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Gene: Cdc14b MGI:2441808

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Cataract, Infertility OMIM:300719
Galactosialidosis
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology ORPHA:351
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Xeroderma Pigmentosum, Complementation Group G
Cataract, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Nathalie Syndrome
Cataract ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cataract 42
Cataract, Developmental cataract OMIM:115900
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
X-Linked Retinoschisis
Cataract ORPHA:792
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Opacific... ORPHA:1643
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Scoliosis, Decreased corneal thickness, Sp... OMIM:229200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Astigmatism, Dementia, Scoliosis, Defici... OMIM:278760
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Trichomegaly
Cataract OMIM:190330
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies ORPHA:2370
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract ORPHA:85288
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment ORPHA:1532
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Hypogonadism ORPHA:2528
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Kyphosis, Dementia, Infertility, Scoliosis, Mental deterioration OMIM:614409
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Corneal opacity, Developmental cataract OMIM:618815
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Galactosemia Iv
Cataract OMIM:618881
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Horizontal Gaze Palsy With Progressive Scoliosis
Cognitive impairment, Kyphosis, Scoliosis, Short neck ORPHA:2744
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Hypogonadism, Attention deficit hyperactivity disorder, Testicul... ORPHA:281090
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Kyphosis, Microcornea, Scoliosis, Abnormality of the cer... ORPHA:48431
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Galactosemia Ii
Cataract OMIM:230200
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Abnormal vertebral segmentation and fusion, Short... OMIM:244600
Retinitis Pigmentosa
Keratoconus, Cataract, Hypogonadism, Abnormal testis morphology ORPHA:791
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Abnormal testis morphology ORPHA:317
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Recessive X-Linked Ichthyosis
Cryptorchidism, Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Abnormal sperm head morphology, Dementia, Infertility, Scoliosis, Cognitive impairment,... ORPHA:320391
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased fertility, Primary amenorrhea ORPHA:2410
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Cataract OMIM:618392
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma, Anterior beaking of lumb... OMIM:230650
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amen... ORPHA:3085
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Ichthyosis, X-Linked
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Premature ovarian insufficiency, Scoliosis ORPHA:101006
Kahrizi Syndrome
Cataract, Thoracic kyphosis, Iris coloboma OMIM:612713
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Scheie Syndrome
Spondylolisthesis, Corneal opacity, Short neck OMIM:607016
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti... OMIM:278730
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod... OMIM:618961
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Nathalie Syndrome
Cataract OMIM:255990
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Alpha-Mannosidosis
Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis ORPHA:61
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Corneal opacity, Spinal canal stenosis ORPHA:93476
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Harel-Yoon Syndrome
Corneal opacity, Scoliosis, Developmental cataract OMIM:617183
Sialidosis Type 2
Kyphosis, Corneal opacity ORPHA:87876
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Cataract, Corneal opacity, Scoliosis ORPHA:496790
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Atlantoaxial abnormality, Cataract, Kyphoscoliosis ORPHA:3433
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract OMIM:619420
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Scoliosis, Defective DNA repair after ultraviolet radiation dama... OMIM:610965
Pellagra-Like Syndrome
Cataract, Confusion OMIM:260650
Flynn-Aird Syndrome
Cataract, Kyphoscoliosis, Dementia OMIM:136300
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Cataract, Corneal opacity, Decreased testicular size ORPHA:1867
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Primary amenorrhea... OMIM:604168
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Attention deficit hypera... OMIM:152950
Arthrogryposis, Distal, Type 5
Keratoconus, Kyphosis, Keratoglobus, Astigmatism, Scoliosis OMIM:108145
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Platyspondyly, Cataract, Hypoplasia of the odontoid process ORPHA:85172
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency ORPHA:3156
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Sjogren-Larsson Syndrome
Astigmatism, Thoracic kyphosis, Opacification of the corneal epithelium OMIM:270200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased corneal thickness, D... ORPHA:293967
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness, ... ORPHA:90354
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Hypomelanosis Of Ito
Kyphosis, Cataract, Iris coloboma, Scoliosis OMIM:300337
Sialidosis Type 1
Cataract, Corneal opacity, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:812
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cryptorchidism, Cataract, Scoliosis ORPHA:893
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma OMIM:252605
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cataract 47
Microcornea, Cataract OMIM:612018
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Cataract, Hypogonadism OMIM:302950
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Metatropic Dysplasia
Cataract, Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodie... ORPHA:2635
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Spinal canal stenosis, Developmental cataract, Scoliosis, Cerv... ORPHA:436174
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... OMIM:313400
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Retinitis Pigmentosa 40
Cataract OMIM:613801
Mucopolysaccharidosis Type 4
Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoli... ORPHA:582
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism OMIM:619797
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Scoliosis ORPHA:1387
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Microtriplication 11Q24.1
Keratoconus, Scoliosis, Short neck ORPHA:289522
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Scoliosis, Mental deterioration, Iris coloboma ORPHA:2611
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism ORPHA:363741
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Iris coloboma ORPHA:139471
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Mental deterioration, Conjunctivitis, Defective DNA repair after ultraviolet radiation... OMIM:278700
Baralle-Macken Syndrome
Kyphosis, Cataract OMIM:619255
Sengers Syndrome
Mental deterioration, Cataract, Premature ovarian insufficiency, Developmental cataract OMIM:212350
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278740
Sjögren-Larsson Syndrome
Kyphosis, Corneal erosion, Scoliosis ORPHA:816
Classic Galactosemia
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... ORPHA:79239
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis OMIM:615761
Gorlin Syndrome
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebr... ORPHA:377
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Cataract, Abnormal intervertebral disk morphology ORPHA:1345
Galactokinase Deficiency
Psychomotor deterioration, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficie... ORPHA:79237
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Kyphosis, Cataract, Scoliosis ORPHA:79107
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Platyspondyly, Cataract, Astigmatism ORPHA:250984
Sandhoff Disease
Kyphosis, Motor deterioration, Progressive psychomotor deterioration ORPHA:796
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Flynn-Aird Syndrome
Kyphosis, Cataract, Scoliosis, Dementia ORPHA:2047
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Short neck, Cryptorchidism, Iris hypopigmentation ORPHA:284160
Congenital Varicella Syndrome
Cataract ORPHA:291
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kypho... OMIM:253010
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Confusion ORPHA:309288
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st... OMIM:301900
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Nevus Comedonicus Syndrome
Cataract, Spina bifida occulta, Abnormal vertebral morphology, Scoliosis ORPHA:64754
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
De Sanctis-Cacchione Syndrome
Keratitis, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Con... OMIM:278800
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Hemochromatosis, Type 4
Impotence, Cataract OMIM:606069
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, Cryptorchidism, Cognitive impairment, Posterior embr... ORPHA:912
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Alagille Syndrome
Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Abnormal form of the v... ORPHA:52
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology, Iris coloboma ORPHA:77298
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Fish-Eye Disease
Corneal opacity ORPHA:79292
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Scoliosis, Developmental cataract OMIM:248800
Cataract 48
Cataract OMIM:618415
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Scoliosis, Lens subluxation, Microphakia ORPHA:171844
Joubert Syndrome 9
Cataract, Astigmatism, Scoliosis OMIM:612285
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Trichothiodystrophy
Cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Developmental cataract, ... ORPHA:33364
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Scoliosis OMIM:618124
Hurler-Scheie Syndrome
Kyphosis, Corneal opacity, Scoliosis OMIM:607015
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Decreased testicular size OMIM:612469
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Abnormal form of the vertebral bodies ORPHA:93399
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Wilson Disease
Back pain, Kayser-Fleischer ring, Abnormality of the menstrual cycle ORPHA:905
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Scoliosis, Anterior be... ORPHA:584
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Pseudopseudohypoparathyroidism
Cataract, Cognitive impairment, Short neck OMIM:612463
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Attention deficit hyperactivity disorder OMIM:620007
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... OMIM:169550
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Proximal Myotonic Myopathy
Cataract ORPHA:606
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Fucosidosis
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae ORPHA:349
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Bardet-Biedl Syndrome 9
Astigmatism, Irregular menstruation, Cataract OMIM:615986
Sanjad-Sakati Syndrome
Cryptorchidism, Astigmatism, Corneal opacity, Spinal canal stenosis ORPHA:2323
Dyggve-Melchior-Clausen Disease
Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral end... ORPHA:239
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Corneal opacity, Developmental cataract OMIM:616603
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Nail-Patella Syndrome
Keratoconus, Back pain, Cataract, Lumbar hyperlordosis, Antecubital pterygium, Microcornea, Micro... OMIM:161200
Walker-Warburg Syndrome
Cataract, Corneal opacity, Cryptorchidism, Microcornea, Iris coloboma ORPHA:899
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Gapo Syndrome
Keratoconus, Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Hypogonadism, ... ORPHA:2067
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Opacification of the corneal stroma OMIM:601356
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Oculocerebrocutaneous Syndrome
Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Cognitive impairment, Opacification of the corneal ... ORPHA:583
Harrod Syndrome
Kyphosis, Cataract, Scoliosis, Cryptorchidism ORPHA:2115
Carpenter Syndrome
Cryptorchidism, Abnormal cornea morphology, Kyphoscoliosis ORPHA:65759
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Gm1 Gangliosidosis
Corneal opacity, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, S... ORPHA:354
Mosaic Trisomy 8
Corneal opacity, Short neck, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Decreased ... ORPHA:96061
Classic Phenylketonuria
Cataract, Attention deficit hyperactivity disorder, Mental deterioration, Memory impairment, Moto... ORPHA:79254
Monilethrix
Cataract, Cognitive impairment ORPHA:573
Lowry-Maclean Syndrome
Developmental glaucoma, Bilateral cryptorchidism, Megalocornea, Corneal opacity ORPHA:2409
Hurler Syndrome
Corneal opacity, Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid pro... OMIM:607014
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Astigmatism, Corneal opacity, Butterfly vertebrae OMIM:301056
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... OMIM:253220
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Rapid neurologic deterioration, Corneal opacity OMIM:272200
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Lcat Deficiency
Corneal opacity ORPHA:650
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Trisomy 13
Cataract, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the iris, Scoliosis, Cognitive impairme... ORPHA:3378
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Posterior subcapsular cataract, Cataract, Hypogonadism OMIM:616200
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Progressive neurologic deterioration ORPHA:85317
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induce... OMIM:227650
Galactosemia I
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency OMIM:230400
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Aniridia 3
Aniridia, Cataract OMIM:617142
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Cataract, Hypogonadism ORPHA:79095
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Cockayne Syndrome Type 2
Kyphosis, Cryptorchidism, Developmental cataract, Conjunctivitis, Scoliosis, Male hypogonadism ORPHA:90322
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Cryptorchidism ORPHA:352490
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, Platyspondyly, Lens subluxation, Scoli... ORPHA:85167
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
3Mc Syndrome 3
Cryptorchidism, Sacral dimple, Corneal opacity OMIM:248340
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Kyphoscoliosis OMIM:163200
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Iris hypopigmentation ORPHA:2719
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Cataract ORPHA:324737
Oculoauricular Syndrome
Cataract, Sclerocornea, Spina bifida occulta, Developmental cataract, Microcornea, Iris cyst, Pos... OMIM:612109
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Angelman Syndrome
Keratoconus, Astigmatism, Scoliosis, Delayed menarche, Iris hypopigmentation ORPHA:72
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Short neck, Aniridia, Iris coloboma ORPHA:251038
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Microphthalmia, Lenz Type
Cataract, Hyperlordosis, Kyphosis, Cryptorchidism, Microcornea, Scoliosis, Iris coloboma ORPHA:568
Costello Syndrome
Keratoconus, Cryptorchidism, Short neck ORPHA:3071
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Pseudohypoparathyroidism, Type Ic
Cataract, Hypogonadism, Cognitive impairment, Short neck OMIM:612462
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Cryptorchidism OMIM:601499
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Cryptorchidism, Anterior wedging of T12, Deficient excision of UV... OMIM:227645
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Scoliosis, Heterochromia iridis ORPHA:1764
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:618484
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Attention deficit hyperactivity disorder, Cryptorchidism OMIM:615433
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Bruck Syndrome 1
Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis, Pterygium OMIM:259450
Scheie Syndrome
Corneal opacity ORPHA:93474
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Hypergonadotropic hypo... OMIM:600901
Micro Syndrome
Cataract, Kyphosis, Cryptorchidism, Microcornea, Scoliosis ORPHA:2510
Larsen Syndrome
Vertebral fusion, Corneal opacity, Cervical kyphosis, Cryptorchidism, Spondylolysis, Scoliosis, B... OMIM:150250
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Short neck, Platyspondyly ORPHA:1830
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... ORPHA:2479
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis ORPHA:236
Stickler Syndrome, Type I
Cataract, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Sp... OMIM:108300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Cystinosis
Corneal opacity ORPHA:213
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Cataract, Sclerocornea, Short neck OMIM:614230
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Kyphosis, Cryptorchidism, Astigmatism, Scoliosis, Attention deficit hyperactivit... ORPHA:464311
Dystonia-Deafness Syndrome 1
Cataract, Kyphoscoliosis OMIM:607371
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Microphthalmia, Syndromic 3
Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Sclerocornea, Cryptorchidism, Hemivert... OMIM:206900
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Mosaic Trisomy 9
Corneal opacity, Short neck, Cryptorchidism, Hemivertebrae, Scoliosis ORPHA:99776
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism, Platyspondyly... OMIM:242900
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Cryptorchidism, Keratoconjunctivitis, Keratoconjunctivitis sicca, Re... ORPHA:2363
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Short neck, Cryptorchidism, Cognitive impairment, Scoliosis ORPHA:488632
Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Congenital kyphoscoliosis, Corneal opacity, Kyphoscoliosis, Cryptorc... ORPHA:536471
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
De Barsy Syndrome
Cryptorchidism, Cataract, Corneal opacity, Kyphoscoliosis ORPHA:2962
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Cognitive impairment OMIM:614898
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Cowden Syndrome 5
Hydrocele testis, Kyphosis, Cataract, Scoliosis OMIM:615108
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis, Scoliosis, Cognitive impairment, Attention deficit hyperact... ORPHA:464
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Bruck Syndrome
Kyphosis, Pterygium, Scoliosis, Platyspondyly ORPHA:2771
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Cryptorchidism, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Kyphoscoliosis, Vertebral compression fr... OMIM:259600
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea, Cryptorchidism OMIM:613001
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Opacification of the corneal stroma OMIM:601853
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Attention deficit hyperactivity disorder, Deficie... OMIM:227646
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity ORPHA:352447
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Cowden Syndrome 6
Hydrocele testis, Kyphosis, Cataract, Scoliosis OMIM:615109
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Scoliosis, Cognitive impairment, Iris co... ORPHA:2092
Chromosome 6Pter-P24 Deletion Syndrome
Short neck, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterio... OMIM:612582
Mucopolysaccharidosis Type 1
Scoliosis, Corneal opacity, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:579
Hurler Syndrome
Corneal opacity, Short neck, Spinal canal stenosis, Scoliosis, Abnormal vertebral morphology ORPHA:93473
Transketolase Deficiency
Attention deficit hyperactivity disorder, Cataract, Conjunctivitis, Secondary amenorrhea ORPHA:488618
Alstrom Syndrome
Hypergonadotropic hypogonadism, Kyphosis, Irregular menstruation, Scoliosis, Subcapsular cataract OMIM:203800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:88628
Fryns Syndrome
Cryptorchidism, Corneal opacity, Short neck ORPHA:2059
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli... ORPHA:2789
Usher Syndrome
Astigmatism, Decreased fertility, Cognitive impairment, Cataract ORPHA:886
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cryptorchidism, Cataract, Opacification of the corneal stroma OMIM:214110
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Scoliosis, Hyperopic astigmatism OMIM:252600
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o... OMIM:253200
Neurofibromatosis Type 1
Cataract, Corneal opacity, Kyphosis, Cryptorchidism, Scoliosis, Lisch nodules, Attention deficit ... ORPHA:636
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Short neck, Cryptorchidism, Buphthalmos, Keratoconjunctivitis... ORPHA:495875
Moebius Syndrome
Corneal opacity, Hypogonadotropic hypogonadism ORPHA:570
Microphthalmia, Syndromic 5
Microcornea, Cryptorchidism, Cataract OMIM:610125
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck ORPHA:2983
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Kyphosis, Cryptorchidism, Astigmatism, Scoliosis, Abnormality of the cervical spine ORPHA:464306
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Cryptorchidism, Microcornea, Iris coloboma ORPHA:3301
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Kyphosis, Hypogonadism, Short neck ORPHA:3409
Alpha-Mannosidosis, Infantile Form
Short attention span, Cataract, Corneal opacity, Confusion, Short neck, Platyspondyly, Astigmatism ORPHA:309282
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Carpenter Syndrome 1
Sacral dimple, Short neck, Cryptorchidism, Microcornea, Scoliosis, Opacification of the corneal s... OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Hypogonadism, Decreased testicular size, Cryptorchidism OMIM:300354
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Koolen-De Vries Syndrome
Vertebral fusion, Cataract, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis ORPHA:96169
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness OMIM:618175
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Emanuel Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Astigmatism, Scoliosis OMIM:609029
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Schaaf-Yang Syndrome
Kyphosis, Hypogonadism, Scoliosis, Cryptorchidism OMIM:615547
Rhizomelic Syndrome, Urbach Type
Cognitive impairment, Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal cornea morphology OMIM:244400
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Werner Syndrome
Low back pain, Cataract, Hypogonadism OMIM:277700
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Distal Triplication 15Q
Hydrocele testis, Kyphosis, Corneal dystrophy, Scoliosis ORPHA:314588
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Platyspondyly, Scoliosis OMIM:251450
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Kyphosis, Cataract, Scoliosis OMIM:616449
Jaberi-Elahi Syndrome
Kyphosis, Cataract, Scoliosis OMIM:617988
Crisponi Syndrome
Cognitive impairment, Kyphosis, Scoliosis ORPHA:1545
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Progressive neurologic deterioration, Abnormal form of the vertebral b... ORPHA:581
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular ve... ORPHA:3042
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Scoliosis OMIM:618443
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea, Scoliosis OMIM:230740
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Chordee, Peters anomaly, Iris coloboma OMIM:309801
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism, Scoliosis OMIM:208050
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Scoliosis OMIM:601812
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Kyphosis, Corneal erosion, Cryptorchidism, Platyspondyly, Astigmatism... ORPHA:2273
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
16Q24.3 Microdeletion Syndrome
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism ORPHA:261250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Cataract, Scoliosis OMIM:158350
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Cognitive impairment, Kyphosis, Scoliosis ORPHA:1883
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Male hypogonadism, Scoliosis, Cryptorchidism OMIM:615381
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Absent anterior chamb... OMIM:259770
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... ORPHA:2311
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Kyphoscoliosis, Microcornea, Platyspondyly, Progressive congenital scoliosis OMIM:225400
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Ocular Cystinosis
Corneal crystals ORPHA:411641
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Kyphosis, Abnormal pupil morphology, Cryptorchidism, Buphthalmos, Azoo... ORPHA:534
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Cataract, Kyphosis, Cryptorchidism, Scoliosis, Spondylolisthesis... OMIM:610443
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis ORPHA:2616
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Primary amenorrhea, Infertility, Scolios... OMIM:176270
Revesz Syndrome
Abnormality of chromosome stability, Megalocornea, Leukocoria, Progressive neurologic deterioration OMIM:268130
Wolf-Hirschhorn Syndrome
Sacral dimple, Sclerocornea, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Abn... ORPHA:280
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Short neck ORPHA:3082
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Cataract, Premature ovarian insufficiency, Allergic conjunctivitis, Chordee OMIM:176690
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Astigmatism, Scoliosis OMIM:618493
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus, Scoliosis ORPHA:3342
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Hypogonadism, Opacification of ... ORPHA:910
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism ORPHA:3121
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Cognitive impairment ORPHA:93274
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Iris coloboma ORPHA:7
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Cognitive impairment ORPHA:324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Cryptorchidism ORPHA:404440
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cataract, Hyperlordosis, Ectopia lentis, Kyphosis, Short neck, Spi... ORPHA:800
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Lathosterolosis
Microcornea, Abnormal thoracic spine morphology, Cataract, Opacification of the corneal stroma ORPHA:46059
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Kyphosis, Secondary amenorrhea OMIM:610489
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:94065
Limb Body Wall Complex
Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc... ORPHA:2369
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Scoliosis OMIM:615273
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Short neck, Kyphosis, Cryptorchidism, Hypoplasia of the iris, Scoliosis, A... OMIM:619194
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Classical-Like Ehlers-Danlos Syndrome Type 2
Sacral dimple, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Cryptorchidism, Keratoconjunctivitis... ORPHA:536532
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Short attention span, Corneal opacity, Progressive neurologic d... ORPHA:580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Azoospermia, Corneal opacity, Scoliosis ORPHA:2072
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Trisomy 20P
Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Coffin-Lowry Syndrome
Kyphosis, Cataract, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Spinal canal stenosis, Cognitive impairment, Mental deteri... ORPHA:217093
Lymphedema-Distichiasis Syndrome
Kyphosis, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodi... ORPHA:818
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Oligomenorrhea, Biconcave vertebral bodies OMIM:219090
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Scoliosis OMIM:118650
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Spinal canal stenosis, Cognitive impairment, Mental deterioration, Abnormal vert... ORPHA:217085
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Ectopia pupillae, Scoliosis, Attention deficit hyperactivity... OMIM:618223
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Corneal opacity, Sclerocornea, Posterior embryotoxon, Abnormal testis morphology ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Atelis Syndrome 2
Kyphosis, Sacral dimple, Attention deficit hyperactivity disorder, Developmental cataract OMIM:620185
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis, Cryptorchidism ORPHA:364028
Cockayne Syndrome A
Cataract, Kyphosis, Cryptorchidism, Irregular menstruation, Dementia, Hypogonadism, Opacification... OMIM:216400
Mend Syndrome
Sacral dimple, Cataract, Cryptorchidism, Kyphosis, Anterior polar cataract OMIM:300960
19P13.12 Microdeletion Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:254346
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cryptorchidism, Cataract, Opacification of the corneal stroma OMIM:214100
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Cryptorchidism, Primary amenorrhea, Hypogonadism, Infertility, Scoliosis, Cognitive imp... ORPHA:398069
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Anterior clefting of vertebral bodies, Kyphosis, Cryptorchid... OMIM:265000
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Peters Plus Syndrome
Sacral dimple, Cataract, Corneal opacity, Short neck, Cryptorchidism, Microcornea, Peters anomaly... ORPHA:709
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Keratoconjunctivitis sicca, Ectopia lentis OMIM:616914
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Hypogonadism, Attention deficit hyperactivity disorder, Scoliosis ORPHA:500055
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Iris coloboma ORPHA:251014
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation OMIM:616482
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Williams Syndrome
Sacral dimple, Flat cornea, Corneal opacity, Cataract, Hypogonadotropic hypogonadism, Hyperlordos... ORPHA:904
Meckel Syndrome
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Tangier Disease
Corneal opacity ORPHA:31150
Marden-Walker Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:248700
Cohen Syndrome
Kyphosis, Iris coloboma, Scoliosis, Cryptorchidism ORPHA:193
Autosomal Dominant Cutis Laxa
Scoliosis, Corneal opacity, Abnormal curvature of the vertebral column, Developmental cataract ORPHA:90348
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Kyphosis, Scoliosis, Developmental cataract ORPHA:464738
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
X-Linked Intellectual Disability, Cabezas Type
Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:85293
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder ORPHA:261222
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Classic Homocystinuria
Kyphosis, Cataract, Scoliosis, Ectopia lentis ORPHA:394
Cockayne Syndrome Type 3
Cataract, Progressive neurologic deterioration, Kyphosis, Microcornea, Keratoconjunctivitis sicca... ORPHA:90324
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Cataract, Corneal opacity OMIM:274000
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Oculoectodermal Syndrome
Short neck, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Osteogenesis Imperfecta
Corneal opacity, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of th... ORPHA:666
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis OMIM:617061
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Aspartylglucosaminuria
Cataract, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of vertebral... OMIM:208400
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Abnormality of the menstrual cycle, Decreased fertility, Keratoconjunctivitis sicca,... ORPHA:285
Mucolipidosis Ii Alpha/Beta
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Lower t... OMIM:252500
Marfan Syndrome
Flat cornea, Ectopia lentis, Lens luxation, Kyphosis, Hypoplasia of the iris, Lens subluxation, S... ORPHA:558
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Platyspondyly, Cognitive impairment, Mental deterioration OMIM:618476
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
2P15P16.1 Microdeletion Syndrome
Kyphosis, Hypogonadism, Attention deficit hyperactivity disorder, Scoliosis, Decreased testicular... ORPHA:261349
Mend Syndrome
Kyphosis, Sacral dimple, Cataract, Cryptorchidism ORPHA:401973
Monosomy 9Q22.3
Abnormality of the vertebral column, Cataract, Kyphosis, Short neck ORPHA:77301
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... OMIM:249420
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Irregular sclerotic endplates, Kyphoscoliosis, Hypogonadotropic hypogo... ORPHA:3455
Mosaic Trisomy 1
Thoracic scoliosis, Opacification of the corneal stroma ORPHA:1692
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Biconcave vertebral bodies OMIM:130720
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2075
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis, Cryptorchidism OMIM:619951
Cockayne Syndrome
Cataract, Band keratopathy, Kyphosis, Cryptorchidism, Developmental cataract, Keratoconjunctiviti... ORPHA:191
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cryptorchidism, Cataract, Opacification of the corneal stroma OMIM:614866
Rett Syndrome
Kyphosis, Motor deterioration, Scoliosis OMIM:312750
Chime Syndrome
Corneal opacity ORPHA:3474
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis, Short attention span ORPHA:88644
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Cockayne Syndrome B
Kyphosis, Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacificat... OMIM:133540
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Lathosterolosis
Cataract, Butterfly vertebrae, Opacification of the corneal stroma, Lumbosacral meningocele OMIM:607330
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Cryptorchidism OMIM:619718
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Lowe Oculocerebrorenal Syndrome
Kyphosis, Cryptorchidism, Corneal scarring, Developmental cataract, Platyspondyly, Scoliosis, Den... OMIM:309000
Stuve-Wiedemann Syndrome 1
Scoliosis, Ovoid vertebral bodies, Opacification of the corneal stroma, Short neck OMIM:601559
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Van Den Ende-Gupta Syndrome
Sacral dimple, Sclerocornea OMIM:600920
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2215
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Astigmatism, Scoliosis OMIM:619482
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Popliteal pterygium, Opacification of the corneal stroma, P... OMIM:263650
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Ramon Syndrome
Kyphosis, Axenfeld anomaly, Scoliosis OMIM:266270
Wilson Disease
Kayser-Fleischer ring, Dementia OMIM:277900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Short neck OMIM:619745
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Fraser Syndrome 1
Cryptorchidism, Corneal opacity OMIM:219000
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:617602
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Kyphosis OMIM:219080
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Cataract, Kyphosis, Cryptorchidism, Astigmatism, Chordee, Scoliosis, Iris coloboma ORPHA:268261
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Kyphosis OMIM:610475
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis OMIM:301040
Hutchinson-Gilford Progeria Syndrome
Delayed menarche, Corneal ulceration, Corneal opacity, Female hypogonadism ORPHA:740
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:212065
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Developmental catara... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorchidism, Developmental catara... ORPHA:363958
Cowden Syndrome
Cataract, Kyphosis, Cognitive impairment, Scoliosis, Conjunctival hamartoma ORPHA:201
Hajdu-Cheney Syndrome
Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral ... ORPHA:955
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Digeorge Syndrome
Pilonidal sinus, Sclerocornea, Hydrocele testis, Scoliosis, Attention deficit hyperactivity disor... OMIM:188400
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis, At... OMIM:300966
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Cryptorchidism OMIM:619005
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Stickler Syndrome
Cataract, Ectopia lentis, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies,... ORPHA:828
Gaucher Disease
Corneal opacity ORPHA:355
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis ORPHA:476126
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odontoid process,... OMIM:602535
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Short neck, Cryptorchidism, Opacification of the corneal stroma OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Short attention span, Cataract, Kyphosis, Abnormal curvature of the vertebral column, ... OMIM:619475
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cryptorchidism OMIM:619123
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:616894
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Fryns Syndrome
Cryptorchidism, Opacification of the corneal stroma, Short neck OMIM:229850
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
1P36 Deletion Syndrome
Cataract, Kyphosis, Cryptorchidism, Ocular albinism, Spinal canal stenosis, Hypogonadism, Scoliosis ORPHA:1606
Yunis-Varon Syndrome
Cryptorchidism, Cataract, Sclerocornea ORPHA:3472
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Microphthalmia, Syndromic 6
Microcornea, Cryptorchidism, Female hypogonadism, Sclerocornea OMIM:607932
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Cognitive impairment OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis OMIM:618050
Wolf-Hirschhorn Syndrome
Vertebral fusion, Rieger anomaly, Sacral dimple, Kyphosis, Cryptorchidism, Abnormal form of the v... OMIM:194190
Mucopolysaccharidosis, Type Ii
Kyphosis, Short neck OMIM:309900
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Cryptorchidism, Opacification of the corneal stroma, Scoliosis, Recurrent corneal eros... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Opacification of the corneal stroma OMIM:615287
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis ORPHA:1507
Alexander Disease
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:58
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck pterygia, Seconda... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck pterygia, Seconda... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck pterygia, Seconda... ORPHA:99226
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Short neck, Kyphosis, Neck pterygia, Seconda... ORPHA:881
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism OMIM:130050
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Camurati-Engelmann Disease
Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Hypogonadism, Scoliosis ORPHA:1328
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Impotence, Amenorrhea ORPHA:314769
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Kyphosis, Cognitive impairment ORPHA:171629
Proteus Syndrome
Central heterochromia, Cataract, Testicular neoplasm, Kyphosis, Abnormal form of the vertebral bo... ORPHA:744
Sotos Syndrome
Sacrococcygeal teratoma, Cataract, Kyphosis, Cryptorchidism, Decreased fertility, Hydrocele testi... ORPHA:821
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Hypogonadism, Scoliosis, Cryptorchidism ORPHA:2658
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Poland Syndrome
Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Sp... ORPHA:2911
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Primrose Syndrome
Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Irregular ver... OMIM:259050
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Coffin-Siris Syndrome 1
Sacral dimple, Kyphosis, Cryptorchidism, Astigmatism, Scoliosis, Spina bifida occulta OMIM:135900
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Impotence ORPHA:963
Marden-Walker Syndrome
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Vascular Ehlers-Danlos Syndrome
Keratoconus, Cryptorchidism, Abnormal pupil morphology, Cognitive impairment ORPHA:286
Branchiooculofacial Syndrome
Cataract, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Iris coloboma OMIM:113620
Cdags Syndrome
Kyphosis OMIM:603116
Yunis-Varon Syndrome
Cataract, Anterior concavity of thoracic vertebrae, Sclerocornea, Kyphosis, Cryptorchidism OMIM:216340
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism OMIM:300967
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Mucolipidosis Type Ii
Kyphosis, Cognitive impairment ORPHA:576
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
17Q11 Microdeletion Syndrome
Short attention span, Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies ... ORPHA:97685
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Zttk Syndrome
Kyphosis, Hemivertebrae, Scoliosis OMIM:617140
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Alström Syndrome
Thoracic scoliosis, Cataract, Hypergonadotropic hypogonadism, Testicular fibrosis, Kyphosis, Post... ORPHA:64
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Wrinkly Skin Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:278250
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdc14b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdc14b.

No publications found that use IMPC mice or data for Cdc14b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cdc14btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdc14btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdc14btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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