Not currently registered for phenotyping at IMPC

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

Gene Summary

CDC14 cell division cycle 14B
2810432N10Rik,  A530086E13Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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