA:96125 |
Hurler-Scheie Syndrome |
|
Kyphosis, Corneal opacity, Scoliosis |
OMIM:607015 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis, Astigmatism |
OMIM:619797 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Cataract, Astigmatism |
OMIM:615986 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Atopic Keratoconjunctivitis |
|
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca |
ORPHA:163934 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment |
ORPHA:1885 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea |
ORPHA:1806 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Cataract, Rapid neurologic deterioration |
ORPHA:585 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Fucosidosis |
|
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Progressive neurologic deterioration |
ORPHA:85317 |
Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
Trichothiodystrophy |
|
Defective DNA repair after ultraviolet radiation damage, Microcornea, Astigmatism, Thoracic kypho... |
ORPHA:33364 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes |
OMIM:301900 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Back pain, Opacification of the corneal stroma, Spina bifida occulta, Iris ... |
OMIM:169550 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Cognitive impairment, Short neck, Opacification of the corneal stroma, Ovoid vertebral ... |
ORPHA:583 |
Zellweger Syndrome |
|
Corneal opacity, Cognitive impairment, Posterior embryotoxon, Cataract, Brushfield spots |
ORPHA:912 |
Gm1 Gangliosidosis |
|
Kyphosis, Corneal opacity, Cognitive impairment, Platyspondyly, Scoliosis, Abnormal form of the v... |
ORPHA:354 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis |
OMIM:615145 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Hurler Syndrome |
|
Kyphosis, Corneal opacity, Short neck, Opacification of the corneal stroma, Biconcave vertebral b... |
OMIM:607014 |
Pseudohypoparathyroidism, Type Ic |
|
Cognitive impairment, Short neck, Cataract, Hypogonadism |
OMIM:612462 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Microphthalmia With Brain And Digit Anomalies |
|
Iris coloboma, Cataract, Microcornea, Sclerocornea |
ORPHA:139471 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Aniridia, Developmental glaucoma |
ORPHA:1064 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Opacification of the c... |
OMIM:253000 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
8Q21.11 Microdeletion Syndrome |
|
Corneal opacity, Short neck, Iris hypopigmentation, Cataract, Sclerocornea |
ORPHA:284160 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Mental deteri... |
OMIM:278800 |
Galactosemia I |
|
Hypergonadotropic hypogonadism, Cataract, Premature ovarian insufficiency |
OMIM:230400 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Mend Syndrome |
|
Kyphosis, Cataract |
OMIM:300960 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Mental deterioration, Cataract, Memory impairment, Hypogonadism |
ORPHA:79095 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aniridia |
ORPHA:250923 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Opacification of the corneal stroma |
OMIM:601356 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Hypoplastic vertebral bodies, Rapid neurologic deterioration |
OMIM:272200 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity |
OMIM:615084 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis |
OMIM:618291 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Srd5A3-Cdg |
|
Abnormal sacrum morphology, Kyphosis, Cataract |
ORPHA:324737 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Cataract |
ORPHA:309288 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Opacification of the corneal stroma, Scoliosis, Hyperlordosis, Ovoid ver... |
OMIM:253010 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617190 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis, Developmental cataract, Male hypogonadism, Conjunctivitis |
ORPHA:90322 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Oculoauricular Syndrome |
|
Microphakia, Posterior embryotoxon, Microcornea, Spina bifida occulta, Iris coloboma, Cataract, I... |
OMIM:612109 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA, Male i... |
OMIM:227650 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Lens subluxation, Ectopia pupillae, Platyspondyly, Scoliosis, Ovoid vertebral bo... |
ORPHA:85167 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Cataract, Developmental cataract |
ORPHA:93400 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Short neck, Scoliosis |
OMIM:611890 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Walker-Warburg Syndrome |
|
Corneal opacity, Cataract, Microcornea, Iris coloboma |
ORPHA:899 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Kyphoscoliosis |
OMIM:163200 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism |
ORPHA:352447 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hemivertebrae, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Popliteal pterygium |
ORPHA:1234 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
3Q29 Microduplication Syndrome |
|
Short neck, Iris coloboma, Cataract, Aniridia, Sclerocornea |
ORPHA:251038 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Cataract, Conjunctival hyperemia |
ORPHA:2399 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Cataract, Aniridia |
OMIM:612469 |
Trisomy 13 |
|
Kyphosis, Cognitive impairment, Scoliosis, Iris coloboma, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:3378 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Megalocornea, Developmental glaucoma |
ORPHA:2409 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Pterygium, Vertebral wedging |
OMIM:259450 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Sanjad-Sakati Syndrome |
|
Spinal canal stenosis, Corneal opacity, Astigmatism |
ORPHA:2323 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Lens subluxation, Scoliosis |
OMIM:609008 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA, Anteri... |
OMIM:227645 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Scoliosis, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal anterior chamber morphology, Megalocornea, Scoliosis, Astigmatism, Iridodonesi... |
ORPHA:2479 |
Stickler Syndrome, Type I |
|
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Platyspondyly, Scoliosis, Cataract, Mor... |
OMIM:108300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Butterfly vertebrae, Astigmatism |
OMIM:301056 |
Trisomy 9P |
|
Kyphosis, Abnormal pupil morphology, Short neck, Scoliosis, Sacral dimple |
ORPHA:236 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Lumbar hyperlordosis, Platyspondyly, Short neck, Ovoid vertebral bodies |
ORPHA:1830 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... |
OMIM:156530 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Cognitive impairment |
OMIM:614898 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:600901 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Hemivertebrae, Hypogonadotropic hypogonadism, Cataract, Vertebral hypoplasia... |
OMIM:206900 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... |
OMIM:106210 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Short neck, Spina bifida occulta, Hypogonadism |
ORPHA:2983 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Corneal opacity, Short neck, Scoliosis |
ORPHA:96061 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis |
OMIM:234250 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Corneal opacity, Kyphoscoliosis, Coronal cleft vertebrae, Megalocorn... |
ORPHA:536471 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Harrod Syndrome |
|
Kyphosis, Cataract, Scoliosis |
ORPHA:2115 |
Bruck Syndrome |
|
Pterygium, Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism |
ORPHA:2719 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:606612 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Short neck, Scoliosis, Spinal rigidity |
ORPHA:75840 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Incontinentia Pigmenti |
|
Keratitis, Corneal opacity, Cognitive impairment, Scoliosis, Spina bifida occulta, Cataract |
ORPHA:464 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Cognitive impairment, Scoliosis, Iris coloboma, Hypoplasia of the iris, Ectopia ... |
ORPHA:2092 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Kyphoscoliosis, C1-C2 subluxation, Vertebral compression fracture, Peripheral op... |
OMIM:259600 |
Mucopolysaccharidosis Type 1 |
|
Spinal canal stenosis, Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:579 |
Larsen Syndrome |
|
Beaking of vertebral bodies, Corneal opacity, Spondylolysis, Scoliosis, Spina bifida occulta, Cer... |
OMIM:150250 |
Hurler Syndrome |
|
Spinal canal stenosis, Corneal opacity, Short neck, Scoliosis, Abnormal vertebral morphology |
ORPHA:93473 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis |
OMIM:615834 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Lumbar hyperlordosis, Kyphoscoliosis, Ovoid vertebral bodies, Anterior wedging o... |
OMIM:253200 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck, Hypogonadism |
ORPHA:3409 |
Alstrom Syndrome |
|
Kyphosis, Subcapsular cataract, Hypergonadotropic hypogonadism, Irregular menstruation, Scoliosis |
OMIM:203800 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:178148 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Abnormality of the vertebral column, Opacification of the corneal stroma, Recurrent co... |
OMIM:308205 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Scoliosis |
ORPHA:352490 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Lens subluxation, Cataract |
OMIM:216820 |
Crisponi Syndrome |
|
Kyphosis, Scoliosis, Cognitive impairment |
ORPHA:1545 |
Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Scoliosis |
OMIM:112350 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:2617 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Cataract, Scoliosis |
ORPHA:88628 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Axenfeld anomaly, Short neck, Opacification of the corneal stroma, Posterior embryotoxon, Peters ... |
OMIM:612582 |
Mucolipidosis Iii Alpha/Beta |
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Hyperopic astigmatism, Opacification of the corneal stroma, Scoliosis |
OMIM:252600 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Kyphosis, Scoliosis |
ORPHA:1858 |
Mosaic Trisomy 9 |
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Hemivertebrae, Corneal opacity, Short neck, Scoliosis |
ORPHA:99776 |
Gomez-Lopez-Hernandez Syndrome |
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Opacification of the corneal stroma, Cognitive impairment |
OMIM:601853 |
Microphthalmia, Lenz Type |
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Kyphosis, Scoliosis, Microcornea, Hyperlordosis, Iris coloboma, Cataract |
ORPHA:568 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Kyphosis, Scoliosis |
ORPHA:99014 |
Rhizomelic Syndrome, Urbach Type |
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Kyphosis, Short neck, Abnormal form of the vertebral bodies, Cognitive impairment |
ORPHA:3098 |
Schaaf-Yang Syndrome |
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Kyphosis, Scoliosis, Hypogonadism |
OMIM:615547 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
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Kyphosis, Scoliosis |
ORPHA:3454 |
Schimke Immunoosseous Dysplasia |
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Lumbar hyperlordosis, Platyspondyly, Short neck, Opacification of the corneal stroma, Astigmatism... |
OMIM:242900 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Kyphosis, Scoliosis, Cognitive impairment |
ORPHA:1883 |
Tbck-Related Intellectual Disability Syndrome |
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Corneal opacity, Short neck, Scoliosis, Cognitive impairment |
ORPHA:488632 |
Desbuquois Dysplasia 1 |
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Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Developmental glaucoma |
OMIM:251450 |
Moebius Syndrome |
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Hypogonadotropic hypogonadism, Corneal opacity |
ORPHA:570 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Kyphosis, Hypogonadism |
OMIM:300354 |
Mucopolysaccharidosis Type 3 |
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Corneal opacity, Opacification of the corneal stroma, Abnormal form of the vertebral bodies, Scol... |
ORPHA:581 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Kyphosis, Scoliosis, Hypogonadism |
OMIM:615381 |
Zimmermann-Laband Syndrome 3 |
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Kyphosis |
OMIM:618658 |
Hemifacial Atrophy, Progressive |
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Kyphosis |
OMIM:141300 |
Norrie Disease |
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Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Scoliosis, Aplasia/Hypopl... |
ORPHA:649 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Kyphosis, Scoliosis |
OMIM:300861 |
Autosomal Recessive Spastic Paraplegia Type 53 |
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Kyphosis |
ORPHA:319199 |
Mcdonough Syndrome |
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Kyphosis, Scoliosis |
ORPHA:2471 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
Micro Syndrome |
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Kyphosis, Cataract, Microcornea, Scoliosis |
ORPHA:2510 |
Stromme Syndrome |
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Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea |
OMIM:243605 |
3Mc Syndrome 3 |
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Corneal opacity, Sacral dimple |
OMIM:248340 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
Chromosome 8Q21.11 Deletion Syndrome |
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Short neck, Cataract, Sclerocornea |
OMIM:614230 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Opacification of the corneal stroma, Cataract |
OMIM:211370 |
De Barsy Syndrome |
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Corneal opacity, Cataract, Kyphoscoliosis |
ORPHA:2962 |
Jaberi-Elahi Syndrome |
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Kyphosis, Cataract, Scoliosis |
OMIM:617988 |
Farber Disease |
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Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Fanconi Anemia, Complementation Group D2 |
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Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA |
OMIM:227646 |
Gorlin-Chaudhry-Moss Syndrome |
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Sclerocornea, Astigmatism |
ORPHA:2095 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
3M Syndrome |
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Kyphosis, Increased vertebral height, Short neck, Scoliosis, Hyperlordosis, Decreased fertility |
ORPHA:2616 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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Kyphosis, Myopic astigmatism, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis |
OMIM:618443 |
Werner Syndrome |
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Low back pain, Cataract, Hypogonadism |
OMIM:277700 |
Myopathic Ehlers-Danlos Syndrome |
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Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Opacification of the corneal stroma |
OMIM:215250 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Irregular vertebral endplates, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Catara... |
ORPHA:3042 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Kyphosis, Corneal opacity, Scoliosis, Astigmatism, Abnormality of the cervical spine |
ORPHA:464311 |
Osteogenesis Imperfecta, Type Ix |
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Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Ciliary Dyskinesia, Primary, 1 |
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Abnormal cornea morphology, Male infertility |
OMIM:244400 |
Zimmermann-Laband Syndrome 2 |
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Kyphosis, Short neck |
OMIM:616455 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
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Kyphosis |
OMIM:248760 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract |
OMIM:236670 |
Myopathy, Centronuclear, 2 |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Peters anomaly, Iris coloboma, Cataract, Sclerocornea |
OMIM:309801 |
Widow'S Peak Syndrome |
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Kyphosis |
OMIM:314570 |
Axenfeld-Rieger Syndrome, Type 2 |
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Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
Tangier Disease |
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Opacification of the corneal stroma |
OMIM:205400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... |
ORPHA:93314 |
Cataract 5, Multiple Types |
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Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Cowden Syndrome 5 |
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Kyphosis, Cataract, Scoliosis |
OMIM:615108 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Kyphosis, Corneal opacity, Scoliosis, Astigmatism, Abnormality of the cervical spine |
ORPHA:464306 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Kyphosis, Scoliosis |
ORPHA:464282 |
Galactosialidosis |
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Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Brachymesomelia-Renal Syndrome |
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Opacification of the corneal stroma |
OMIM:113470 |
Fryns Syndrome |
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Corneal opacity, Short neck |
ORPHA:2059 |
Diastrophic Dysplasia |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae |
ORPHA:628 |
Thanatophoric Dysplasia Type 2 |
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Kyphosis, Platyspondyly, Cognitive impairment |
ORPHA:93274 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis |
ORPHA:2522 |
Carpenter Syndrome 1 |
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Short neck, Opacification of the corneal stroma, Microcornea, Scoliosis, Spina bifida occulta, Sa... |
OMIM:201000 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:238750 |
Alpha-Mannosidosis, Infantile Form |
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Corneal opacity, Platyspondyly, Short neck, Astigmatism, Cataract |
ORPHA:309282 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Mental deterioration, Kyphosis, Secondary amenorrhea |
OMIM:610489 |
Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract |
OMIM:158310 |
Progeroid Short Stature With Pigmented Nevi |
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Chordee, Thoracic scoliosis, Allergic conjunctivitis, Cataract, Premature ovarian insufficiency |
OMIM:176690 |
Koolen-De Vries Syndrome |
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Vertebral segmentation defect, Kyphosis, Scoliosis, Cataract, Vertebral fusion |
ORPHA:96169 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:614866 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Opacification of the corneal stroma, Cataract, Brushfield spots |
OMIM:214110 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Iris coloboma |
ORPHA:2789 |
Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Cataract |
OMIM:251290 |
Cowden Syndrome 6 |
|
Kyphosis, Cataract, Scoliosis |
OMIM:615109 |
Neurofibromatosis Type 1 |
|
Kyphosis, Corneal opacity, Scoliosis, Memory impairment, Lisch nodules, Cataract, Heterochromia i... |
ORPHA:636 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Short neck, Scoliosis, Iris coloboma |
ORPHA:7 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Keratitis, Kyphosis, Corneal opacity, Mental deterioration, Platyspondyly, Abnormality of the ver... |
ORPHA:2273 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Scoliosis |
OMIM:300280 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Thanatophoric Dysplasia |
|
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology |
ORPHA:2655 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Platyspondyly, Scoliosis, Cata... |
ORPHA:534 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:3191 |
Smith-Mccort Dysplasia 1 |
|
Kyphosis, Beaking of vertebral bodies, Atlantoaxial instability, Platyspondyly, Scoliosis, Hypopl... |
OMIM:607326 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Kyphosis, Scoliosis, Astigmatism |
OMIM:618493 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Fabry Disease |
|
Corneal opacity, Cognitive impairment, Conjunctival telangiectasia, Cataract, Corneal dystrophy |
ORPHA:324 |
Atypical Rett Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3095 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Cognitive impairment |
OMIM:617143 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Scoliosis |
OMIM:300431 |
Xeroderma Pigmentosum |
|
Keratitis, Cognitive impairment, Conjunctival telangiectasia, Opacification of the corneal stroma... |
ORPHA:910 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bo... |
ORPHA:2311 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Prader-Willi Syndrome |
|
Kyphosis, Infertility, Hypogonadotropic hypogonadism, Oligomenorrhea, Scoliosis, Primary amenorrh... |
OMIM:176270 |
Lathosterolosis |
|
Opacification of the corneal stroma, Cataract, Microcornea, Abnormal thoracic spine morphology |
ORPHA:46059 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short neck, Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia, Corneal opacity, Scoliosis, Thoracolumbar kyphosis |
ORPHA:2072 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... |
ORPHA:94068 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Platyspondyly, Cataract, Absent anterior chamber of the eye, Iris atrophy |
OMIM:259770 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:607155 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... |
OMIM:183900 |
Becker Nevus Syndrome |
|
Kyphosis, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Distal Tetrasomy 15Q |
|
Kyphosis, Scoliosis, Corneal dystrophy |
ORPHA:314588 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Megalocornea, Abnormality of the vertebral column, Scoliosis, Abnormal form of the vert... |
ORPHA:280 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Ectopia pupillae, Hemivertebrae, Short neck, Scoliosis |
OMIM:618223 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
ORPHA:98863 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Infertility, Lumbar hyperlordosis, Impotence, Streak ovary, Hypergonadotropic hypogonad... |
ORPHA:2232 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity, Scoliosis |
OMIM:615273 |
Coffin-Lowry Syndrome |
|
Kyphosis, Cataract, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:192 |
Cowden Syndrome 1 |
|
Kyphosis, Cataract, Scoliosis |
OMIM:158350 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
ORPHA:171436 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Astigmatism |
ORPHA:261250 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Cognitive impairment, Mental deterioration, Progressive neurologic deterioration... |
ORPHA:580 |
Limb Body Wall Complex |
|
Corneal opacity, Lens subluxation, Abnormality of the vertebral column, Spina bifida occulta, Pro... |
ORPHA:2369 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis |
ORPHA:98855 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Buphthalmos, Short neck, Corneal dystrophy, Keratoconjunctivitis sicca |
ORPHA:495875 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Lumbar hyperlordosis, Platyspondyly |
OMIM:616482 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Spinal canal stenosis, Corneal opacity, Cognitive impairment, Mental deterioration, Abnormal vert... |
ORPHA:217085 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Kyphosis, Platyspondyly |
OMIM:618476 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Megalocornea |
ORPHA:137675 |
Oculoectodermal Syndrome |
|
Short neck, Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism |
OMIM:600268 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Spinal canal stenosis, Corneal opacity, Cognitive impairment, Mental deterioration, Abnormal vert... |
ORPHA:217093 |
Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Scoliosis, Iris hypopigmentation, Cataract, Vertebral fusion, Sacral... |
OMIM:610443 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Infertility, Cognitive impairment, Primary amenorrhea, Scoliosis, Hypogonadism |
|