Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CDC14 cell division cycle 14B
Synonyms:
2810432N10Rik,  A530086E13Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cdc14b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdc14b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity ORPHA:351
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Memory impairment, Secondary amenorrhea, Cataract OMIM:620312
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Cataract OMIM:278780
Dermoids Of Cornea
Corneal opacity OMIM:304730
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract ORPHA:2815
X-Linked Retinoschisis
Cataract ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Nathalie Syndrome
Cataract ORPHA:2663
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract ORPHA:2278
Cataract 42
Cataract, Developmental cataract OMIM:115900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Xp22.3 Microdeletion Syndrome
Decreased fertility, Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Secondar... ORPHA:1643
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Cataract OMIM:240950
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis, Cognitive impairment, Corneal opacity ORPHA:577
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Spondylolisthesis, Keratoglobus, Scoliosis, Decreased co... OMIM:229200
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Astigmatism, Dementia, Defective DNA r... OMIM:278760
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Trichomegaly
Cataract OMIM:190330
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Corneal opacity ORPHA:2370
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity ORPHA:1532
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis ORPHA:85288
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cataract, Kyphosis ORPHA:1875
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea ORPHA:2528
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Spastic Paraplegia 46, Autosomal Recessive
Mental deterioration, Cataract, Dementia, Infertility, Scoliosis, Kyphosis OMIM:614409
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis, Cognitive impairment ORPHA:2744
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Short neck, Abnormal vertebral segmentation and f... OMIM:244600
Mucolipidosis Iv
Progressive neurologic deterioration, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Galactosemia Ii
Cataract OMIM:230200
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Decreased fertility, Hypergonadotropic hypogonadism, Primary amenorrhea ORPHA:2410
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Scoliosi... ORPHA:48431
Galactosemia Iv
Cataract OMIM:618881
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Infertility, Cognitive impairment, Abnormal sperm head morphology, Reduced sperm motili... ORPHA:320391
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis OMIM:618392
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Scoliosis, Cataract ORPHA:101006
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Kahrizi Syndrome
Cataract, Iris coloboma, Thoracic kyphosis OMIM:612713
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage, Mental deterioration, Cataract, Keratiti... OMIM:278730
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Kyphosis, Hyperlordosis, Secondary amenorrhea, Hypergonadotropic hypogonadism ORPHA:3085
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Thoracic platyspondyly, Increased intervertebral space, Beaking of vertebra... OMIM:618961
Nathalie Syndrome
Cataract OMIM:255990
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Alpha-Mannosidosis
Cataract, Short neck, Corneal opacity, Scoliosis, Kyphosis ORPHA:61
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Spinal canal stenosis, Corneal opacity ORPHA:93476
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Sialidosis Type 2
Kyphosis, Corneal opacity ORPHA:87876
Harel-Yoon Syndrome
Scoliosis, Developmental cataract, Corneal opacity OMIM:617183
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Cataract OMIM:619420
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency, Corneal... OMIM:610965
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Atlantoaxial abnormality, Kyphoscoliosis ORPHA:3433
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Scoliosis, Kyphosis, Keratoglobus OMIM:108145
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Flynn-Aird Syndrome
Dementia, Cataract, Kyphoscoliosis OMIM:136300
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Senior-Loken Syndrome
Premature ovarian insufficiency, Cataract ORPHA:3156
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Cataract, Hypoplasia of the odontoid process, Irregularity of vertebral bodies ORPHA:85172
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Attention deficit hyperactivity disorder,... OMIM:152950
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Anterior beaking of lumbar vertebrae, Opacification of the corneal stroma, Scolios... OMIM:230650
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Brittle Cornea Syndrome
Corneal scarring, Decreased corneal thickness, Scoliosis, Corneal dystrophy, Corneal erosion, Ker... ORPHA:90354
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Cataract, Abnormality of the vertebral column OMIM:302950
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Hypomelanosis Of Ito
Iris coloboma, Scoliosis, Kyphosis, Cataract OMIM:300337
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Sialidosis Type 1
Cataract, Abnormal form of the vertebral bodies, Corneal opacity, Scoliosis, Kyphosis ORPHA:812
Cataract 47
Cataract, Microcornea OMIM:612018
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Thoracic kyphosis OMIM:270200
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Decreased corneal thickness, Primary amenorrhea ORPHA:293967
Retinitis Pigmentosa 40
Cataract OMIM:613801
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Cognitive impairment, Corneal op... ORPHA:582
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Cervical spinal canal stenosis, Spinal canal stenosis, Developmental cataract, Thoracic... ORPHA:436174
Metatropic Dysplasia
Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal interve... ORPHA:2635
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Scoliosis, Corneal opacity ORPHA:496790
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Microtriplication 11Q24.1
Keratoconus, Short neck, Scoliosis ORPHA:289522
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Sengers Syndrome
Mental deterioration, Developmental cataract, Premature ovarian insufficiency, Cataract OMIM:212350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Linear Verrucous Nevus Syndrome
Mental deterioration, Cataract, Abnormal cornea morphology, Scoliosis, Iris coloboma ORPHA:2611
Xeroderma Pigmentosum, Complementation Group A
Conjunctivitis, Mental deterioration, Keratitis, Defective DNA repair after ultraviolet radiation... OMIM:278700
Baralle-Macken Syndrome
Cataract, Kyphosis OMIM:619255
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract OMIM:601794
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Corneal erosion ORPHA:816
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Keratitis OMIM:278740
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cataract ORPHA:363741
Galactokinase Deficiency
Cataract, Nuclear cataract, Premature ovarian insufficiency, Psychomotor deterioration, Hypergona... ORPHA:79237
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Intellectual Developmental Disorder, Autosomal Dominant 23
Astigmatism, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple OMIM:615761
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Classic Galactosemia
Mental deterioration, Cataract, Attention deficit hyperactivity disorder, Decreased fertility in ... ORPHA:79239
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Cataract, Abnormal intervertebral disk morphology ORPHA:1345
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Corneal opacity, Cervical sublu... OMIM:253010
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Sandhoff Disease
Kyphosis, Motor deterioration, Progressive psychomotor deterioration ORPHA:796
Autosomal Recessive Stickler Syndrome
Platyspondyly, Cataract, Astigmatism, Irregular vertebral endplates ORPHA:250984
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Scoliosis, Kyphosis, Cataract ORPHA:79107
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Opacification of the corneal... OMIM:184095
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Flynn-Aird Syndrome
Dementia, Cataract, Scoliosis, Kyphosis ORPHA:2047
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Hemochromatosis, Type 4
Cataract, Impotence OMIM:606069
Congenital Varicella Syndrome
Cataract ORPHA:291
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Alpha-Mannosidosis, Adult Form
Confusion, Corneal opacity, Cataract ORPHA:309288
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Scoliosis, Cataract ORPHA:64754
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Scheie Syndrome
Short neck, Spondylolisthesis, Corneal opacity OMIM:607016
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Marinesco-Sjogren Syndrome
Developmental cataract, Scoliosis, Kyphosis, Hypergonadotropic hypogonadism OMIM:248800
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Keratitis OMIM:278720
Mucolipidosis Type Iii Alpha/Beta
Short neck, Corneal opacity, Cognitive impairment, Kyphoscoliosis ORPHA:423461
Cataract 48
Cataract OMIM:618415
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Fish-Eye Disease
Corneal opacity ORPHA:79292
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Scoliosis ORPHA:171844
Joubert Syndrome 9
Cataract, Scoliosis, Astigmatism OMIM:612285
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Astigmatism, Scoliosis, Kyphosis OMIM:619797
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Kyphosis OMIM:618124
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Corneal opacity, Anterior beaking of lu... ORPHA:584
Wilson Disease
Abnormality of the menstrual cycle, Back pain, Kayser-Fleischer ring ORPHA:905
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Corneal opacity OMIM:607015
Juvenile Sialidosis Type 2
Cataract, Abnormal form of the vertebral bodies, Corneal opacity ORPHA:93399
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Distal Deletion 6P
Ectopia pupillae, Hypoplasia of the iris, Vertebral segmentation defect, Anterior synechiae of th... ORPHA:96125
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis, Corneal opacity ORPHA:349
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Spina bifida occulta, Opacification of the corneal stroma, Iris coloboma, B... OMIM:169550
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Corneal opacity ORPHA:585
Pseudopseudohypoparathyroidism
Cataract, Short neck, Cognitive impairment OMIM:612463
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Attention deficit hyperactivity disorder, Kyphosis OMIM:620007
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Astigmatism OMIM:615986
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Proximal Myotonic Myopathy
Cataract ORPHA:606
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Dementia, Premature ovarian insufficiency, Cataract, Hypogonadism OMIM:609286
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract, Os odontoideum OMIM:616603
Gapo Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Hypogonadism, Dysmenorrhea, Amenorrhea, Oligo... ORPHA:2067
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Mucolipidosis Iii Gamma
Short neck, Hyperlordosis, Opacification of the corneal stroma, Scoliosis, Kyphosis OMIM:252605
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... OMIM:253000
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lumbar hyperlordosis, Lester's sign, Antecubital pterygium, M... OMIM:161200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Microcornea, Astigmatism, Keratoconjunct... ORPHA:33364
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Opacification of the corneal stroma OMIM:601356
Zellweger Syndrome
Cataract, Posterior embryotoxon, Cognitive impairment, Corneal opacity, Brushfield spots ORPHA:912
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Classic Phenylketonuria
Mental deterioration, Cataract, Memory impairment, Attention deficit hyperactivity disorder, Moto... ORPHA:79254
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Short neck, Corneal opacity, Sclerocornea ORPHA:284160
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Rapid neurologic deterioration, Corneal opacity OMIM:272200
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Ruijs-Aalfs Syndrome
Hypogonadism, Cataract, Thoracic kyphoscoliosis, Posterior subcapsular cataract OMIM:616200
Monilethrix
Cataract, Cognitive impairment ORPHA:573
Gm1 Gangliosidosis
Platyspondyly, Abnormal form of the vertebral bodies, Hyperlordosis, Cognitive impairment, Cornea... ORPHA:354
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Co... OMIM:607014
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Mucopolysaccharidosis Type 6
Short neck, Cognitive impairment, Opacification of the corneal stroma, Kyphosis, Ovoid vertebral ... ORPHA:583
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
De Sanctis-Cacchione Syndrome
Conjunctivitis, Mental deterioration, Keratitis, Defective DNA repair after ultraviolet radiation... OMIM:278800
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Alagille Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Abnormal pupil morphology, Vertebral segmenta... ORPHA:52
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Lcat Deficiency
Corneal opacity ORPHA:650
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Mental deterioration, Memory impairment, Cataract ORPHA:79095
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Srd5A3-Cdg
Cataract, Abnormal sacrum morphology, Kyphosis ORPHA:324737
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Scoliosis, Kyphosis ORPHA:85317
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract OMIM:230400
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Aniridia 3
Cataract, Aniridia OMIM:617142
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Retinitis Pigmentosa
Hypogonadism, Keratoconus, Posterior subcapsular cataract ORPHA:791
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Greig Cephalopolysyndactyly Syndrome
Keratoconus OMIM:175700
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:227650
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Ectopia pupillae, Corneal opacity, Lens subluxation, Scoliosis, Ovoid vertebral bo... ORPHA:85167
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Cockayne Syndrome Type 2
Male hypogonadism, Developmental cataract, Conjunctivitis, Scoliosis, Kyphosis ORPHA:90322
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Cataract, Short neck, Cognitive impairment OMIM:612462
Marfanoid Habitus With Situs Inversus
Lens subluxation, Scoliosis, Kyphosis OMIM:609008
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
3Q29 Microduplication Syndrome
Cataract, Aniridia, Short neck, Sclerocornea, Iris coloboma ORPHA:251038
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Ectopia pupillae, Severe platyspondyly, Corneal opacity, Lens subluxation, Scolios... OMIM:608940
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Sclerocornea, Iris coloboma, Hemivertebrae ORPHA:77298
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Wagro Syndrome
Cataract, Aniridia, Corneal opacity OMIM:612469
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Kyphoscoliosis OMIM:163200
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Delayed menarche, Astigmatism, Scoliosis ORPHA:72
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Scoliosis, Corneal erosion ORPHA:1764
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Astigmatism, Corneal opacity OMIM:301056
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Cataract, Short neck, Cognitive impairment OMIM:103580
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Scheie Syndrome
Corneal opacity ORPHA:93474
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal b... OMIM:227645
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Sanjad-Sakati Syndrome
Spinal canal stenosis, Astigmatism, Corneal opacity ORPHA:2323
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Short neck, Corneal opacity, Ovoid vertebral bodies ORPHA:1830
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Stickler Syndrome, Type I
Platyspondyly, Cataract, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scol... OMIM:108300
Trisomy 13
Cataract, Aplasia/Hypoplasia of the iris, Cognitive impairment, Scoliosis, Iris coloboma, Kyphosis ORPHA:3378
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Scoliosis, Kyphosis OMIM:611890
Trisomy 9P
Abnormal pupil morphology, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... OMIM:600901
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Cystinosis
Corneal opacity ORPHA:213
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Dystonia-Deafness Syndrome 1
Cataract, Kyphoscoliosis OMIM:607371
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Bruck Syndrome 1
Platyspondyly, Vertebral wedging, Pterygium, Scoliosis, Kyphosis OMIM:259450
Mosaic Trisomy 8
Short neck, Scoliosis, Corneal opacity, Vertebral segmentation defect ORPHA:96061
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Cognitive impairment OMIM:614898
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Platyspondyly, Iris coloboma, Posterior subcapsular cataract, Cong... ORPHA:536471
Microphthalmia, Syndromic 3
Cataract, Butterfly vertebrae, Hypogonadotropic hypogonadism, Hemivertebrae, Sclerocornea, Verteb... OMIM:206900
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Incontinentia Pigmenti
Cataract, Keratitis, Attention deficit hyperactivity disorder, Cognitive impairment, Corneal opac... ORPHA:464
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Harrod Syndrome
Cataract, Scoliosis, Kyphosis ORPHA:2115
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Scoliosis, Kyphosis ORPHA:352490
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis, Pterygium ORPHA:2771
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Kyphoscoliosis, C1-C2 subluxation, Corneal opacity, Verte... OMIM:259600
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Mucopolysaccharidosis Type 1
Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies, Spinal canal stenosis ORPHA:579
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Attention deficit hy... ORPHA:649
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity ORPHA:2719
Usher Syndrome
Astigmatism, Cataract, Decreased fertility, Cognitive impairment ORPHA:886
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Costello Syndrome
Keratoconus, Short neck ORPHA:3071
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Spondylolisthesis, Opacification of the corneal stroma, Scoliosis, Kyphosis OMIM:252600
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Microphthalmia, Lenz Type
Cataract, Microcornea, Hyperlordosis, Scoliosis, Iris coloboma, Kyphosis ORPHA:568
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Focal Dermal Hypoplasia
Ectopia lentis, Hypoplasia of the iris, Cognitive impairment, Corneal opacity, Scoliosis, Iris co... ORPHA:2092
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Cognitive impairment OMIM:601853
Hurler Syndrome
Abnormal vertebral morphology, Spinal canal stenosis, Short neck, Corneal opacity, Scoliosis ORPHA:93473
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Short neck, Posterior embryotoxon, Ocular anterior segment dysg... OMIM:612582
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Down Syndrome
Atlantoaxial dislocation, Keratoconus, Cataract, Decreased fertility, Short neck ORPHA:870
Mucopolysaccharidosis, Type Vi
Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlordosis, Anterior wedgin... OMIM:253200
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Deficient excision of UV-induced pyrimidine dimers in D... OMIM:227646
Transketolase Deficiency
Conjunctivitis, Cataract, Attention deficit hyperactivity disorder, Secondary amenorrhea ORPHA:488618
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Beaking of vertebral bodies, Ve... OMIM:150250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Scoliosis, Kyphosis ORPHA:88628
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Abnormality of the cervical spine, Attention deficit hyperactivity disorder, Corneal... ORPHA:464311
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Moebius Syndrome
Hypogonadotropic hypogonadism, Corneal opacity ORPHA:570
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Mosaic Trisomy 9
Short neck, Scoliosis, Hemivertebrae, Corneal opacity ORPHA:99776
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
De Barsy Syndrome
Cataract, Corneal opacity, Kyphoscoliosis ORPHA:2962
Micro Syndrome
Cataract, Microcornea, Scoliosis, Kyphosis ORPHA:2510
Tbck-Related Intellectual Disability Syndrome
Short neck, Scoliosis, Cognitive impairment, Corneal opacity ORPHA:488632
3Mc Syndrome 3
Sacral dimple, Corneal opacity OMIM:248340
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Cataract, Confusion, Short attention span, Astigmatism, Short neck, Corneal opacity ORPHA:309282
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Schimke Immunoosseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Astigmatism, Short neck, Opacification of the corneal stroma... OMIM:242900
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Werner Syndrome
Low back pain, Cataract, Hypogonadism OMIM:277700
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Mucopolysaccharidosis Type 3
Cataract, Abnormal form of the vertebral bodies, Dementia, Corneal opacity, Progressive neurologi... ORPHA:581
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Short neck, Kyphosis, Cognitive impairment ORPHA:3098
Urban-Rogers-Meyer Syndrome
Hypogonadism, Short neck, Kyphosis ORPHA:3409
Alport Syndrome 2, Autosomal Recessive
Cataract, Anterior lenticonus, Corneal erosion OMIM:203780
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Male infertility OMIM:244400
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Developmental glaucoma OMIM:251450
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Short neck OMIM:614230
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Chordee, Sclerocornea, Iris coloboma OMIM:309801
Schaaf-Yang Syndrome
Hypogonadism, Scoliosis, Kyphosis OMIM:615547
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Myopic astigmatism, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis OMIM:618443
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Scoliosis, Kyphosis OMIM:616449
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Crisponi Syndrome
Kyphosis, Scoliosis, Cognitive impairment ORPHA:1545
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Abnormal form of the vertebral bodies, Hypogonadism, Posterior scalloping of vertebral ... ORPHA:3042
Jaberi-Elahi Syndrome
Cataract, Scoliosis, Kyphosis OMIM:617988
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Scoliosis, Corneal opacity OMIM:601812
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Arterial Tortuosity Syndrome
Keratoconus, Scoliosis, Astigmatism OMIM:208050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Kyphosis OMIM:300354
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Scoliosis, Megalocornea OMIM:230740
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl... ORPHA:263479
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis, Cognitive impairment ORPHA:1883
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Chromosome 3Q13.31 Deletion Syndrome
Attention deficit hyperactivity disorder, Kyphosis OMIM:615433
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Cowden Syndrome 5
Cataract, Scoliosis, Kyphosis OMIM:615108
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Scoliosis, Kyphosis OMIM:615381
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Cataract, Biconcave vertebral bodies, Kyphoscoliosis, Iris atrophy, Severe platysp... OMIM:259770
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Abnormality of the cervical spine, Corneal opacity, Scoliosis, Kyphosis ORPHA:464306
Fryns Syndrome
Short neck, Corneal opacity ORPHA:2059
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
3M Syndrome
Increased vertebral height, Decreased fertility, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:536516
Progeroid Short Stature With Pigmented Nevi
Cataract, Allergic conjunctivitis, Thoracic scoliosis, Chordee, Premature ovarian insufficiency OMIM:176690
Ocular Cystinosis
Corneal crystals ORPHA:411641
Carpenter Syndrome 1
Microcornea, Short neck, Spina bifida occulta, Opacification of the corneal stroma, Scoliosis, Sa... OMIM:201000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Keratoconus, Microcornea, Platyspondyly, Kyphoscoliosis OMIM:225400
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Cataract, Lentiglobus, Azoospermia, Abnormal pupil morphology, Attention deficit h... ORPHA:534
Lateral Meningocele Syndrome
Iris coloboma, Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2789
Fabry Disease
Cataract, Conjunctival telangiectasia, Cognitive impairment, Corneal opacity, Cornea verticillata... ORPHA:324
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Emanuel Syndrome
Astigmatism, Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Cowden Syndrome 6
Cataract, Scoliosis, Kyphosis OMIM:615109
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Koolen-De Vries Syndrome
Cataract, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis ORPHA:96169
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Attention deficit hyperactivity disorder, Keratoconjunctivitis sicca, Short neck, Corneal opacity... ORPHA:495875
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis ORPHA:464282
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Astigmatism, Scoliosis, Kyphosis OMIM:618493
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Arterial Tortuosity Syndrome
Keratoconus, Scoliosis, Keratoglobus ORPHA:3342
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Mental deterioration, Abnormal vertebral morphology, Keratitis, Abnormality of the... ORPHA:2273
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis, Cognitive impairment ORPHA:93274
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, Cataract OMIM:158310
Diastrophic Dysplasia