Gene Summary

Name:
LIM motif-containing protein kinase 2
Synonyms:
A930024P04Rik,  LIM kinase 2,  whe,  Limk2a,  Limk2b

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating sodium level Limk2tm1a(EUCOMM)Wtsi HET Early adult 1.20×10-06
increased mean corpuscular hemoglobin concentration Limk2tm1a(EUCOMM)Wtsi HET Early adult 5.16×10-05
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
increased body length Limk2tm1a(EUCOMM)Wtsi HET Early adult 3.65×10-07
increased startle reflex Limk2tm1a(EUCOMM)Wtsi HET Early adult 1.52×10-14

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
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Corneal opacity, Los... ORPHA:163934
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Retinal Venous Beading
Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunct... OMIM:180080
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal arter... OMIM:193220
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Abnormal size of the palpebral fissures, Delayed eruption of teeth, Iris coloboma, Taurodontia, I... ORPHA:3214
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Orbital cyst OMIM:251505
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Ptosis, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract ORPHA:1067
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Distal Monosomy 6P
Micrognathia, Posterior embryotoxon, Hypoplasia of the iris, Epicanthus, Downslanted palpebral fi... ORPHA:96125
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... OMIM:608470
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Cataract, Corneal neovasculariz... OMIM:278730
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Ptosis, Bilateral ptosis, Hypopla... OMIM:106210
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Galactosialidosis
Corneal opacity ORPHA:351
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Morquio Syndrome C
Corneal opacity OMIM:252300
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Thyroiditis, Corneal neovascularization OMIM:617388
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Winchester Syndrome
Corneal opacity OMIM:277950
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Micrognathia, Ectropion, Recurrent otitis media, Downslanted palpebral fissures, ... OMIM:602562
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Conjunctivitis ORPHA:411777
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Retinal arteritis, Hypopyon, Posterior uveitis, Corneal keratic precipita... ORPHA:209959
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Melena, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cataract, Opacificatio... OMIM:158310
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Rutherfurd Syndrome
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Delayed eruption of ... OMIM:180900
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Micrognathia, Ankyloblepharon, Antecubital pterygium, Corneal opacity, Axill... OMIM:619339
Chromosome 8Q21.11 Deletion Syndrome
Micrognathia, Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Opacif... OMIM:614230
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Microphthalmia, Isolated 3
Sclerocornea, Ankyloblepharon OMIM:611038
Intermediate Uveitis
Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis, Optic neuritis, Vasculit... ORPHA:279914
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Gómez-López-Hernández Syndrome
Corneal opacity, Telecanthus ORPHA:1532
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Comedonal acne, Retinal dystrophy, Iris coloboma, Absent foveal refle... OMIM:615147
Tietz Syndrome
Abnormal anterior chamber morphology, White eyebrow ORPHA:42665
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Kid Syndrome
Keratoconjunctivitis sicca, Psoriasiform dermatitis, Sparse eyelashes, Folliculitis, Corneal eros... ORPHA:477
Oculomaxillofacial Dysostosis
Micrognathia, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opacity, Sparse or... ORPHA:1794
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Telecanthus, Posterior subcapsular cataract OMIM:615458
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... OMIM:612109
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... ORPHA:94093
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Mandibular prognathia, Upslanted palpebral fissure, Myopic astigmatism, Chorioretinal dysplasia, ... OMIM:152950
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Telecanthus, Sparse eyebrow, Lacrimal pu... ORPHA:2399
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Acne ORPHA:577
Pyruvate Carboxylase Deficiency
Dystonia, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood... ORPHA:3008
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse and thin eyebrow, Corneal opacity, Blepharitis OMIM:602400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Pneumonia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnor... ORPHA:247691
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Carious teeth, Lacrimal gland aplasia, Absent lacrimal punctum, Micro... ORPHA:2363
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Short Syndrome
Posterior embryotoxon, Hypoplasia of the iris, Telecanthus, Malar flattening, Abnormal dental ena... ORPHA:3163
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Micrognathia, Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma ORPHA:1064
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Retinal neovascularization OMIM:619074
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis, Sclerocornea, Iris coloboma, Microcornea, Ocular anterior segme... OMIM:615145
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Webb-Dattani Syndrome
Hip dislocation, Hypernatremia OMIM:615926
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Bartsocas-Papas Syndrome
Popliteal pterygium, Micrognathia, Ankyloblepharon, Corneal opacity, Sparse or absent eyelashes, ... ORPHA:1234
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Idiopathic Panuveitis
Conjunctival hyperemia, Choroidal neovascularization, Posterior synechiae of the anterior chamber... ORPHA:280921
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Corneal opacity, Megalocornea, Obtuse angle of mandible ORPHA:2741
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Ectropion, Corneal dystrophy, Keratitis, Sparse and thin eyebrow,... OMIM:308800
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Corneal opacity, Aortic valve stenosis OMIM:607016
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... OMIM:618815
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Micrognathia, Blepharophimosis, Short palpebral fissure OMIM:113470
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Long eyelashes, Epicanthus, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
8Q21.11 Microdeletion Syndrome
Micrognathia, Eczema, Ptosis, Sclerocornea, Epicanthus, Downslanted palpebral fissures, Corneal o... ORPHA:284160
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia OMIM:618426
Warburg-Cinotti Syndrome
Decreased corneal thickness, Narrow palpebral fissure, Symblepharon, Epicanthus, Limbal stem cell... OMIM:618175
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Mannosidosis
Mandibular prognathia, Chronic otitis media, Arthritis, Craniofacial hyperostosis, Corneal opacit... ORPHA:61
Central Diabetes Insipidus
Hyponatremia, Lethargy ORPHA:178029
Sjogren-Larsson Syndrome
Enamel hypoplasia, Opacification of the corneal epithelium OMIM:270200
Posttransplant Acute Limbic Encephalitis
Dystonia, Hyponatremia, Ataxia ORPHA:163921
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Isolated Congenital Alacrima
Corneal erosion, Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypopl... ORPHA:91416
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber ORPHA:280914
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Upslanted palpebral fissure, Co... ORPHA:496790
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal irregularity, Flattene... ORPHA:93356
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Myeloproliferative disorder, Increased erythrocyte protoporphyrin concentration, Di... ORPHA:100924
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Erythrokeratodermia Variabilis
Corneal opacity, Cataract, Skin rash ORPHA:317
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Posterior embryotoxon, Ptosis, Chronic otitis media, Upslanted palpe... ORPHA:567
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Short phalanx of finger, Short long bone, Flat acetabular ... OMIM:300106
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Alg8-Cdg
Hyponatremia, Talipes equinovarus, Anemia, Ataxia, Camptodactyly, Thrombocytopenia, Brachydactyly ORPHA:79325
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Chorioretinal coloboma, Aplasia/Hypoplasia of the iris ORPHA:137902
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Anterior chamber synechiae, Knee osteoarthritis, Uveitis, Rheumatoid arthritis, C... ORPHA:85410
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Keratitis, Retinal vasculitis, Retinal detachment, Scleritis, V... OMIM:107320
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hurler-Scheie Syndrome
Rhinitis, Corneal opacity, Cardiomyopathy ORPHA:93476
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anterior chamber synechiae, Telecanthus, Opacification of the corneal stro... OMIM:601499
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, ... OMIM:175780
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... ORPHA:682
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Anteri... ORPHA:137596
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Mirage Syndrome
Hyperkalemia, Hyponatremia, Radial club hand, Leukopenia, Talipes equinovarus, Rocker bottom foot... OMIM:617053
Proboscis Lateralis
Nasolacrimal duct obstruction, Iris coloboma, Eyelid coloboma, Abnormal paranasal sinus morpholog... ORPHA:141099
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... ORPHA:85188
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Skin rash ORPHA:290
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Arthritis, Skin rash, Conjunctivitis OMIM:120100
Lowry-Maclean Syndrome
Micrognathia, Talon cusp, Downslanted palpebral fissures, Delayed eruption of primary teeth, Corn... ORPHA:2409
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Bilateral ptosis, Lagopthalmos, Corneal neovascularization ORPHA:404454
Hartsfield Syndrome
Syndactyly, Ectrodactyly, Hypernatremia OMIM:615465
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse eyelashes, Downslanted palpebral fissures, Distichiasis, Cataract, Opacification of the co... OMIM:211370
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal cupping, Irregular tarsal bones, Talipes equinovarus, Short finger, Flared iliac wing... OMIM:250220
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoglobus, Epicanthus, Abnormal cornea morphology, Keratoconus OMIM:229200
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology, Astigmatism, Hypoplasia of the m... ORPHA:2095
Hurler-Scheie Syndrome
Micrognathia, Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension, Cornea... OMIM:607015
Zellweger Syndrome
Micrognathia, Posterior embryotoxon, Upslanted palpebral fissure, Brushfield spots, Epicanthus, C... ORPHA:912
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract, Pneumonia, Heart murmur ORPHA:1867
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Neutropenia, Thrombocytopenia, Lethargy ORPHA:391673
Fish-Eye Disease
Corneal opacity, Angina pectoris ORPHA:79292
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Opacification of the corneal stroma, Megalocornea OMIM:164900
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Posterior uveitis, Choroidal neovascularization, Chorioretinal scar... ORPHA:91500
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytop... ORPHA:167
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Al-Gazali Syndrome
Sclerocornea, Micrognathia, Corneal opacity, Recurrent pneumonia OMIM:609465
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Blepharitis, Iritis, Hyphema ORPHA:158000
Tubulointerstitial Nephritis With Uveitis
Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulointerstitial nephritis OMIM:607665
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy ORPHA:427
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Sialidosis Type 2
Corneal opacity ORPHA:87876
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion, Ectropion OMIM:205400
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma, Angina pectoris ORPHA:425
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Linear Verrucous Nevus Syndrome
Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea ORPHA:2611
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Hyperuricemia, Eosinophilia, L... ORPHA:199299
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Large vessel vasculitis, Vasculitis, Uveitis, Scle... ORPHA:1467
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Thin eyebrow, Telecanthus, Short palpebral fissure, Corneal opacity,... ORPHA:364577
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
3Mc Syndrome 3
Highly arched eyebrow, Ptosis, Corneal opacity, Epicanthus inversus, Blepharophimosis OMIM:248340
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Developmental cataract, Corneal opacity OMIM:616603
Oculocerebrocutaneous Syndrome
Iris coloboma, Eyelid coloboma, Corneal opacity, Ptosis ORPHA:1647
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... ORPHA:90038
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Ptosis OMIM:618283
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Hypernatremia, T lymphocytopenia, Anemi... OMIM:619381
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Whipple Disease
Ataxia, Hyponatremia, Anemia, Splenomegaly ORPHA:3452
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Blau Syndrome
Hypertension, Eczema, Pericarditis, Synovitis, Arthritis, Nongranulomatous uveitis, Uveitis, Cyst... OMIM:186580
Cholera
Hyponatremia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Lethargy ORPHA:173
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Opisthotonus OMIM:250800
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Hem... ORPHA:91495
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratoconjunctivitis sicca, Sparse eyelashes, Trichiasis, Corneal scarring, Abnormality of cornea... OMIM:148210
Legionnaires Disease
Hyponatremia, Ataxia, Lymphopenia, Splenomegaly ORPHA:549
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Downslanted palpebral fissures, Pulmonic stenosis, Corneal opacity, Retrognathia, As... OMIM:301056
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the metaphysis, Long fibula, Anemia, Lymphopenia ORPHA:935
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea ORPHA:139471
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Talipes equinovarus, Hypocholesterolemia, Long fingers, Proximal... ORPHA:79324
3Q29 Microduplication Syndrome
Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma, Cataract ORPHA:251038
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Osteomyelitis, Corneal ulceration, Postural hypotension with compens... OMIM:256800
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Abnormal corneal endothelium morphology, Chorioretin... ORPHA:364055
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Abnormal anterior chamber ... OMIM:613001
Scheie Syndrome
Rhinitis, Aortic regurgitation, Corneal opacity ORPHA:93474
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Corneal opacity, Cataract, Pneumonia ORPHA:309288
Muckle-Wells Syndrome
Optic atrophy, Episcleritis, Arthritis, Vasculitis, Uveitis, Skin rash, Recurrent aphthous stomat... ORPHA:575
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Tyrosinemia Type 2
Corneal opacity, Malar flattening ORPHA:28378
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Multiple Sulfatase Deficiency
Corneal opacity, Thick eyebrow, Cataract ORPHA:585
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Upslanted palpebral fissure, Brushfield spots, Epicanthus, Palpebral edema, Catarac... OMIM:214110
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Irregular epiphyses, Small epiphyses, Metaphyseal irregularity, Long fibula, Narrow iliac wing, A... OMIM:610442
Moebius Syndrome
Micrognathia, Ptosis, Epicanthus, Corneal opacity, Blepharitis ORPHA:570
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Ectropion, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:2719
Behcet Syndrome
Hypopyon, Chorioretinitis, Epididymitis, Arthritis, Raynaud phenomenon, Iridocyclitis, Iritis, Er... OMIM:109650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Abnormal calcification of the carpal bones, Metat... OMIM:271665
Japanese Encephalitis
Hyponatremia, Dystonia, Opisthotonus, Talipes equinovarus, Tremor, Neutrophilia, Pill-rolling tremor ORPHA:79139
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Posterior embryotoxon, Axenfeld anomaly, Telecanthus, Peters anomaly, Downslanted... OMIM:612582
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Shwachman-Diamond Syndrome 1
Proximal femoral metaphyseal irregularity, Neutropenia, Proximal femoral epiphysiolysis, Metaphys... OMIM:260400
Porphyria Variegata
Hyponatremia, Anemia, Abnormal circulating porphyrin concentration ORPHA:79473
Kindler Epidermolysis Bullosa
Carious teeth, Inflammation of the large intestine, Ectropion, Cheilitis, Esophagitis, Abnormal d... ORPHA:2908
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Brushfield spots, Epicanthus, Cataract, Palpebral edema, Opacification of the corne... OMIM:614866
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Long fibula, Rhizomelic arm shortening, Iliac crest serration, Short metac... ORPHA:93317
Incontinentia Pigmenti
Infectious encephalitis, Pulmonary arterial hypertension, Abnormal dental enamel morphology, Tela... ORPHA:464
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Diabetes mellitus, Hypothyroidism, Hydrou... OMIM:222300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Sanjad-Sakati Syndrome
Astigmatism, Micrognathia, Corneal opacity, Abnormal dental enamel morphology ORPHA:2323
Lcat Deficiency
Corneal opacity ORPHA:650
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Tall stature ORPHA:361
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Sialidosis Type 1
Corneal opacity, Cataract ORPHA:812
Schimke Immuno-Osseous Dysplasia
Hypertension, Abnormality of primary molar morphology, Minimal change glomerulonephritis, Pulmona... ORPHA:1830
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response, Overlapping toe OMIM:618598
Tbck-Related Intellectual Disability Syndrome
Eczema, Mandibular prognathia, Upslanted palpebral fissure, Epicanthus, Pulmonic stenosis, Cornea... ORPHA:488632
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Increased circulatin... ORPHA:95409
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Iris coloboma, Abnormal eyelid morphology, Corneal opacity, Abno... ORPHA:2396
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Broad eyebrow, Buphthalmos, Micrognathia, Long eyelashes, Sparse eyeb... ORPHA:495875
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Ablepharon Macrostomia Syndrome
Corneal erosion, Hypoplasia of the zygomatic bone, Absent eyebrow, Absent eyelashes, Corneal opac... ORPHA:920
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Shigellosis
Hyponatremia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia, Thrombocytopenia,... ORPHA:810
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Bowing of the long bones, Splenom... ORPHA:231226
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Malar flattening, Downslanted palpebral fissures OMIM:601853
Congenital Sialidosis Type 2
Telangiectasia, Developmental cataract, Corneal opacity, Cataract, Abnormal EKG ORPHA:93400
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
Familial Dysautonomia
Hypertension, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia iridis, Abnorm... ORPHA:1764
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of th... ORPHA:231214
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:899
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Eczema, Thin eyebrow, Corneal erosion, Episcleritis, Cheilitis, Absent eyebrow, Abnormal dental e... ORPHA:2273
Mucopolysaccharidosis Type 4
Carious teeth, Corneal opacity, Abnormal dental enamel morphology, Grayish enamel ORPHA:582
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... ORPHA:231222
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Gm1 Gangliosidosis
Infectious encephalitis, Mandibular prognathia, Cardiomyopathy, Corneal opacity, Congestive heart... ORPHA:354
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Subaortic Stenosis--Short Stature Syndrome
Epicanthus, Malar flattening, Opacification of the corneal stroma, Microcornea, Hypoplasia of the... OMIM:271960
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic regurgitation, Aortic valve stenosis OMIM:252605
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... ORPHA:727
Infant Botulism
Hyponatremia ORPHA:178478
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K... ORPHA:728
Sheehan Syndrome
Hyponatremia, Normochromic anemia, Obesity ORPHA:91355
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Pituitary Apoplexy
Hyponatremia, Normochromic anemia ORPHA:95613
Transketolase Deficiency
Seborrheic dermatitis, Uveitis, Cataract, Conjunctivitis ORPHA:488618
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Micrognathia, Posterior embryotoxon, Mitral ... ORPHA:2556
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Absent eyebrow, Absent eyelashes, Keratitis, Opacification of the corneal stroma, R... OMIM:308205
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Hypercholeste... ORPHA:275761
Panhypophysitis
Hyponatremia, Normochromic anemia ORPHA:95513
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Wilson Disease
Hepatitis, Kayser-Fleischer ring, Arthritis, Acute hepatitis ORPHA:905
Mucopolysaccharidosis, Type Vii
Corneal opacity, Thick eyebrow, Cardiomyopathy, Recurrent otitis media OMIM:253220
Juvenile Sialidosis Type 2
Corneal opacity, Cataract ORPHA:93399
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Thiamine-responsive megaloblastic a... ORPHA:85138
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract, Chronic mucocutaneous candidiasis ORPHA:3453
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Corneal opacity OMIM:163200
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... ORPHA:324
Ocular Cystinosis
Corneal crystals ORPHA:411641
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Cystinosis
Portal hypertension, Corneal opacity ORPHA:213
Farber Disease
Abnormal conjunctiva morphology, Opacification of the corneal stroma, Corneal opacity, Arthritis ORPHA:333
Granulomatosis With Polyangiitis
Conjunctivitis, Sinusitis, Episcleritis, Chronic otitis media, Keratitis, Uveitis, Diffuse alveol... OMIM:608710
Lathosterolosis
Micrognathia, Ptosis, Epicanthus, Downslanted palpebral fissures, Cataract, Opacification of the ... ORPHA:46059
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Abnormality of epiphysis morphology, Hypophosphatemia, Anemia, Abnorma... ORPHA:534
Oculoectodermal Syndrome
Limbal dermoid, Microcornea, Hypertrophic cardiomyopathy, Epicanthus, Astigmatism, Transient isch... OMIM:600268
Diphallia
Hypospadias, Horseshoe kidney, Ureteral duplication, Bifid scrotum, Ectopic scrotum, Rectoperinea... ORPHA:227
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Micrognathia, Thin eyebrow, Telecanthus, Short palpebral fissure, Corneal opacity, Cleft mandible... OMIM:608670
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Opacification of the corneal stroma, Aortic regurgitation, Hyperopic astig... OMIM:252600
Van Den Ende-Gupta Syndrome
Sclerocornea, Malar flattening, Abnormal eyebrow morphology, Hypoplasia of the maxilla, Blepharop... OMIM:600920
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stromme Syndrome
Micrognathia, Sclerocornea, Peters anomaly, Iris coloboma, Cataract, Microcornea OMIM:243605
Alpha-Mannosidosis, Infantile Form
Highly arched eyebrow, Mitral regurgitation, Pneumonia, Mandibular prognathia, Aortic regurgitati... ORPHA:309282
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Holoprosencephaly
Dystonia, Hyponatremia, Abnormality of the spleen, Hand polydactyly, Brachydactyly ORPHA:2162
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atrioventricular block, Suprave... ORPHA:137675
Carpenter Syndrome 1
Micrognathia, Telecanthus, Epicanthus, Malar flattening, Pulmonic stenosis, Persistence of primar... OMIM:201000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Talipes equinovarus, Short toe ORPHA:98791
Acute Intermittent Porphyria
Tremor, Hyponatremia ORPHA:79276
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovarus, Radial de... OMIM:141750
Mucopolysaccharidosis Type 7
Hepatitis, Corneal opacity ORPHA:584
Hurler Syndrome
Hypertension, Rhinitis, Cardiomyopathy, Corneal opacity, Thick eyebrow, Angina pectoris ORPHA:93473
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... ORPHA:85436
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Microretrognathia, Cataract OMIM:251290
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Mosaic Trisomy 9
Upslanted palpebral fissure, Micrognathia, Corneal opacity ORPHA:99776
Hutchinson-Gilford Progeria Syndrome
Mitral stenosis, Delayed eruption of teeth, Raynaud phenomenon, Transient ischemic attack, Aortic... ORPHA:740
Hurler Syndrome
Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Corneal opacity, Opacification of the... OMIM:607014
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Peripheral opacification of the cornea, Delayed eruption of teeth, Corneal opacity,... OMIM:259600
De Barsy Syndrome
Epicanthus, Downslanted palpebral fissures, Delayed eruption of teeth, Corneal opacity, Cataract ORPHA:2962
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Xeroderma Pigmentosum
Telangiectasia, Ectropion, Ankyloblepharon, Conjunctival telangiectasia, Telangiectasia of the sk... ORPHA:910
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Pneumonia, Bronchiectasis, Recurrent otitis media, Arthritis... OMIM:614700
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Mucopolysaccharidosis Type 1