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, Corneal opacity, Abnormality of the vertebral column ORPHA:351
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Cataract OMIM:278780
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Morquio Syndrome C
Corneal opacity, Platyspondyly OMIM:252300
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Hypogonadism ORPHA:1875
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Secondary amenorrhea, Sacral ... ORPHA:1643
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism OMIM:240950
Nathalie Syndrome
Cataract ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Astigmatism, Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA ... OMIM:278760
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Bardet-Biedl Syndrome 18
Cataract, Cognitive impairment OMIM:615995
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2370
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Trichomegaly
Cataract OMIM:190330
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract ORPHA:85288
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Mental deterioration, Scoliosis, Cataract, Dementia OMIM:614409
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis, Cognitive impairment ORPHA:2744
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment ORPHA:1532
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism ORPHA:2528
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Cataract OMIM:212540
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract OMIM:619420
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Opacification of the corneal strom... OMIM:230650
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Microcornea, Cataract, Abnormality of the cer... ORPHA:48431
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Scoliosis, Hypogonadism OMIM:268050
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Galactosemia Ii
Cataract OMIM:230200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Decreased fertility ORPHA:2410
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Cognitive impairment, Scoliosis, Cataract, Abnormal sperm he... ORPHA:320391
Kahrizi Syndrome
Thoracic kyphosis, Iris coloboma, Cataract OMIM:612713
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Intellectual Disability-Cataracts-Kyphosis Syndrome
Thoracic kyphosis, Iris coloboma, Cataract ORPHA:171860
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Cataract, Scoliosis ORPHA:101006
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Corneal neovascularization, Mental deterioration, Defective DNA repair after ultraviol... OMIM:278730
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Hyperlordosis, Secondary amenorrhea, Cataract ORPHA:3085
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Corneal opacity, Increased intervertebral space, Lumbar platyspondyl... OMIM:618961
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Alpha-Mannosidosis
Kyphosis, Corneal opacity, Short neck, Scoliosis, Cataract ORPHA:61
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Scheie Syndrome
Corneal opacity, Short neck, Spondylolisthesis OMIM:607016
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Hypogonadism ORPHA:281090
Nathalie Syndrome
Cataract OMIM:255990
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Hurler-Scheie Syndrome
Spinal canal stenosis, Corneal opacity, Abnormal vertebral morphology ORPHA:93476
Flynn-Aird Syndrome
Kyphoscoliosis, Cataract, Dementia OMIM:136300
Harel-Yoon Syndrome
Corneal opacity, Scoliosis, Developmental cataract OMIM:617183
Sialidosis Type 2
Kyphosis, Corneal opacity ORPHA:87876
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Cataract, Hypogonadism OMIM:302950
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Cataract, Hypoplasia of the odontoid process ORPHA:85172
Xfe Progeroid Syndrome
Corneal scarring, Defective DNA repair after ultraviolet radiation damage, Scoliosis, Premature o... OMIM:610965
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... OMIM:271530
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency ORPHA:3156
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Cataract 11, Multiple Types
Cataract OMIM:610623
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Sialidosis Type 1
Kyphosis, Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies, Cataract ORPHA:812
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Hypomelanosis Of Ito
Kyphosis, Iris coloboma, Cataract, Scoliosis OMIM:300337
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Thoracic kyphosis, Astigmatism OMIM:270200
Metatropic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cataract, Abnormal intervertebral dis... ORPHA:2635
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Mental deteri... OMIM:278700
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Opacification of the corneal stroma, Scoliosis, Hyperlordosis OMIM:252605
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Corneal opacity, Cognitive impairment, Platyspondyly, Short neck... ORPHA:582
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Thoracic kyphoscoliosis, Catara... ORPHA:436174
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cataract 47
Cataract, Microcornea OMIM:612018
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract OMIM:152950
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness OMIM:614170
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Sandhoff Disease
Kyphosis, Motor deterioration, Progressive psychomotor deterioration ORPHA:796
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Mental deterioration, Scoliosis, Iris coloboma, Cataract ORPHA:2611
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Cataract, Scoliosis ORPHA:496790
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Baralle-Macken Syndrome
Kyphosis, Cataract OMIM:619255
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hypogonadism OMIM:601794
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis OMIM:278740
Gorlin Syndrome
Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Scoliosis, Iris coloboma, Catarac... ORPHA:377
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism ORPHA:363741
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Kyphosis, Cataract, Scoliosis ORPHA:79107
Galactokinase Deficiency
Nuclear cataract, Hypergonadotropic hypogonadism, Psychomotor deterioration, Cataract, Premature ... ORPHA:79237
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Cataract, Abnormal intervertebral disk morphology ORPHA:1345
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Corneal erosion ORPHA:816
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Astigmatism, Sacral dimple OMIM:615761
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis, Premature ovarian insufficiency OMIM:618124
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hemochromatosis, Type 4
Impotence, Cataract OMIM:606069
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Flynn-Aird Syndrome
Kyphosis, Cataract, Scoliosis, Dementia ORPHA:2047
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis OMIM:278720
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Cataract, Microcornea, Scoliosis OMIM:616449
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Cataract, Scoliosis ORPHA:64754
Classic Galactosemia
Mental deterioration, Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Seconda... ORPHA:79239
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Scoliosis, Developmental cataract OMIM:248800
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Retinitis Pigmentosa 84
Cataract OMIM:618220
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract, Scoliosis ORPHA:171844
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Mucopolysaccharidosis, Type Vii
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoli... OMIM:253220
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Pellagra-Like Syndrome
Cataract OMIM:260650
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Spondylolisthesis, Scoliosis, Keratoconus, Keratoglobus, Decreased co... OMIM:229200
Wilson Disease
Abnormality of the menstrual cycle, Back pain, Kayser-Fleischer ring ORPHA:905
Pseudopseudohypoparathyroidism
Short neck, Cataract, Cognitive impairment OMIM:612463
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Joubert Syndrome 9
Cataract, Scoliosis, Astigmatism OMIM:612285
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... OMIM:609813
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Fish-Eye Disease
Corneal opacity ORPHA:79292
Mucopolysaccharidosis Type 7
Corneal opacity, Anterior beaking of lumbar vertebrae, Short neck, Scoliosis, Anterior beaking of... ORPHA:584
Juvenile Sialidosis Type 2
Corneal opacity, Cataract, Abnormal form of the vertebral bodies ORPHA:93399
Distal Monosomy 6P
Vertebral segmentation defect, Corneal opacity, Abnormal anterior chamber morphology, Ectopia pup... ORPHA:96125
Hurler-Scheie Syndrome
Kyphosis, Corneal opacity, Scoliosis OMIM:607015
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Astigmatism OMIM:619797
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Astigmatism OMIM:615986
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment ORPHA:1885
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Rapid neurologic deterioration ORPHA:585
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Fucosidosis
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae ORPHA:349
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Progressive neurologic deterioration ORPHA:85317
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Microcornea, Astigmatism, Thoracic kypho... ORPHA:33364
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes OMIM:301900
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Back pain, Opacification of the corneal stroma, Spina bifida occulta, Iris ... OMIM:169550
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Mucopolysaccharidosis Type 6
Kyphosis, Cognitive impairment, Short neck, Opacification of the corneal stroma, Ovoid vertebral ... ORPHA:583
Zellweger Syndrome
Corneal opacity, Cognitive impairment, Posterior embryotoxon, Cataract, Brushfield spots ORPHA:912
Gm1 Gangliosidosis
Kyphosis, Corneal opacity, Cognitive impairment, Platyspondyly, Scoliosis, Abnormal form of the v... ORPHA:354
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Hurler Syndrome
Kyphosis, Corneal opacity, Short neck, Opacification of the corneal stroma, Biconcave vertebral b... OMIM:607014
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Short neck, Cataract, Hypogonadism OMIM:612462
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Mucopolysaccharidosis, Type Iva
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Opacification of the c... OMIM:253000
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
8Q21.11 Microdeletion Syndrome
Corneal opacity, Short neck, Iris hypopigmentation, Cataract, Sclerocornea ORPHA:284160
De Sanctis-Cacchione Syndrome
Keratitis, Defective DNA repair after ultraviolet radiation damage, Conjunctivitis, Mental deteri... OMIM:278800
Galactosemia I
Hypergonadotropic hypogonadism, Cataract, Premature ovarian insufficiency OMIM:230400
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Mend Syndrome
Kyphosis, Cataract OMIM:300960
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Cataract, Memory impairment, Hypogonadism ORPHA:79095
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Opacification of the corneal stroma OMIM:601356
Multiple Sulfatase Deficiency
Corneal opacity, Hypoplastic vertebral bodies, Rapid neurologic deterioration OMIM:272200
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Kyphosis, Spinal rigidity OMIM:615084
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis OMIM:618291
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis, Cataract ORPHA:324737
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract ORPHA:309288
Mucopolysaccharidosis, Type Ivb
Kyphosis, Platyspondyly, Opacification of the corneal stroma, Scoliosis, Hyperlordosis, Ovoid ver... OMIM:253010
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Shashi-Pena Syndrome
Kyphosis, Scoliosis OMIM:617190
Cockayne Syndrome Type 2
Kyphosis, Scoliosis, Developmental cataract, Male hypogonadism, Conjunctivitis ORPHA:90322
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Spina bifida occulta, Iris coloboma, Cataract, I... OMIM:612109
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA, Male i... OMIM:227650
Lcat Deficiency
Corneal opacity ORPHA:650
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Lens subluxation, Ectopia pupillae, Platyspondyly, Scoliosis, Ovoid vertebral bo... ORPHA:85167
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Congenital Sialidosis Type 2
Corneal opacity, Cataract, Developmental cataract ORPHA:93400
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis OMIM:611890
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Kyphoscoliosis OMIM:163200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism ORPHA:352447
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hemivertebrae, Iris coloboma, Sclerocornea ORPHA:77298
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
3Q29 Microduplication Syndrome
Short neck, Iris coloboma, Cataract, Aniridia, Sclerocornea ORPHA:251038
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Aniridia OMIM:612469
Trisomy 13
Kyphosis, Cognitive impairment, Scoliosis, Iris coloboma, Cataract, Aplasia/Hypoplasia of the iris ORPHA:3378
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Pterygium, Vertebral wedging OMIM:259450
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Sanjad-Sakati Syndrome
Spinal canal stenosis, Corneal opacity, Astigmatism ORPHA:2323
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA, Anteri... OMIM:227645
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Scoliosis, Corneal erosion, Heterochromia iridis ORPHA:1764
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Abnormal anterior chamber morphology, Megalocornea, Scoliosis, Astigmatism, Iridodonesi... ORPHA:2479
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Platyspondyly, Scoliosis, Cataract, Mor... OMIM:108300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Butterfly vertebrae, Astigmatism OMIM:301056
Trisomy 9P
Kyphosis, Abnormal pupil morphology, Short neck, Scoliosis, Sacral dimple ORPHA:236
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Lumbar hyperlordosis, Platyspondyly, Short neck, Ovoid vertebral bodies ORPHA:1830
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Scheie Syndrome
Corneal opacity ORPHA:93474
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... OMIM:156530
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Cognitive impairment OMIM:614898
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:600901
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Hypogonadotropic hypogonadism, Cataract, Vertebral hypoplasia... OMIM:206900
Cystinosis
Corneal opacity ORPHA:213
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta, Hypogonadism ORPHA:2983
Mosaic Trisomy 8
Vertebral segmentation defect, Corneal opacity, Short neck, Scoliosis ORPHA:96061
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Platyspondyly, Scoliosis OMIM:234250
Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Corneal opacity, Kyphoscoliosis, Coronal cleft vertebrae, Megalocorn... ORPHA:536471
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Harrod Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:2115
Bruck Syndrome
Pterygium, Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Cataract, Ocular albinism ORPHA:2719
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Short neck, Scoliosis, Spinal rigidity ORPHA:75840
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Incontinentia Pigmenti
Keratitis, Corneal opacity, Cognitive impairment, Scoliosis, Spina bifida occulta, Cataract ORPHA:464
Focal Dermal Hypoplasia
Corneal opacity, Cognitive impairment, Scoliosis, Iris coloboma, Hypoplasia of the iris, Ectopia ... ORPHA:2092
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Kyphoscoliosis, C1-C2 subluxation, Vertebral compression fracture, Peripheral op... OMIM:259600
Mucopolysaccharidosis Type 1
Spinal canal stenosis, Corneal opacity, Scoliosis, Abnormal form of the vertebral bodies ORPHA:579
Larsen Syndrome
Beaking of vertebral bodies, Corneal opacity, Spondylolysis, Scoliosis, Spina bifida occulta, Cer... OMIM:150250
Hurler Syndrome
Spinal canal stenosis, Corneal opacity, Short neck, Scoliosis, Abnormal vertebral morphology ORPHA:93473
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Mucopolysaccharidosis, Type Vi
Corneal opacity, Lumbar hyperlordosis, Kyphoscoliosis, Ovoid vertebral bodies, Anterior wedging o... OMIM:253200
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck, Hypogonadism ORPHA:3409
Alstrom Syndrome
Kyphosis, Subcapsular cataract, Hypergonadotropic hypogonadism, Irregular menstruation, Scoliosis OMIM:203800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Short neck, Scoliosis ORPHA:178148
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Abnormality of the vertebral column, Opacification of the corneal stroma, Recurrent co... OMIM:308205
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis ORPHA:352490
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Crisponi Syndrome
Kyphosis, Scoliosis, Cognitive impairment ORPHA:1545
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Weismann-Netter Syndrome
Horizontal sacrum, Kyphosis, Scoliosis OMIM:112350
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:2617
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:88628
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Short neck, Opacification of the corneal stroma, Posterior embryotoxon, Peters ... OMIM:612582
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Scoliosis OMIM:252600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Mosaic Trisomy 9
Hemivertebrae, Corneal opacity, Short neck, Scoliosis ORPHA:99776
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Cognitive impairment OMIM:601853
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Microcornea, Hyperlordosis, Iris coloboma, Cataract ORPHA:568
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Rhizomelic Syndrome, Urbach Type
Kyphosis, Short neck, Abnormal form of the vertebral bodies, Cognitive impairment ORPHA:3098
Schaaf-Yang Syndrome
Kyphosis, Scoliosis, Hypogonadism OMIM:615547
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Platyspondyly, Short neck, Opacification of the corneal stroma, Astigmatism... OMIM:242900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis, Cognitive impairment ORPHA:1883
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Short neck, Scoliosis, Cognitive impairment ORPHA:488632
Desbuquois Dysplasia 1
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Developmental glaucoma OMIM:251450
Moebius Syndrome
Hypogonadotropic hypogonadism, Corneal opacity ORPHA:570
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Hypogonadism OMIM:300354
Mucopolysaccharidosis Type 3
Corneal opacity, Opacification of the corneal stroma, Abnormal form of the vertebral bodies, Scol... ORPHA:581
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis, Hypogonadism OMIM:615381
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Scoliosis, Aplasia/Hypopl... ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Micro Syndrome
Kyphosis, Cataract, Microcornea, Scoliosis ORPHA:2510
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
3Mc Syndrome 3
Corneal opacity, Sacral dimple OMIM:248340
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Chromosome 8Q21.11 Deletion Syndrome
Short neck, Cataract, Sclerocornea OMIM:614230
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
De Barsy Syndrome
Corneal opacity, Cataract, Kyphoscoliosis ORPHA:2962
Jaberi-Elahi Syndrome
Kyphosis, Cataract, Scoliosis OMIM:617988
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227646
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
3M Syndrome
Kyphosis, Increased vertebral height, Short neck, Scoliosis, Hyperlordosis, Decreased fertility ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Myopic astigmatism, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis OMIM:618443
Werner Syndrome
Low back pain, Cataract, Hypogonadism OMIM:277700
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Catara... ORPHA:3042
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Corneal opacity, Scoliosis, Astigmatism, Abnormality of the cervical spine ORPHA:464311
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Male infertility OMIM:244400
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Widow'S Peak Syndrome
Kyphosis OMIM:314570
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... ORPHA:93314
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Cowden Syndrome 5
Kyphosis, Cataract, Scoliosis OMIM:615108
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Corneal opacity, Scoliosis, Astigmatism, Abnormality of the cervical spine ORPHA:464306
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Fryns Syndrome
Corneal opacity, Short neck ORPHA:2059
Diastrophic Dysplasia
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae ORPHA:628
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Cognitive impairment ORPHA:93274
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis ORPHA:2522
Carpenter Syndrome 1
Short neck, Opacification of the corneal stroma, Microcornea, Scoliosis, Spina bifida occulta, Sa... OMIM:201000
4Q21 Microdeletion Syndrome
Kyphosis, Short neck, Scoliosis ORPHA:238750
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Platyspondyly, Short neck, Astigmatism, Cataract ORPHA:309282
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Kyphosis, Secondary amenorrhea OMIM:610489
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis, Cataract OMIM:158310
Progeroid Short Stature With Pigmented Nevi
Chordee, Thoracic scoliosis, Allergic conjunctivitis, Cataract, Premature ovarian insufficiency OMIM:176690
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Scoliosis, Cataract, Vertebral fusion ORPHA:96169
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Frank-Ter Haar Syndrome
Kyphosis, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Lateral Meningocele Syndrome
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Iris coloboma ORPHA:2789
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Cowden Syndrome 6
Kyphosis, Cataract, Scoliosis OMIM:615109
Neurofibromatosis Type 1
Kyphosis, Corneal opacity, Scoliosis, Memory impairment, Lisch nodules, Cataract, Heterochromia i... ORPHA:636
Brachyolmia Type 3
Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
3C Syndrome
Kyphosis, Hemivertebrae, Short neck, Scoliosis, Iris coloboma ORPHA:7
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Kyphosis, Corneal opacity, Mental deterioration, Platyspondyly, Abnormality of the ver... ORPHA:2273
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Scoliosis OMIM:300280
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:2655
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Platyspondyly, Scoliosis, Cata... ORPHA:534
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Short neck, Scoliosis ORPHA:3191
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Atlantoaxial instability, Platyspondyly, Scoliosis, Hypopl... OMIM:607326
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis, Astigmatism OMIM:618493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Ocular Cystinosis
Corneal crystals ORPHA:411641
Fabry Disease
Corneal opacity, Cognitive impairment, Conjunctival telangiectasia, Cataract, Corneal dystrophy ORPHA:324
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis, Cognitive impairment OMIM:617143
Atkin-Flaitz Syndrome
Kyphosis, Scoliosis OMIM:300431
Xeroderma Pigmentosum
Keratitis, Cognitive impairment, Conjunctival telangiectasia, Opacification of the corneal stroma... ORPHA:910
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bo... ORPHA:2311
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... ORPHA:2916
Prader-Willi Syndrome
Kyphosis, Infertility, Hypogonadotropic hypogonadism, Oligomenorrhea, Scoliosis, Primary amenorrh... OMIM:176270
Lathosterolosis
Opacification of the corneal stroma, Cataract, Microcornea, Abnormal thoracic spine morphology ORPHA:46059
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Subaortic Stenosis--Short Stature Syndrome
Short neck, Opacification of the corneal stroma, Microcornea OMIM:271960
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Corneal opacity, Scoliosis, Thoracolumbar kyphosis ORPHA:2072
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... ORPHA:94068
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Platyspondyly, Cataract, Absent anterior chamber of the eye, Iris atrophy OMIM:259770
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... OMIM:183900
Becker Nevus Syndrome
Kyphosis, Scoliosis, Spina bifida occulta ORPHA:64755
Distal Tetrasomy 15Q
Kyphosis, Scoliosis, Corneal dystrophy ORPHA:314588
Wolf-Hirschhorn Syndrome
Kyphosis, Megalocornea, Abnormality of the vertebral column, Scoliosis, Abnormal form of the vert... ORPHA:280
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Ectopia pupillae, Hemivertebrae, Short neck, Scoliosis OMIM:618223
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis ORPHA:98863
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Infertility, Lumbar hyperlordosis, Impotence, Streak ovary, Hypergonadotropic hypogonad... ORPHA:2232
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Scoliosis OMIM:615273
Coffin-Lowry Syndrome
Kyphosis, Cataract, Abnormal form of the vertebral bodies, Scoliosis ORPHA:192
Cowden Syndrome 1
Kyphosis, Cataract, Scoliosis OMIM:158350
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis ORPHA:171436
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis, Astigmatism ORPHA:261250
Mucopolysaccharidosis Type 2
Corneal opacity, Cognitive impairment, Mental deterioration, Progressive neurologic deterioration... ORPHA:580
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Abnormality of the vertebral column, Spina bifida occulta, Pro... ORPHA:2369
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis ORPHA:98855
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Buphthalmos, Short neck, Corneal dystrophy, Keratoconjunctivitis sicca ORPHA:495875
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Lumbar hyperlordosis, Platyspondyly OMIM:616482
Mucopolysaccharidosis Type 2, Severe Form
Spinal canal stenosis, Corneal opacity, Cognitive impairment, Mental deterioration, Abnormal vert... ORPHA:217085
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Kyphosis, Platyspondyly OMIM:618476
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Oculoectodermal Syndrome
Short neck, Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism OMIM:600268
Mucopolysaccharidosis Type 2, Attenuated Form
Spinal canal stenosis, Corneal opacity, Cognitive impairment, Mental deterioration, Abnormal vert... ORPHA:217093
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Scoliosis, Iris hypopigmentation, Cataract, Vertebral fusion, Sacral... OMIM:610443
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Infertility, Cognitive impairment, Primary amenorrhea, Scoliosis, Hypogonadism