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Gene: Limk2 MGI:1197517

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Gene Summary

Name:
LIM domain kinase 2
Synonyms:
A930024P04Rik,  LIM kinase 2,  whe,  Limk2a,  Limk2b

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Limk2tm1a(EUCOMM)Wtsi HET Early adult 1.52×10-14
increased mean corpuscular hemoglobin concentration Limk2tm1a(EUCOMM)Wtsi HET Early adult 3.71×10-05
increased body length Limk2tm1a(EUCOMM)Wtsi HET Early adult 3.65×10-07
abnormal locomotor activation Limk2tm1a(EUCOMM)Wtsi HET Early adult 5.01×10-05
long tibia Limk2tm1a(EUCOMM)Wtsi HET Early adult 1.15×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Limk2 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 Limk2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Abnormal size of the palpebral fissures, Microcornea, Anterior synechi... ORPHA:3214
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Orbital cyst OMIM:251505
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Micrognathia, Hypoplasia of the iris, Anterio... ORPHA:96125
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... OMIM:608470
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... OMIM:106210
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... OMIM:278730
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... OMIM:601552
Galactosialidosis
Corneal opacity ORPHA:351
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Morquio Syndrome C
Corneal opacity OMIM:252300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Ptosis ORPHA:1473
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization OMIM:617388
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... OMIM:614195
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Micrognathia, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Recu... OMIM:602562
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... OMIM:221900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... OMIM:180900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti... ORPHA:279914
Microphthalmia, Syndromic 16
Ankyloblepharon, Sclerocornea OMIM:611038
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity ORPHA:1532
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bartsocas-Papas Syndrome 2
Corneal opacity, Micrognathia, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axill... OMIM:619339
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis OMIM:615225
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Winchester Syndrome
Corneal opacity OMIM:277950
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Micrognathia, Upslanted... ORPHA:1794
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Oculoauricular Syndrome
Cataract, Short mandibular rami, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstructi... OMIM:612109
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioreti... OMIM:152950
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... OMIM:602400
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Acne ORPHA:577
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, ... ORPHA:247691
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Malar flat... OMIM:602482
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration OMIM:615458
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Harel-Yoon Syndrome
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Upslanted palpebral... OMIM:617183
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Telecanthus, Corneal opacity, Micrognathia, Developmental glaucoma, Aniridia ORPHA:1064
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Retinal neovascularization OMIM:619074
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Abnormal ... ORPHA:3163
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Abnormal dental ena... ORPHA:2363
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Bartsocas-Papas Syndrome
Corneal opacity, Micrognathia, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or a... ORPHA:1234
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypoplasia of the maxilla, Abnormal e... ORPHA:2399
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... OMIM:308800
Scheie Syndrome
Mandibular prognathia, Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Megalocornea, Corneal opacity, Temporomandibular joint ankylosis ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Wagro Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Hypertension, Aniridia, Malar fla... OMIM:612469
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... OMIM:615145
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, R... OMIM:300106
8Q21.11 Microdeletion Syndrome
Ptosis, Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Micrognathia, Blepharophimos... ORPHA:284160
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Upslanted palpebral fissure, Hype... ORPHA:496790
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea... OMIM:618175
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Dental malocclusion,... ORPHA:61
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Telecanthus, Cataract, Acne, Abnormal dental enamel morphology, Epic... ORPHA:567
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Hypertension, Corneal opacity, Micrognathia OMIM:166300
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Erythrokeratodermia Variabilis
Skin rash, Cataract, Corneal opacity ORPHA:317
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowi... OMIM:602111
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Hurler-Scheie Syndrome
Cardiomyopathy, Rhinitis, Corneal opacity ORPHA:93476
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Telecanthus, Hypoplasia of the maxilla, Microcornea, Opacification of the ... OMIM:601499
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Sc... OMIM:107320
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... ORPHA:85410
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Bilateral ptosis, Corneal neovascularization, Corneal scarring, Lagophthalmos ORPHA:404454
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Microcornea, Abnormality of the maxillary sinus, Eyel... ORPHA:141099
Sjogren-Larsson Syndrome
Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... OMIM:175780
Lowry-Maclean Syndrome
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Deve... ORPHA:2409
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Skin rash ORPHA:290
Neurotrophic Keratopathy
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... ORPHA:137596
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Sympathetic Ophthalmia
Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Astig... ORPHA:2095
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Brittle Cornea Syndrome 1
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia, Heart murmur ORPHA:1867
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... ORPHA:247234
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Ophthalmomandibulomelic Dysplasia
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma OMIM:164900
Al-Gazali Syndrome
Recurrent pneumonia, Corneal opacity, Sclerocornea, Micrognathia OMIM:609465
Zellweger Syndrome
Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Micrognathia, Brushfiel... ORPHA:912
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Akinesia, Tremor, Limb ataxia, Gait ataxia, Blepharospasm... ORPHA:48818
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Skin rash, An... ORPHA:91500
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos OMIM:615877
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Recurrent skin infections, Eczema, Keratitis, Absent eyelashes, Erythroderma, Hyp... OMIM:308205
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Akinesia, Dystonia OMIM:300894
Perry Syndrome
Tremor, Short stepped shuffling gait, Akinesia, Dystonia OMIM:168605
Sialidosis Type 2
Corneal opacity ORPHA:87876
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Arthrogryposis Multiplex Congenita 6
Akinesia, Adducted thumb OMIM:619334
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia OMIM:606693
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis ORPHA:158000
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Sclerocornea, Dilated cardiomyopathy, Lacrimal... OMIM:300952
Apolipoprotein A-I Deficiency
Xanthelasma, Angina pectoris, Opacification of the corneal stroma ORPHA:425
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
3Mc Syndrome 3
Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:248340
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Manganese Poisoning
Postural tremor, Gait disturbance, Akinesia, Dystonia ORPHA:306682
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle... ORPHA:1467
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Corneal opacity, Iris coloboma, Ptosis ORPHA:1647
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Corneal opacity, Synophrys, Cleft mandible, Thin eyebrow, Agenesis of central inciso... ORPHA:364577
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Rocker bottom foot, Akinesia, Acanthocytosis, Hip dislocation, Hand tremor, Ha... OMIM:618947
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Ptosis OMIM:618283
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Corneal opacity, Abnormal left ventricular function, Astigmatism, Pulmonic stenosis,... OMIM:301056
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Tangier Disease
Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion OMIM:205400
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Corneal opacity, Pneumonia ORPHA:309288
Chromosome 6Pter-P24 Deletion Syndrome
Epicanthus, Telecanthus, Telangiectasia, Downslanted palpebral fissures, Axenfeld anomaly, Opacif... OMIM:612582
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Lymphopenia, Long fibula, Anemia ORPHA:935
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Autosomal Recessive Cutis Laxa Type 2A
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity ORPHA:357058
Muckle-Wells Syndrome
Episcleritis, Skin rash, Vasculitis, Optic atrophy, Uveitis, Arthritis, Conjunctivitis, Recurrent... ORPHA:575
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Micrognathia, Downslanted palpebral fissures, Short palpebral... OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Scheie Syndrome
Aortic regurgitation, Rhinitis, Corneal opacity ORPHA:93474
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Hurler-Scheie Syndrome
Aortic regurgitation, Corneal opacity, Micrognathia, Mitral regurgitation, Pulmonary arterial hyp... OMIM:607015
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma ORPHA:251038
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, R... OMIM:256800
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Thick eyebrow ORPHA:585
Congenital Myopathy 12
Overlapping fingers, Arachnodactyly, Akinesia, Camptodactyly OMIM:612540
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Tyrosinemia Type 2
Malar flattening, Corneal opacity ORPHA:28378
Moebius Syndrome
Epicanthus, Corneal opacity, Micrognathia, Blepharitis, Ptosis ORPHA:570
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... OMIM:222300
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Ataxia, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular... OMIM:610442
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ectropion, Ocular albinism, Choroideremia, Iris hypopigmentation ORPHA:2719
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph... OMIM:260400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Upslanted palpebral fissur... OMIM:214110
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Chorioretinitis, Arthritis, Ir... OMIM:109650
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia ORPHA:97349
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal... ORPHA:464
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Kindler Epidermolysis Bullosa
Corneal opacity, Abnormal dental enamel morphology, Recurrent skin infections, Carious teeth, Che... ORPHA:2908
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Corneal opacity, Grayish enamel, Carious teeth, Mitral regurgitation, Opac... OMIM:253010
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Lcat Deficiency
Corneal opacity ORPHA:650
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response, Ataxia OMIM:618598
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Akinesia OMIM:619147
Gomez-Lopez-Hernandez Syndrome
Malar flattening, Downslanted palpebral fissures, Opacification of the corneal stroma OMIM:601853
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart f... ORPHA:1830
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T... OMIM:612561
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Abnormal dental enamel morphology, Micrognathia ORPHA:2323
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Corneal opacity, Hypoplasia of the maxilla, Absent eyelashes, Corneal... ORPHA:920
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Epicanthus, Corneal opacity, Eczema, Synophrys, Upslanted palpebral fissur... ORPHA:488632
Congenital Sialidosis Type 2
Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract ORPHA:93400
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis, Developmental cataract OMIM:617044
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Bilateral ptosis, Cardiomyopathy, Mitral regurgitation, Op... OMIM:607014
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... ORPHA:1764
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eye... ORPHA:2396
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Micrognathia, Sparse eyebrow, Synophrys, Buphthalmos, Keratoc... ORPHA:495875
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Walker-Warburg Syndrome
Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Iris coloboma ORPHA:899
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea OMIM:613001
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Epicanthus, Transient ischemic attack, Chorioretinal atrophy, M... OMIM:600268
Mucopolysaccharidosis Type 4
Carious teeth, Corneal opacity, Abnormal dental enamel morphology, Grayish enamel ORPHA:582
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Corneal stro... OMIM:601812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Clinodactyly of... OMIM:618056
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Absent eyebrow, Corneal opacity, Abnormal dental enamel morphology, Eczema, Abnorma... ORPHA:2273
Gm1 Gangliosidosis
Mandibular prognathia, Corneal opacity, Congestive heart failure, Cardiomyopathy, Aspiration pneu... ORPHA:354
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Short finger OMIM:253290
Farber Disease
Arthritis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Lar... ORPHA:728
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Akinesia ORPHA:994
Gaucher Disease, Perinatal Lethal
Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Anemia OMIM:608013
Transketolase Deficiency
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Corneal opacity OMIM:163200
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Mucopolysaccharidosis, Type Vii
Epicanthus, Corneal opacity, Cardiomyopathy, Recurrent otitis media, Thick eyebrow OMIM:253220
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Ab... ORPHA:2556
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cystinosis
Corneal opacity, Portal hypertension ORPHA:213
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Autoimmune Polyendocrinopathy Type 1
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma ORPHA:3453
Stromme Syndrome
Cataract, Sclerocornea, Micrognathia, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Highly arched ... ORPHA:309282
Carpenter Syndrome 1
Epicanthus, Telecanthus, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, M... OMIM:201000
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the temporomandibular joint, Psoriasiform dermatitis, Skin rash,... ORPHA:85436
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... OMIM:608710
Wilson Disease
Kayser-Fleischer ring, Acute hepatitis, Hepatitis, Arthritis ORPHA:905
De Barsy Syndrome
Delayed eruption of teeth, Epicanthus, Cataract, Corneal opacity, Downslanted palpebral fissures ORPHA:2962
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Lathosterolosis
Epicanthus, Cataract, Micrognathia, Microcornea, Opacification of the corneal stroma, Downslanted... ORPHA:46059
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Opacification of the corneal stroma, Hyperopic astigmatism, Aortic regurgi... OMIM:252600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Telecanthus, Corneal opacity, Micrognathia, Synophrys, Cleft mandible, Thin eyebrow, Short palpeb... OMIM:608670
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Hurler Syndrome
Corneal opacity, Angina pectoris, Hypertension, Cardiomyopathy, Rhinitis, Thick eyebrow ORPHA:93473
Mucopolysaccharidosis Type 7
Corneal opacity, Hepatitis ORPHA:584
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short toe, HbH hemoglobin, Talipes equinovarus, Microcytic anemia ORPHA:98791
Hereditary Late-Onset Parkinson Disease
Resting tremor, Shuffling gait, Akinesia, Dystonia ORPHA:411602
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Tricuspid regurgitation, Corneal opacity, Pneumonia, Carious teeth, Ca... OMIM:253200
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Mosaic Trisomy 9
Upslanted palpebral fissure, Corneal opacity, Micrognathia ORPHA:99776
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis OMIM:609454
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Entropion, Telangiectasia of th... ORPHA:910
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Acanthocytosis, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia OMIM:234200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... OMIM:259600
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, A... OMIM:263650
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, Shallow orbits, Abs... ORPHA:740
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals OMIM:210370
Mucopolysaccharidosis Type 1
Sinusitis, Corneal opacity, Congestive heart failure, Chronic otitis media, Hypertrophic cardiomy... ORPHA:579
Chime Syndrome
Epicanthus, Corneal opacity, Supernumerary tooth, Upslanted palpebral fissure, Ptosis ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Micrognathia, Downslanted palpebral ... ORPHA:1052
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Tangier Disease
Corneal opacity, Ectropion ORPHA:31150
Focal Dermal Hypoplasia
Corneal opacity, Abnormal dental enamel morphology, Telangiectasia of the skin, Ectopia lentis, H... ORPHA:2092
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Cataract, Corneal opacity, Synophrys, Atrioventricular block, Reduced ... ORPHA:581
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... ORPHA:42775
Mucopolysaccharidosis Type 6
Chronic otitis media, Sinusitis, Opacification of the corneal stroma ORPHA:583
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Retrognathia OMIM:619869
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Delayed eruption of teeth, Cataract, Corneal opacity, Chorioretinal dyspla... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Micrognathia, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Fucosidosis
Corneal opacity ORPHA:349
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Corneal opacity, Micrognathia, Posterior subcapsular ... ORPHA:536471
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Oculodentodigital Dysplasia
Epicanthus, Cataract, Carious teeth, Uveitis, Microcornea, Taurodontia, Arrhythmia, Blepharophimo... OMIM:164200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Mosaic Trisomy 8
Corneal opacity, Micrognathia ORPHA:96061
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic otitis media, Ch... OMIM:244400
Pseudo-Torch Syndrome 1
Microretrognathia, Cataract, Opacification of the corneal stroma OMIM:251290
Dpagt1-Cdg
Ataxia, Arachnodactyly, Akinesia, Tremor, Inability to walk, Camptodactyly, Clinodactyly, Anemia ORPHA:86309
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Flared iliac wing, Short long bone, Dystonia, F... ORPHA:79255
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Pericarditis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit... ORPHA:32960
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C... ORPHA:810
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma OMIM:313400
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Trismus, Keratoconjunctivitis, Opacification of the ... ORPHA:2907
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent pneumonia, Opacification of the c... OMIM:253000
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Overlapping toe, Hip dislocation, Talipes equinova... OMIM:617301
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, Lymphadenitis, Peritonitis, Th... ORPHA:31204
Fryns Syndrome
Corneal opacity, Micrognathia ORPHA:2059
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Erythrodontia, Loss of eyelashes, Keratoconjunctivitis, Scle... ORPHA:95159
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Micrognathia, Hypoplasia of the iris, Opacification of the corneal stroma, ... OMIM:251300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Cataract, Micrognathia, Brushfield spots, Upslanted palpebral fissure, Opacification ... OMIM:214100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Enamel hypoplasia, Corneal opacity ORPHA:79396
Hallermann-Streiff Syndrome
Natal tooth, Telecanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Congestive heart failur... ORPHA:2108
Leprosy
Absent eyebrow, Epistaxis, Loss of eyelashes, Abnormal facial skeleton morphology, Uveitis, Paral... ORPHA:548
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, Blepharophimo... OMIM:600920
Wolf-Hirschhorn Syndrome
Epicanthus, Sclerocornea, Micrognathia, Highly arched eyebrow, Chronic otitis media, Megalocornea... ORPHA:280
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Seborrheic dermatitis, Micrognathia, Malar flattening, Ptosis OMIM:274000
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, Short thumb, P... ORPHA:124
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Larsen Syndrome
Malar flattening, Corneal opacity, Shallow orbits OMIM:150250
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Congestive heart failure, Bronchiectasis, Pyelonephritis, ... ORPHA:90348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Fraser Syndrome 1
Absent eyebrow, Corneal opacity, Absent eyelashes, Dental malocclusion, Upper eyelid coloboma, La... OMIM:219000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist... ORPHA:845
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Epicanthus, Palpebral edema, Micrognathia, Sparse eyebrow, Congestive heart... OMIM:252500
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Micrognathi... OMIM:614866
Mosaic Trisomy 1
Microretrognathia, Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of ... ORPHA:1692
Leptospirosis
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uv... ORPHA:509
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... OMIM:309801
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Smith-Lemli-Opitz Syndrome
Epicanthus, Cataract, Abnormal dental enamel morphology, Sclerocornea, Micrognathia, Abnormal eye... ORPHA:818
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Ptosis OMIM:615273
Lathosterolosis
Epicanthus, Cataract, Micrognathia, Opacification of the corneal stroma, Downslanted palpebral fi... OMIM:607330
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f... ORPHA:521426
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Neurofibromatosis Type 1
Cataract, Corneal opacity, Abnormal eyelid morphology, Hypertension, Chorioretinal coloboma, Lisc... ORPHA:636
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Corneal opacity, Eczema, Astigmatism, Aortic valve stenosis ORPHA:464306
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor... OMIM:242900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ta... OMIM:301040
Peters Plus Syndrome
Cataract, Corneal opacity, Micrognathia, Microcornea, Upslanted palpebral fissure, Pulmonic steno... ORPHA:709
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Sandhoff Disease
Exaggerated startle response, Ataxia, Hepatosplenomegaly OMIM:268800
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Temporomandibular joint ankylosis, Heart murmur, Arthritis, Cardiomyopathy, Hype... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Temporomandibular joint ankylosis, Heart murmur, Arthritis, Cardiomyopathy, Hype... ORPHA:217093
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hypoplastic ilia, Pa... OMIM:105650
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity ORPHA:464311
Williams Syndrome
Myocardial infarction, Micrognathia, Chronic otitis media, Megalocornea, Abnormal dental enamel m... ORPHA:904
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Talipes equinovarus, Clinodactyly of the 5th finger, Anemia, Brachydactyly ORPHA:847
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Corneal opacity, Bacterial endocarditis, Pulmonary arterial hyp... ORPHA:2072
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stuve-Wiedemann Syndrome 1
Micrognathia, Carious teeth, Pulmonary arterial hypertension, Opacification of the corneal stroma... OMIM:601559
Osteogenesis Imperfecta
Delayed eruption of teeth, Aortic regurgitation, Abnormality of dental color, Corneal opacity, Ab... ORPHA:666
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... ORPHA:79280
Mucopolysaccharidosis Type 2
Corneal opacity, Temporomandibular joint ankylosis, Cardiomyopathy, Hypertension, Hip osteoarthri... ORPHA:580
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Micrognathia, Microcornea, Aplasia/Hyp... ORPHA:564
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long fingers, Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly OMIM:617527
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Dev... OMIM:133540
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Cataract, Corneal opacity, Recurrent skin infections, Entropion, Lagophthalmos, Syno... ORPHA:3455
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Cleft of chin, Buphthalmos, S... OMIM:101400
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Yunis-Varon Syndrome
Cataract, Sparse eyelashes, Sclerocornea, Micrognathia, Abnormality of dental structure, Sparse e... ORPHA:3472
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Micrognathia, Eyelid coloboma, Opacification of the corneal stroma, Sh... OMIM:268300
Digeorge Syndrome
Acne, Sclerocornea, Micrognathia, Seborrheic dermatitis, Blepharophimosis, Recurrent pneumonia, R... OMIM:188400
Gaucher Disease
Osteomyelitis, Corneal opacity, Osteoarthritis, Hepatitis, Pulmonary arterial hypertension ORPHA:355
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Cockayne Syndrome A
Mandibular prognathia, Cataract, Delayed eruption of primary teeth, Carious teeth, Dental maloccl... OMIM:216400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger OMIM:618367
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Large hands OMIM:615574
Wilson Disease
Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged hepatitis OMIM:277900
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
African Trypanosomiasis
Akinesia, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Gait disturbance, Difficulty... ORPHA:3385
Fryns Syndrome
Microretrognathia, Narrow palpebral fissure, Opacification of the corneal stroma, Blepharophimosis OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Micrognathia, Buphthalmos, Opacification of the corneal stroma, Malar flattening, Megal... OMIM:253280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Microphthalmia, Syndromic 6
Sclerocornea, Micrognathia, Orbital cyst, Microcornea, Retrognathia OMIM:607932
Branchiooculofacial Syndrome
Telecanthus, Cataract, Micrognathia, Cleft of chin, Nasolacrimal duct obstruction, Upslanted palp... OMIM:113620
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Yunis-Varon Syndrome
Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Micrognathia, Sparse eyebrow, Hypoplastic f... OMIM:216340
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Hip dysplasia, Dystonia, Anemia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287

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 Limk2

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 Limk2.

No publications found that use IMPC mice or data for Limk2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Limk2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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