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Gene: Lgr4 MGI:1891468

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
leucine-rich repeat-containing G protein-coupled receptor 4
Synonyms:
Gpr48,  A930009A08Rik,  A330106J01Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lgr4 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.

The table below shows human diseases associated to Lgr4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Delayed puberty OMIM:619613

The table below shows human diseases predicted to be associated to Lgr4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
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
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Inflamm... ORPHA:39044
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Retinal vein occlusion, Pseud... OMIM:177650
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Short stature, Aplasia... ORPHA:290
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract, Miosis OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Large for gestational age ORPHA:2432
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, A... OMIM:204000
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Short stature, Decreased testicular size ORPHA:436144
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo... ORPHA:65
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Cataract 44
Developmental cataract OMIM:616509
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Mucolipidosis Iv
Cerebellar atrophy, Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Retinal ... OMIM:252650
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal memb... ORPHA:279914
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Cataract, Short stature, Macular atrophy, Optic atrophy, C... OMIM:616171
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate sho... ORPHA:85194
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Short stature, Obesity ORPHA:893
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract-Ataxia-Deafness-Retardation Syndrome
Short stature, Developmental cataract OMIM:212710
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract OMIM:615995
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Dermoids Of Cornea
Corneal opacity OMIM:304730
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Microphthalmia, Syndromic 13
Short stature, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Nathalie Syndrome
Arrhythmia, Cataract, Short stature ORPHA:2663
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decreased corneal thickne... OMIM:614170
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation, Short stature ORPHA:2090
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Short Syndrome
Severe short stature, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morph... ORPHA:3163
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Winchester Syndrome
Corneal opacity OMIM:277950
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Short stature, Opacification of the corneal stroma ORPHA:1643
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... ORPHA:280921
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Cataract, Small for gestational age OMIM:278780
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Miosis, Hypoplasia of the iris, Chorioretinal coloboma, Intrauterine growth... ORPHA:1422
Dysequilibrium Syndrome
Cataract, Short stature ORPHA:1766
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Short stature, Microcornea, Growth delay, Microphthalmia ORPHA:2528
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Abnormally prominent line of ... OMIM:109120
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Distal Deletion 6P
Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechiae... ORPHA:96125
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Developmental cataract, Retinal dysplasia, Microphthalmia, Ocular anteri... ORPHA:324416
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Failure to th... ORPHA:411629
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Microphthalmia, Cere... ORPHA:1466
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Anterior Segment Dysgenesis 6
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... OMIM:617315
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Cataract 42
Cataract, Developmental cataract OMIM:115900
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat... OMIM:271630
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Umbilical hernia, Iris c... OMIM:222448
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Spastic Paraparesis And Deafness
Cataract, Short stature OMIM:312910
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Cataract OMIM:617133
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Growth delay, Microphthalmia, F... ORPHA:1617
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht... OMIM:212550
Pelvis-Shoulder Dysplasia
Short stature, Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bi... OMIM:169550
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Periodontitis, Otitis media with effusion... ORPHA:2791
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:291
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Short stature, Opacification of the corneal stroma OMIM:230650
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Short stature, Hypospadias, U... ORPHA:261529
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature ORPHA:2815
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Gillespie Syndrome
Hypoplasia of the iris, Cerebellar atrophy, Aniridia OMIM:206700
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Short stature, Keratoglobus, Astigmatism, Retin... OMIM:108145
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Enlarged uterus ORPHA:99927
Aniridia 3
Aniridia, Cataract OMIM:617142
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Short stature, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior... ORPHA:2479
Neuhauser Syndrome
Iridodonesis, Short stature, Hypoplasia of the iris, Megalocornea, Cerebral cortical atrophy OMIM:249310
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Ao... OMIM:614819
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... ORPHA:90354
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Mydriasis ORPHA:247815
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Growth delay, Keratoconjunctivitis sicca, Punctate keratitis, Failure to th... OMIM:617388
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Growth delay OMIM:244600
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat... OMIM:270200
Gómez-López-Hernández Syndrome
Corneal opacity, Short stature ORPHA:1532
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Severe short stature, Optic disc coloboma OMIM:600092
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Grow... ORPHA:782
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Short stature, Abnormal vitreous humor morphology, Exudative... ORPHA:2788
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia o... ORPHA:3378
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Short stature ORPHA:2370
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Cataract, Chorioretinal coloboma ORPHA:2489
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Intestinal Botulism
Mydriasis ORPHA:178481
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Trichomegaly
Cataract OMIM:190330
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Cataract, Small for gestational age, Short stature, Optic atrophy, Cerebral a... OMIM:251300
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Severe postnatal growth retardation, Abnormal optic disc morphology, Decreased cor... ORPHA:293967
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent... OMIM:204200
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Mucolipidosis Type Iii
Short stature, Corneal opacity, Acne ORPHA:577
Cat-Eye Syndrome
Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retarda... ORPHA:195
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... ORPHA:163934
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Weill-Marchesani Syndrome 4
Iridodonesis, Short stature, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the... OMIM:613195
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Partington Syndrome
Macroorchidism ORPHA:94083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Cataract, Corneal opacity OMIM:613153
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Severe short stature, Opacification o... OMIM:256540
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Short stature ORPHA:85288
Infant Botulism
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media, Mydr... ORPHA:178478
Galactosemia Iv
Cataract OMIM:618881
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycori... OMIM:175780
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Severe short stature ORPHA:2278
Sialidosis Type 2
Umbilical hernia, Short stature, Corneal opacity, Abnormal macular morphology ORPHA:87876
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Pyknoachondrogenesis
Stillbirth OMIM:265880
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Short Syndrome
Rieger anomaly, Cataract, Small for gestational age, Birth length less than 3rd percentile, Astig... OMIM:269880
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization, Chronic rhinitis OMIM:615225
Nail-Patella Syndrome
Keratoconus, Cataract, Short stature, Glomerulonephritis, Spina bifida, Antecubital pterygium, Mi... OMIM:161200
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Microphthalmia ORPHA:627
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Erythrokeratodermia Variabilis
Cataract, Skin rash, Corneal opacity, Short stature, Weight loss ORPHA:317
Nathalie Syndrome
Growth delay, Abnormal EKG, Cataract OMIM:255990
Warburg Micro Syndrome 1
Short stature, Optic atrophy, Cerebral atrophy, Developmental cataract, Microcornea, Microphthalm... OMIM:600118
Galactosemia Ii
Cataract OMIM:230200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature ORPHA:139474
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,... OMIM:615147
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Short stature, Cataract OMIM:614284
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Harel-Yoon Syndrome
Cerebellar atrophy, Corneal opacity, Optic atrophy, Developmental cataract, Hypertrophic cardiomy... OMIM:617183
Spermatogenic Failure 17
Male infertility OMIM:617214
Atkin-Flaitz Syndrome
Macroorchidism, Short stature ORPHA:1193
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Developmental cataract, Abnormal left ventricular function, Card... OMIM:613155
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... ORPHA:485
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Hypopigmentation of t... OMIM:611584
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Short stature, Opacification of the corneal stroma OMIM:252605
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Foodborne Botulism
Arrhythmia, Mydriasis ORPHA:228371
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth... ORPHA:85410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Short stature ORPHA:1064
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Inhalational Botulism
Mydriasis ORPHA:254504
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Short stature, Hyperopic astigmatism, Opacification of the corneal stroma, ... OMIM:252600
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Developmental And Epileptic Encephalopathy 35
Cataract, Cerebral atrophy, Cardiomyopathy, Brain atrophy, Intrauterine growth retardation OMIM:616647
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Dubowitz Syndrome
Short stature, Eczema, Postnatal growth retardation, Hypoplasia of the iris, Otitis media, Microp... OMIM:223370
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Short stature ORPHA:1380
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Cockayne Syndrome B
Severe short stature, Small for gestational age, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Miller Fisher Syndrome
Anisocoria, Facial palsy, Mydriasis ORPHA:98919
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Short stature, Microcornea, Microphthalmia, Cerebral cortical atrophy, Abnormality of p... ORPHA:48431
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Short stature, Hypertension ORPHA:3156
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy OMIM:617255
Hurler-Scheie Syndrome
Corneal opacity, Short stature, Cardiomyopathy, Rhinitis, Abnormal nerve conduction velocity ORPHA:93476
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma ORPHA:521445
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,... OMIM:615542
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Optic atrophy ORPHA:401777
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Pneumonia, Chronic otitis media ORPHA:169090
Focal Dermal Hypoplasia
Corneal opacity, Telangiectasia of the skin, Spina bifida, Ectopia lentis, Hypoplasia of the iris... ORPHA:2092
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Severe short stature, Short stature, Growth delay, Truncal obesity, Decreased bod... OMIM:270450
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Delayed pub... ORPHA:496790
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Cystinosis, Nephropathic
Failure to thrive in infancy, Short stature, Retinal pigment epithelial mottling, Cerebral atroph... OMIM:219800
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short stature OMIM:300261
Juvenile Nephropathic Cystinosis
Hypovolemia, Growth delay, Abnormal cornea morphology, Corneal crystals, Failure to thrive ORPHA:411634
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... ORPHA:225
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Trisomy 12P
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Short stature ORPHA:1699
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Optic disc pallor, Cataract OMIM:613730
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Opacification of the corneal stroma OMIM:215250
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Mydriasis ORPHA:43116
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Kahrizi Syndrome
Cataract, Short stature, Iris coloboma OMIM:612713
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... ORPHA:233
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Developmental cataract ORPHA:1383
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Microtriplication 11Q24.1
Keratoconus, Short stature, Obesity ORPHA:289522
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Leukocoria,... ORPHA:2714
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Marfan Syndrome
Retinal detachment, Flat cornea, Arthralgia/arthritis, Cachexia, Lens luxation, Ectopia lentis, C... ORPHA:558
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Renal Cysts And Diabetes Syndrome
Hypospadias, Exocrine pancreatic insufficiency, Renal cyst, Hypoplasia of the uterus, Bicornuate ... OMIM:137920
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Growth delay, Cataract, Short stature, Band keratopathy OMIM:604278
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the testes ORPHA:3055
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Short stature, Vitreoretinopathy, Astigmatism ORPHA:250984
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Pneumonia... ORPHA:309288
Oliver-Mcfarlane Syndrome
Central heterochromia, Severe short stature, Small for gestational age, Pigmentary retinopathy, D... OMIM:275400
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Anopht... ORPHA:899
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Wagro Syndrome
Cataract, Corneal opacity, Obesity, Hypertension, Aniridia OMIM:612469
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Short stature, Facial palsy, Optic atrophy, Cerebral atrophy, Growth delay, My... OMIM:259720
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Pigmentary retinopathy, Umbilical hernia, Axenfeld anomaly, Opacification of the ... OMIM:612582
Nephroblastoma
Aniridia, Hypertension, Weight loss ORPHA:654
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Short stature, Decreased body weight OMIM:618392
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcornea, Mi... OMIM:610125
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Short stature, Asteroid hyalosis OMIM:132450
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Tricuspid regurgitation, Corneal dystrophy, Abnormal vitreous humor morphology, Mit... ORPHA:1101
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Optic atrophy, Abn... ORPHA:585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... OMIM:617056
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Micropenis, Short stature, Infertility ORPHA:261524
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Blue irides, Hypoplastic iris stroma, Heterochromia iridis, Hypop... OMIM:193500
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Developmental cataract, Growth delay, Microphthalmia, Intrau... OMIM:610756
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Sialidosis Type 1
Cataract, Corneal opacity, Short stature, Decreased nerve conduction velocity, Cherry red spot of... ORPHA:812
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Galactose Epimerase Deficiency
Growth delay, Cataract, Weight loss ORPHA:79238
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Growth delay, Cerebral atrophy, Cataract, Cerebellar vermis atrophy OMIM:616154
Martsolf Syndrome 2
Cataract, Short stature, Developmental cataract, Brain atrophy, Decreased body weight OMIM:619420
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia, Short stature, Heart murmur, Growth delay ORPHA:1867
Autoimmune Polyendocrinopathy Type 1
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma ORPHA:3453
Craniotubular Dysplasia, Ikegawa Type
Short stature, Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis OMIM:619727
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Short stature ORPHA:3077
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, A... OMIM:256800
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Decreased testicula... ORPHA:261483
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Short stature, Cerebral atrophy, Conjunctivitis, Erythroderma, Failure to thrive OMIM:242150
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Narrow palpebral fissure, Stillbirth, Neonatal d... OMIM:236500
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto... ORPHA:892
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract, Cerebral atrophy OMIM:617393
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract OMIM:136300
Intestinal Dysmotility Syndrome
Failure to thrive, Cataract, Weight loss OMIM:620045
Mucopolysaccharidosis Type 6
Sinusitis, Disproportionate short-trunk short stature, Opacification of the corneal stroma, Chron... ORPHA:583
Alagille Syndrome
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Spina bifi... ORPHA:52
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Miscarriage, Infertility OMIM:136580
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Short stature OMIM:257910
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... OMIM:618175
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Postnatal growth retardation, Disproportionate short-trunk short stature, Opa... OMIM:313400
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
1Q21.1 Microduplication Syndrome
Failure to thrive, Cataract ORPHA:250994
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Tangier Disease
Facial diplegia, Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Microp... OMIM:618805
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agyria OMIM:300067
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Cerebral cortical atrophy ORPHA:3173
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... OMIM:614922
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Lissencephaly 5
Occipital encephalocele, Cataract, Optic atrophy OMIM:615191
Pierpont Syndrome
Microcornea, Microphthalmia, Small for gestational age, Atrophy/Degeneration affecting the centra... ORPHA:487825
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Cataract, Short stature ORPHA:1373
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Eczema, Optic atrophy, Microphthalmia, Failure to thrive OMIM:612379
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Short stature ORPHA:1794
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Optic atrophy, Abn... ORPHA:370959
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Umbilical hernia, Anterior chamber synechiae, Opacification of the corneal stroma OMIM:601499
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Failure to thrive, Cataract, Iris hypopigmentation ORPHA:67048
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris... OMIM:218340
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebellar atrophy, Short stature, Optic atrophy, Deve... OMIM:615663
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Alexander Disease
Microcoria OMIM:203450
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Tubulointerstitial nephritis, Posterior uveitis, Papilledema, Anter... ORPHA:91500
Pseudo-Torch Syndrome 1
Umbilical hernia, Failure to thrive, Cataract, Opacification of the corneal stroma OMIM:251290
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Cataract OMIM:618379
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Farber Disease
Corneal opacity, Short stature, Macular degeneration, Abnormal conjunctiva morphology, Arthritis,... ORPHA:333
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Short stature, Microcornea, Iris transillumination defect, Decreased body weight, Micro... OMIM:617306
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Arachnoid Cyst
Encephalocele, Facial palsy, Subarachnoid hemorrhage, Cranial nerve compression, Mydriasis ORPHA:2356
Marfan Syndrome
Aortic regurgitation, Retinal detachment, Cataract, Tricuspid regurgitation, Ectopia lentis, Cong... OMIM:154700
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Cystinosis
Short stature, Corneal opacity, Portal hypertension, Delayed puberty, Failure to thrive, Retinopathy ORPHA:213
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Stickler Syndrome Type 1
Retinal detachment, Osteoarthritis, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con... OMIM:615986
Warburg Micro Syndrome 3
Cataract, Miosis, Postnatal growth retardation, Optic atrophy, Developmental cataract, Microcorne... OMIM:614222
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Pneumonia, Abnormal cranial nerve morpho... ORPHA:79138
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Cherry red spot of the macula ORPHA:93399
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Bresek Syndrome
Hypoplasia of the bladder, Vesicoureteral reflux, Renal hypoplasia, Growth delay, Neonatal death,... ORPHA:85284
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Small for gestational age, Optic ... ORPHA:404454
Rodrigues Blindness
Microcornea, Microphthalmia, Short stature, Sclerocornea OMIM:268320
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Joubert Syndrome 9
Encephalocele, Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Cataract, Corneal opacity ORPHA:61
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia, Intrauterine growth retardation ORPHA:272
Gomez-Lopez-Hernandez Syndrome
Short stature, Opacification of the corneal stroma OMIM:601853
Asherman Syndrome
Metrorrhagia, Miscarriage, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia OMIM:615996
Pituitary Apoplexy
Hypertension, Hypotension, Mydriasis ORPHA:95613
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Meckel Syndrome
Encephalocele, Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Optic atr... ORPHA:564
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Failure to thrive, Short stature OMIM:602361
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Microcornea, Retinal... ORPHA:2510
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Distal Duplication 6P
Short stature, Abnormal eyelash morphology, Renal hypoplasia, Abnormality of the urinary system, ... ORPHA:1745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Retinal degeneration, Abnormally large globe OMIM:615249
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thrive, Cereb... ORPHA:163937
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract, Short stature, Obesity ORPHA:3085
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Miosis, Heart block, Cardiomyopathy, Microphthalmi... ORPHA:773
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Short stature, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca... ORPHA:1806
Achondrogenesis Type 2
Retinal detachment, Cataract, Short stature, Abnormal vitreous humor morphology, Lens subluxation ORPHA:93296
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Short stature, Cardiomyopathy, Mitral regurgitation, Neuro... OMIM:607014
Fragile X Syndrome
Macroorchidism ORPHA:908
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Zellweger Syndrome
Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Short stature, B... ORPHA:912
Infantile Refsum Disease
Cataract, Short stature, Facial palsy, Rod-cone dystrophy, Optic atrophy, Cardiomyopathy, Arrhyth... ORPHA:772
Pierpont Syndrome
Short stature, Microcornea, Decreased body weight, Microphthalmia, Failure to thrive OMIM:602342
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Highly arched eyebrow, Synophrys, Renal... OMIM:616854
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Short stature ORPHA:281090
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Obesity OMIM:194072
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... OMIM:613390
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... ORPHA:2131
Cataract 48
Cataract, Miosis OMIM:618415
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Short stature, Corneal erosion, Inflammatory abnormality of ... ORPHA:816
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulop... OMIM:231680
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Short stature ORPHA:3433
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Short stature, Polycystic ovaries ORPHA:284180
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... ORPHA:90068
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Corneal erosion, Abnormal pupil morphology... ORPHA:1764
Pellagra-Like Syndrome
Cataract, Skin rash OMIM:260650
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Unilateral Ocular Duplication
Microcornea, Encephalocele, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Knobloch Syndrome 1
Cerebellar atrophy, Retinal detachment, Optic disc pallor, Occipital encephalocele, Occipital men... OMIM:267750
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Multiple Sulfatase Deficiency
Cerebellar atrophy, Short stature, Corneal opacity, Cerebral atrophy, Retinal degeneration OMIM:272200
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Short stature ORPHA:44
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity OMIM:602562
Warburg Micro Syndrome 2
Cataract, Postnatal growth retardation, Optic atrophy, Developmental cataract, Microcornea, Micro... OMIM:614225
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon, Disproportionate short-li... OMIM:619194
Cataract 47
Microcornea, Cataract OMIM:612018
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Short stature OMIM:617404
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis OMIM:619351
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly,... ORPHA:494344
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Usher Syndrome Type 1
Subcortical cerebral atrophy, Cataract, Cerebral cortical atrophy, Iris hypopigmentation ORPHA:231169
Intellectual Developmental Disorder, X-Linked 92
Short stature, Decreased testicular size OMIM:300851
Floating-Harbor Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Umbilical h... OMIM:136140
Hadziselimovic Syndrome
Epicanthus, Short stature, Renal hypoplasia, Ptosis OMIM:612946
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Elevated circulating creatinine concentration, Abnormal renal corti... OMIM:616733
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystro... OMIM:612674
Angelman Syndrome
Keratoconus, Optic disc pallor, Optic atrophy, Obesity, Astigmatism, Delayed menarche, Cerebral c... ORPHA:72
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Short stature, Ocular albinism, Growth delay, Choroideremia, Aplasia/H... ORPHA:2719
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Cataract, Optic atrophy, Cerebral atrophy, Hypertrophic cardiomyopathy, Retin... ORPHA:544469
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Frontofacionasal Dysplasia
Encephalocele, Cataract, Short stature, Brushfield spots, Microcornea, Limbal dermoid, Microphtha... ORPHA:1791
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic... ORPHA:42775
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling, Cataract OMIM:614105
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Renal cyst, Polycysti... ORPHA:2044
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Mietens Syndrome
Severe short stature, Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophi... ORPHA:1345
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Short stature ORPHA:3437
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Cataract OMIM:615352
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Refsum Disease, Classic
Cataract, Miosis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retin... OMIM:266500
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Cataract, Small for gestational age, Cerebral atrophy, Intrauterine growth re... OMIM:615095
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay... OMIM:617595
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Cataract, Short stature, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:610651
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Congestive heart failure, Microcornea, Umbilical hernia, Microphthalmia, Retinopathy ORPHA:2505
Dyschondrosteosis-Nephritis Syndrome
Intrauterine growth retardation, Mesomelic short stature, Corneal opacity, Short stature ORPHA:1765
Kapur-Toriello Syndrome
Cataract, Retinal coloboma, Microphthalmia, Iris coloboma, Intrauterine growth retardation OMIM:244300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Rhizomelia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood OMIM:604273
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Severe postnatal growth retardation, Microph... ORPHA:2399
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Aortic regurgitation, Failure to thrive, Cataract, Small for gestational age,... OMIM:614866
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Mevalonic Aciduria
Cataract, Short stature, Cerebral cortical atrophy ORPHA:29
Kapur-Toriello Syndrome
Microphthalmia, Failure to thrive, Retinal coloboma, Iris coloboma ORPHA:2328
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Short stature ORPHA:85172
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia ORPHA:2151
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Carpenter Syndrome 1
Short stature, Optic atrophy, Obesity, Cerebral atrophy, Microcornea, Opacification of the cornea... OMIM:201000
Rauch-Steindl Syndrome
Epicanthus, Telecanthus, Short stature, Miscarriage, Highly arched eyebrow, Postnatal growth reta... OMIM:619695
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Vitamin K Antagonist Embryofetopathy
Cataract, Myelomeningocele, Optic atrophy, Intrauterine growth retardation, Aplasia/Hypoplasia af... ORPHA:1914
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Cataract, Optic atrophy, Cerebral cortical atrophy OMIM:617481
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract, Rhizomelia ORPHA:93267
22Q11.2 Deletion Syndrome
Chronic otitis media, Acne, Short stature, Spina bifida, Obesity, Umbilical hernia, Meningocele, ... ORPHA:567
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Cerebral atrophy, Developmental cataract OMIM:614219
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Cranial nerve compressio... ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Cataract, Growth delay OMIM:614932
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Short stature, Corneal arcus, Umbilical hernia, Failure to thrive, Intrauterine growth ... OMIM:219150
Revesz Syndrome
Exudative retinopathy, Megalocornea, Leukocoria, Intrauterine growth retardation OMIM:268130
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Rudiger Syndrome
Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Mulibrey Nanism
Short stature, Corneal dystrophy, Congestive heart failure, Growth delay, Pigmentary retinopathy,... OMIM:253250
Femoral-Facial Syndrome
Short stature, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Upslanted p... ORPHA:1988
Oculoectodermal Syndrome
Transient ischemic attack, Chorioretinal atrophy, Microcornea, Growth delay, Astigmatism, Opacifi... OMIM:600268
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... OMIM:253280
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614962
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Lathosterolosis
Cataract, Meningocele, Microcornea, Opacification of the corneal stroma, Intrauterine growth reta... ORPHA:46059
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Growth delay, Keratoconjunctivitis sicca, Microphthalmia, Cerebral co... OMIM:234050
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Short stature, Astigmatism, Retinal coloboma, Microphthalmia OMIM:618571
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration, Cataract OMIM:619780
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration, Cataract, Tortuosity of conjunctival vessels ORPHA:284289
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Cataract, Short stature OMIM:224050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Cataract, Short stature, Macular coloboma, Macular atrophy... OMIM:619260
Costello Syndrome
Keratoconus, Failure to thrive in infancy, Short stature, Pulmonic stenosis, Hypertrophic cardiom... ORPHA:3071
Hepatic Lipase Deficiency
Corneal arcus, Angina pectoris OMIM:614025
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Miosis, Cardiac conduction abnormality, Myo... ORPHA:466677
Burn-Mckeown Syndrome
Short stature, Unilateral renal agenesis, Renal hypoplasia, Lower eyelid coloboma, Blepharophimos... OMIM:608572
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
Schimke Immunoosseous Dysplasia
Small for gestational age, Transient ischemic attack, Disproportionate short-trunk short stature,... OMIM:242900
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Small for gestational age, Miosis, Recurr... OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Occipital encephalocele, Retinal atrophy, Corneal opacity, Optic nerve hypopl... OMIM:236670
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Eczema, Sclerocornea, Microphthalmia, Iris hypopigmentation ORPHA:284160
Laurence-Moon Syndrome
Cataract, Short stature, Iris coloboma, Obesity ORPHA:2377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Elevated circulating creatinine conce... OMIM:614376
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Short stature, Telangiectasia of the skin, Keratitis, Opti... ORPHA:910
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Cerebral cortical atrophy OMIM:619527
Wilson-Turner Syndrome
Truncal obesity, Cataract, Short stature ORPHA:3459
Nephronophthisis 11
Anisocoria, Growth delay, Retinal degeneration OMIM:613550
Hypomelanosis Of Ito
Cataract, Iris coloboma, Cerebral atrophy OMIM:300337
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Postnatal growth retardation, Developmental cataract, Intr... OMIM:616603
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Disproportionate short stature, Cataract ORPHA:1856
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney ORPHA:2578
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Short stature, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy, ... OMIM:268020
Cln3 Disease
Cerebellar atrophy, Cataract, Acne, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy... ORPHA:228346
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... ORPHA:261290
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, Cataract, Hypopigmentation of the fundus ORPHA:163649
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Short stature, Chorioretinal coloboma, Umbilical hernia, Iris coloboma OMIM:617662
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... OMIM:120330
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Skin rash, Shor... ORPHA:464
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Short stature, Renal hypoplasia, Growth delay, Delayed puberty, Intrauterine growth r... OMIM:616817
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Severe short stature, Cataract, Cerebral atrophy OMIM:619851
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Chromosome Xp11.3 Deletion Syndrome
Cataract, Short stature, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, R... OMIM:300578
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Flynn-Aird Syndrome
Rod-cone dystrophy, Cerebral cortical atrophy, Cachexia, Cataract ORPHA:2047
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy, Rod-cone dystrophy, Cataract OMIM:614879
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Phenylketonuria
Cataract, Blue irides, Eczema OMIM:261600
Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis, Corneal opacity, Aortic regurgitation ORPHA:93474
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Gapo Syndrome
Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Growth delay, Shallow an... OMIM:230740
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity, Blepharitis OMIM:602400
Gapo Syndrome
Keratoconus, Short stature, Optic atrophy, Growth delay, Umbilical hernia ORPHA:2067
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Failure to thrive OMIM:620157
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Short stature, Delayed puberty ORPHA:2410
Baralle-Macken Syndrome
Cataract, Obesity, Global brain atrophy OMIM:619255
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Brain at... OMIM:614877
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Microphthalmia, Lenz Type
Cataract, Short stature, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia... ORPHA:568
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Cataract, Erysipelas, Delayed puberty OMIM:615704
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Failure to thrive, Cataract OMIM:617228
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Plague
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Enterocolitis,... ORPHA:707
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Chorioretinal coloboma, Microphthalmia, Aortic valve... OMIM:243310
Al-Gazali Syndrome
Failure to thrive, Corneal opacity, Sclerocornea, Recurrent pneumonia OMIM:609465
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Growth delay, Pigmentary retinopathy, Microphthalmia OMIM:614230
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Disproportionate short-trunk short stature, Cervical myelopathy, Mitral regurgit... OMIM:253010
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Sc... OMIM:107320
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bicornuate uterus OMIM:258320
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Cataract OMIM:301075
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Cataract ORPHA:2643
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Growth delay, Microphthalmia, Iris coloboma ORPHA:77298
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Polymicrogyria, Short stature, Hypospadias OMIM:618874
4H Leukodystrophy
Cerebellar atrophy, Cataract, Short stature, Optic atrophy, Delayed puberty ORPHA:289494
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Odontochondrodysplasia 1
Death in infancy, Short stature, Mesomelic short stature, Polycystic kidney dysplasia, Nephronoph... OMIM:184260
Isolated Atp Synthase Deficiency
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Pt... ORPHA:254913
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O... OMIM:609033
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Micropenis ORPHA:171839
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Srd5A3-Cdg
Cerebellar atrophy, Cataract, Optic disc hypoplasia, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Weill-Marchesani Syndrome
Cataract, Short stature, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve st... ORPHA:3449
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Cataract, Anterior basal encephalocele OMIM:136760
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Hurler-Scheie Syndrome
Aortic regurgitation, Corneal opacity, Short stature, Growth delay, Pulmonary arterial hypertensi... OMIM:607015
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Corneal opacity, Optic nerve hypoplasia, Short stature, Abnormal left ... OMIM:301056
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Growth delay, Microphthalmia, Failure to thrive OMIM:274270
Trichothiodystrophy 3, Photosensitive
Cataract, Short stature, Developmental cataract, Microphthalmia, Failure to thrive, Intrauterine ... OMIM:616395
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Achromatopsia 3
Cataract OMIM:262300
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Death in infancy, Elevated circulating creatine kinase... OMIM:608836
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation, Small for gestational age, Developmental cataract OMIM:618804
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy, Short st... ORPHA:436245
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Lcat Deficiency
Corneal opacity ORPHA:650
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia... OMIM:614091
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Cerebral cortical atrophy ORPHA:101006
Weill-Marchesani Syndrome 1
Cataract, Short stature, Proportionate short stature, Ectopia lentis, Microspherophakia, Shallow ... OMIM:277600
Sanjad-Sakati Syndrome
Short stature, Corneal opacity, Postnatal growth retardation, Astigmatism, Severe intrauterine gr... ORPHA:2323
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Short stature, Developmental cataract, Delayed puberty, Failure to thriv... OMIM:616834
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Short stature, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Pe... OMIM:309801
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Epicanthus, Telecanthus, Renal hypoplasi... ORPHA:85321
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Downslanted palpebral fissures, Renal hypoplasia ORPHA:2256
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Recurrent pneumonia, Disproportionate short-trunk short stature, Opacificati... OMIM:253000
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy OMIM:258870
Verheij Syndrome
Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth delay, Intrauterine growth re... OMIM:615583
Muscle-Eye-Brain Disease
Meningocele, Cataract, Optic atrophy ORPHA:588
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Intrauterine growth retardation, Abnormal cornea morphology, Cornea... ORPHA:357058
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Retinal thinning, Short stature, Osteoarthritis, Growth delay, Asteroid hyalosis ORPHA:166011
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Cataract, Short stature, Abnormal auditory evoked potentials... OMIM:216400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Short stature, Optic atroph... OMIM:268315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... OMIM:614643
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Failure to thrive, Cataract, Short stature ORPHA:251009
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Gastrointestinal hemorrhage, Congestive heart failure, Recurrent... OMIM:225400
Dworschak-Punetha Neurodevelopmental Syndrome
Elevated circulating creatine kinase concentration, Unilateral renal hypoplasia, Vesicoureteral r... OMIM:619955
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Failure to thrive, Cataract OMIM:618958
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Stiff Skin Syndrome
Cataract, Short stature OMIM:184900
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus OMIM:615524
Kenny-Caffey Syndrome, Type 2
Papilledema, Severe short stature, Small for gestational age, Short stature, Developmental catara... OMIM:127000
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Short stature, Optic atrophy, Anisocoria, Abnormal autonomic nervous sys... OMIM:231550
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pupillary light ... ORPHA:45358
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Short stature, Proportionate short stature, Ectopia lentis, Lens luxation... OMIM:608328
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Short stature, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to t... OMIM:257850
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Vesicoureteral reflux, Dacryocystitis, Eczema, Renal hypoplasia ORPHA:464288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract OMIM:615350
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Uveitis, Developmental cataract OMIM:617044
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Astigmatism, Decreased body weight, Microphthalmia, Intrau... OMIM:609053
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Optic atrophy, Atrioventricular block, Central nervous system degenera... ORPHA:581
Campomelia, Cumming Type
Pancreatic cysts, Short stature, Polycystic kidney dysplasia OMIM:211890
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Ramon Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Abnormal anterior chamber morphology, Tel... ORPHA:3019
Wilson Disease
Increased body weight, Hepatitis, Weight loss, Kayser-Fleischer ring, Arthritis, Acute hepatitis,... ORPHA:905
Gillessen-Kaesbach-Nishimura Syndrome
Telecanthus, Epicanthus, Polycystic kidney dysplasia OMIM:263210
Gm1 Gangliosidosis
Corneal opacity, Short stature, Abnormal retinal vascular morphology, Congestive heart failure, O... ORPHA:354
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Cataract, Osteomyelitis, Decreased... OMIM:162400
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Rod-cone dyst... OMIM:615434
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Short stature, Developmental cataract ORPHA:436174
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Cach Syndrome
Cerebellar atrophy, Cataract, Optic atrophy, Cerebral atrophy, Growth delay, Optic neuritis, Atro... ORPHA:135
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Short stature, Renal hypoplasia ORPHA:75389
Cenani-Lenz Syndactyly Syndrome
Downslanted palpebral fissures, Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Cardiomyopathy, Cere... ORPHA:1493
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Noonan Syndrome 9
Pulmonic stenosis, Short stature, Prominent corneal nerve fibers OMIM:616559
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Mucopolysaccharidosis Type 1
Sinusitis, Corneal opacity, Short stature, Congestive heart failure, Optic atrophy, Chronic otiti... ORPHA:579
Sengers Syndrome
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Growth delay, Pulmonary a... OMIM:212350
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Limbal ... ORPHA:2363
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Fucosidosis
Failure to thrive, Corneal opacity ORPHA:349
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Decreased fertility, Hypogonadism, Decreased t... ORPHA:2234
Proximal Myotonic Myopathy
Cataract ORPHA:606
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Axonal degeneration, Pigmentary... ORPHA:88628
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Micr... ORPHA:2839
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Cataract, Disproportionate short-limb short stature ORPHA:2772
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... OMIM:610628
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Bilateral renal agenesis, Intrauter... OMIM:616258
X-Linked Intellectual Disability, Van Esch Type
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... OMIM:617914
Wolfram Syndrome 1
Cataract, Optic atrophy, Cerebral atrophy, Growth delay, Pigmentary retinopathy, Cardiomyopathy OMIM:222300
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Marden-Walker Syndrome
Epicanthus, Hypospadias, Postnatal growth retardation, Renal hypoplasia, Blepharophimosis, Intrau... OMIM:248700
Hemochromatosis, Type 4
Cardiomyopathy, Osteoarthritis, Cataract, Arrhythmia OMIM:606069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Optic nerve dysplasia, Anencephaly, Retinal dysplasia, Opacification of ... OMIM:615287
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Distal Triplication 15Q
Telecanthus, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycys... ORPHA:314588
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Pseudopseudohypoparathyroidism
Cataract, Short stature, Obesity OMIM:612463
Chromosome Xq27.3-Q28 Duplication Syndrome
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Intrauteri... OMIM:300869
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Pigmentary retinopathy, Cataract, Giant cell hepatitis ORPHA:79095
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Branchiootorenal Syndrome 1
Renal malrotation, Lacrimal duct stenosis, Unilateral renal agenesis, Renal steatosis, Lacrimal d... OMIM:113650
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Punctate keratitis, Failu... ORPHA:92050
Nevus Comedonicus Syndrome
Cataract, Spina bifida occulta, Spina bifida ORPHA:64754
Joubert Syndrome 20
Renal cyst OMIM:614970
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Abnormal retinal vascular morpholog... ORPHA:2715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Cataract, Dilated cardiomyopathy, Optic atrophy, Retinal dyspl... OMIM:253800
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Elevated circulating creatine kinase concentration, Elevated circulating acylcarniti... ORPHA:26791
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Corneal opacity, Short stature, Minimal change glomerulonephritis, Tra... ORPHA:1830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Growth delay, Intrauterine growth retardation, Megalocornea ORPHA:2409
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Eczema, Recurrent skin infections, Short stature, Keratitis, Erythroderma,... OMIM:308205
12Q14 Microdeletion Syndrome
Short stature, Ectopic kidney, Synophrys, Renal hypoplasia, Horseshoe kidney, Intrauterine growth... ORPHA:94063
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Short stature, Growth delay, Spina bifida occulta ORPHA:177
Neurotrophic Keratopathy
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... ORPHA:137596
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... ORPHA:3205
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Short stature OMIM:302950
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Arterial Tortuosity Syndrome
Keratoconus, Aortic regurgitation, Hypertension, Astigmatism, Ischemic stroke, Umbilical hernia, ... OMIM:208050
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Postnatal growth retardation,... OMIM:614732
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... OMIM:300952
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... ORPHA:79280
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Trichinellosis
Skin rash, Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjun... ORPHA:863
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Cataract OMIM:608810
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Recurrent skin infections, Growth delay, Decreased serum creatinine, Intrauterine ... OMIM:617744
Hurler Syndrome
Short stature, Corneal opacity, Angina pectoris, Growth delay, Cardiomyopathy, Hypertension, Rhin... ORPHA:93473
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Small for gestational age, Short stature, Supraventricular arrhythmia, Band keratopathy... ORPHA:2959
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Cataract, Cerebral atrophy OMIM:614409
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Cerebellar atrophy, Abnormal pupillary light reflex, O... ORPHA:99949
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Cerebral cortical atrophy, Recurrent pneumonia ORPHA:3137
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Short stature, Cerebral cortical atrophy ORPHA:1387
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Corneal opacity, Short stature OMIM:163200
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:95619
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Severe ... ORPHA:2237
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Alg8-Cdg
Cataract, Small for gestational age, Optic atrophy, Intrauterine growth retardation, Failure to t... ORPHA:79325
Congenital Ichthyosiform Erythroderma
Short stature, Keratitis, Corneal erosion, Erythroderma, Failure to thrive ORPHA:79394
Cockayne Syndrome
Miosis, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy, Abno... ORPHA:191
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Renal hypoplasia OMIM:617784
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Short stature, Iris coloboma, Decreased body weight OMIM:607906
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Blepharophimosis, Renal hypoplasia, Horse... OMIM:601186
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Mucopolysaccharidosis Type 7
Umbilical hernia, Corneal opacity, Hepatitis ORPHA:584
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Short stature, Microcornea, Severe postnatal growth retardation, Erythroderma, Micropht... ORPHA:35173
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Cerebral atrophy, Subcortical cerebral atrophy, Cerebral cortical atrophy, Pulmo... ORPHA:2396
Axial Spondylometaphyseal Dysplasia
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, ... ORPHA:168549
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Failure to thrive, ... OMIM:222765
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Failure to thrive, Corneal opacity, Intrauterine growth retardation ORPHA:364577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Congenital Fibrinogen Deficiency
Microphthalmia, Tachycardia, Internal hemorrhage, Developmental cataract ORPHA:335
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Tonic pupil, Slow pup... ORPHA:90658
Monilethrix
Cataract ORPHA:573
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Neuraminidase Deficiency
Cherry red spot of the macula, Cataract, Short stature, Cardiomyopathy OMIM:256550
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Short stature, Re... OMIM:308300
De Barsy Syndrome
Cataract, Corneal opacity, Short stature, Postnatal growth retardation, Umbilical hernia, Intraut... ORPHA:2962
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Short... ORPHA:193
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Kera... OMIM:269200
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Renpenning Syndrome
Severe short stature, Cataract, Cachexia, Growth delay, Iris coloboma ORPHA:3242
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Short stature, Cachexia, Spina bifida, Anencephaly... ORPHA:3380
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cataract, Optic atrophy, Opto-chiasmatic atrophy, Cardiomyopathy OMIM:620089
Fanconi Anemia
Cataract, Aganglionic megacolon, Short stature, Spina bifida, Weight loss, Aplasia/Hypoplasia of ... ORPHA:84
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Telangiectasia of the skin, Leukocoria, Intrauterine growth retardation ORPHA:1556
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Small for gestation... ORPHA:464311
Frontorhiny
Encephalocele, Cataract, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Iris colo... ORPHA:391474
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation, Failure to thrive in infancy, Intrauterine g... ORPHA:858
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Arterial Tortuosity Syndrome
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Cong... ORPHA:3342
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stro... ORPHA:280679
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Short stature, Corpus callosum atrophy, Growth delay, Cerebral cortical atrophy OMIM:616586
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Intrauterine growth retardation ORPHA:1352
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Epicanthus, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Astigmatism, Short stature, Sclerocornea ORPHA:2095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract OMIM:615351
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... OMIM:615300
Carpenter Syndrome
Umbilical hernia, Abnormal cornea morphology, Obesity ORPHA:65759
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Renal cyst, Upslanted palpebral fissure, Increased circulating very long-chain ... OMIM:614862
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Chorioretinitis, Arthritis, Ir... OMIM:109650
Jacobsen Syndrome
Optic atrophy, Nasolacrimal duct obstruction, Microcornea, Macular hypoplasia, Chorioretinal colo... OMIM:147791
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, S... ORPHA:324
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Renal hypoplasia, Growth delay, Upslanted palp... OMIM:619758
Monosomy 13Q14
Cataract, Short stature, Microphthalmia, Iris coloboma, Retinoblastoma, Intrauterine growth retar... ORPHA:1587
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy, Short stature OMIM:201180
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Short stature, Phthisis bulbi, Retinal calcification, Exudative retinopat... OMIM:259770
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Periton... ORPHA:679
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Short stature, Optic atrophy, Intrauterine growth retardation, Fail... OMIM:619833
Hereditary Acrokeratotic Poikiloderma
Short stature, Eczema, Telangiectasia of the skin, Pustule, Keratoconjunctivitis, Opacification o... ORPHA:2907
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Reduced sperm motility, Disproportionate short-trunk short stature OMIM:602271
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Cataract, Morning glory anomaly, Corpus callosum atrophy, Optic atrophy, Atro... ORPHA:98673
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Upslanted palpebral fissure, Renal hypoplasia, Hydronephrosis OMIM:613735
Atelis Syndrome 1
Cataract, Eczema, Bronchiectasis OMIM:620184
Galactokinase Deficiency
Failure to thrive, Nuclear cataract, Cataract, Small for gestational age ORPHA:79237
Trichothiodystrophy 1, Photosensitive
Cataract, Small for gestational age, Short stature, Telangiectasia, Microcornea, Keratoconjunctiv... OMIM:601675
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Myelopathy, Congestive heart failure, Recurrent pneumonia, Heart murmur, Gr... OMIM:252500
Classic Phenylketonuria
Growth delay, Cataract, Eczema ORPHA:79254
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am... OMIM:615605
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Renal hypoplasia, Upslanted palpeb... OMIM:609029
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Wolf-Hirschhorn Syndrome
Rieger anomaly, Small for gestational age, Short stature, Growth delay, Severe postnatal growth r... OMIM:194190
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Tricuspid regurgitation, Peters anomaly OMIM:618652
Usher Syndrome Type 2
Subcortical cerebral atrophy, Cataract, Cerebral cortical atrophy, Iris hypopigmentation ORPHA:231178
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Failure to thrive, Anophthalmia, Retinal dystrophy, Choriore... ORPHA:2556
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Short stature, Brushf... OMIM:619539
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Small for gestational age, Short stature, Sclerocornea, Failure to t... OMIM:619869
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:612843
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Microphthalmia, Fai... OMIM:601812
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
3Mc Syndrome 3
Growth delay, Corneal opacity, Short stature OMIM:248340
Cadds
Cerebellar atrophy, Intrauterine growth retardation, Cataract, Cholangitis ORPHA:369942
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Alagille Syndrome 1
Failure to thrive, Cataract, Band keratopathy, Chorioretinal atrophy, Abnormal anterior chamber m... OMIM:118450
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen... OMIM:617641
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Microcornea, Abnormal optic nerve morphology, Microphthalmia, Intraut... ORPHA:3412
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telan... OMIM:620155
Marinesco-Sjögren Syndrome
Severe short stature, Cataract, Optic atrophy ORPHA:559
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Postnatal growth retardation, Optic disc ... ORPHA:959
Lathosterolosis
Cataract, Myelomeningocele, Cerebral atrophy, Growth delay, Opacification of the corneal stroma OMIM:607330
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Short stature,... OMIM:206900
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Dysbetalipoproteinemia
Acute pancreatitis, Angina pectoris, Obesity, Gout, Corneal arcus ORPHA:412
Mucopolysaccharidosis Type 4
Corneal opacity, Short stature ORPHA:582
Retinitis Pigmentosa 74
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Cataract, Short stature, Rhizomelia, Astigmatism, Decreased body weight, Intr... OMIM:617164
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Recurrent pneumonia, Cerebral atrophy, Microcornea, Pulmonary arterial hypertension, Mi... OMIM:616449
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract OMIM:614872
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Hypertension, Anterior lenticonus, Nephritis OMIM:203780
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size OMIM:614897
Stickler Syndrome, Type I
Retinal detachment, Cataract, Osteoarthritis, Arthritis, Vitreoretinopathy, Membranous vitreous a... OMIM:108300
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Cataract, Cerebral atrophy OMIM:619286
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Cardiofaciocutaneous Syndrome 4
Cataract, Short stature, Optic nerve hypoplasia, Pulmonic stenosis OMIM:615280
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ocular albinism, Short stature, Iris hypopigmentation ORPHA:2720
Metatropic Dysplasia
Severe short stature, Cataract ORPHA:2635
Dentici-Novelli Neurodevelopmental Syndrome
Cataract OMIM:619877
Werner Syndrome
Cataract, Short stature, Retinal degeneration OMIM:277700
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... ORPHA:254516
Familial Isolated Hypoparathyroidism
Arrhythmia, Cataract, Short stature ORPHA:2238
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Nasolacrima... ORPHA:141099
Kniest Dysplasia
Retinal detachment, Cataract, Rhizomelia, Disproportionate short-trunk short stature, Recurrent o... OMIM:156550
Muckle-Wells Syndrome
Episcleritis, Skin rash, Short stature, Vasculitis, Optic atrophy, Uveitis, Arthritis, Conjunctiv... ORPHA:575
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... ORPHA:49041
Phelan-Mcdermid Syndrome
Epicanthus, Palpebral edema, Abnormality of the kidney, Long eyelashes, Polycystic kidney dysplas... OMIM:606232
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Myotonic Dystrophy 1
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Cerebral atro... OMIM:160900
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Short stature OMIM:259600
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca OMIM:619016
Emanuel Syndrome
Hooded eyelid, Unilateral renal agenesis, Renal hypoplasia, Growth delay, Upslanted palpebral fis... ORPHA:96170
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Optic atrophy, Failure to thrive ORPHA:543470
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal cardiovascular system physiology, Astigma... ORPHA:886
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Recurrent... ORPHA:2970
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Telecanthus, Highly arched eyeb... OMIM:618161
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Cataract, Obesity, Heart murmur OMIM:615418
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age OMIM:607371
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Developmental... ORPHA:93325
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cataract, Short stature, Congestive heart failure, Cranial nerve c... ORPHA:52430
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Corneal opacity, Disproportionate short-trunk short stature, Fa... ORPHA:239
Full Schwannomatosis
Cataract, Bilateral vestibular schwannoma ORPHA:93921
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Corneal dystrophy, Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:308800
Mevalonic Aciduria
Cerebellar atrophy, Optic disc pallor, Cataract, Failure to thrive in infancy, Skin rash, Short s... OMIM:610377
Axial Osteomalacia
Renal cyst OMIM:109130
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... OMIM:614527
Facial Spasm
Anisocoria OMIM:134300
Ruijs-Aalfs Syndrome
Posterior subcapsular cataract, Cataract, Short stature, Decreased body weight OMIM:616200
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing e... OMIM:602579
Matthew-Wood Syndrome
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Optic disc pallor, Small for gestational age, Corneal opacity, Eczema, Shor... ORPHA:464306
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... OMIM:620366
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Ectopia lentis OMIM:604571
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Short stature, Postnatal growth retardation, Ambiguous genitalia, Peno... OMIM:616489
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism, Inguinal hernia ORPHA:2856
1Q21.1 Microdeletion Syndrome
Cataract, Short stature, Microphthalmia, Failure to thrive, Iris coloboma, Intrauterine growth re... ORPHA:250989
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Decreased distal sensory nerve action potential, Developmental glaucoma, Optic atrophy,... ORPHA:99956
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Eleva... ORPHA:90796
Mucopolysaccharidosis, Type Vii
Severe short stature, Corneal opacity, Short stature, Postnatal growth retardation, Cardiomyopath... OMIM:253220
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618117
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal coloboma, Microphth... OMIM:607323
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Cerebral atrophy ORPHA:369847
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Cerebellar vermis atrophy OMIM:156610
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Epicanthus, Increased circulating thyroglobulin level, Pancreatic cysts, Renal cyst, Polycystic k... OMIM:610199
Harlequin Ichthyosis
Cataract, Sudden cardiac death, Erythroderma ORPHA:457
19Q13.11 Microdeletion Syndrome
Cataract, Cachexia, Microcornea, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:217346
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Epicanthus, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... OMIM:263650
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Harrod Syndrome
Intrauterine growth retardation, Failure to thrive, Cataract, Cerebral cortical atrophy ORPHA:2115
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Growth delay, Macroorchidism, Thyroid hypoplasia, Increased circulating... ORPHA:90674
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Monosomy 9Q22.3
Cataract, Large for gestational age, Umbilical hernia, Microphthalmia, Retinopathy ORPHA:77301
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Supravalvar pulmonary stenosis, ... OMIM:620185
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Clouston Syndrome
Short stature, Cataract, Conjunctivitis, Blepharitis OMIM:129500
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Pneumonia... ORPHA:309282
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Disproportionate shor... OMIM:616541
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Cataract, Postnatal growth retardation, Optic ... ORPHA:90321
Branchio-Oculo-Facial Syndrome
Cataract, Short stature, Nasolacrimal duct obstruction, Microcornea, Intrauterine growth retardat... ORPHA:1297
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Cockayne Syndrome Type 2
Anophthalmia, Uveitis, Developmental cataract, Conjunctivitis, Intrauterine growth retardation ORPHA:90322
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Short stature, Abnormal foveal... ORPHA:217085
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Mild postnatal growth retardatio... ORPHA:90324
Arima Syndrome
Ptosis, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Renal cor... OMIM:243910
Sponastrime Dysplasia
Cataract, Small for gestational age, Rhizomelia, Recurrent pneumonia, Disproportionate short-limb... ORPHA:93357
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cerebral atrophy, Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
H Syndrome
Psoriasiform dermatitis, Short stature, Abnormal cardiovascular system physiology, Bronchiectasis... ORPHA:168569
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Triploidy
Cataract, Meningocele, Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye, Iri... ORPHA:3376
Gorlin Syndrome
Cataract, Iris coloboma ORPHA:377
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Abnormali... ORPHA:397590
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Decre... OMIM:610198
Knobloch Syndrome
Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Abnormal vitreous humor mo... ORPHA:1571
Galactosemia I
Failure to thrive, Cataract OMIM:230400
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Cataract, Portal hypertension, Pulmonary arterial hyp... ORPHA:974
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Highly arched eyebrow, Trichiasis, Epiblepharon, Renal hypop... OMIM:618460
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postnatal growth retardation, Erythroderma, Microphthalmia, Failure to thrive OMIM:302960
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Hallermann-Streiff Syndrome
Cataract, Small for gestational age, Spina bifida, Proportionate short stature, Optic disc colobo... OMIM:234100
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Renal h... OMIM:146510
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Short stature, Abnormal foveal... ORPHA:580
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Short stature, Abnormal autonomic nervous system physiology, Opa... OMIM:601559
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Short stature, Abnormal foveal... ORPHA:217093
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Hypertension, Chor... ORPHA:636
Marshall Syndrome
Retinal detachment, Cataract, Short stature, Ectopia lentis, Osteoarthritis, Abnormal vitreous hu... ORPHA:560
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula... ORPHA:1834
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617690
Alg3-Cdg
Cataract, Neural tube defect, Subcortical cerebral atrophy, Cardiomyopathy, Brain atrophy ORPHA:79321
Frontofacionasal Dysplasia
Cataract, Microcornea, Cranium bifidum occultum, Microphthalmia, Iris coloboma OMIM:229400
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonatal death,... OMIM:608104
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Short stature ORPHA:79107
Moebius Syndrome
Corneal opacity, Facial palsy, Blepharitis ORPHA:570
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Cerebral... OMIM:213700
Sitosterolemia 1
Arthritis, Corneal arcus OMIM:210250
Fryns Syndrome
Aganglionic megacolon, Microphthalmia, Corneal opacity, Cerebral cortical atrophy ORPHA:2059
Mosaic Trisomy 8
Corneal opacity, Short stature ORPHA:96061
3Q29 Microdeletion Syndrome
Microphthalmia, Failure to thrive, Cataract, Pulmonary arterial hypertension ORPHA:65286
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Short stature, Immotile sperm, Abnormal central microtubular pair morphol... OMIM:612650
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Optic atrophy ORPHA:1528
Jaberi-Elahi Syndrome
Failure to thrive, Cataract, Optic atrophy, Cerebellar vermis atrophy OMIM:617988
Mosaic Trisomy 9
Microphthalmia, Corneal opacity, Spina bifida, Intrauterine growth retardation ORPHA:99776
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Cataract, Osteoarthritis, Disproportionate short stature, Degenerative vitreo... ORPHA:1427
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Gonadal calcificatio... ORPHA:314478
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Caroli Disease
Conjugated hyperbilirubinemia, Conjunctival icterus, Pruritus, Polycystic kidney dysplasia, Abnor... ORPHA:53035
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Failure to thrive, Corneal opacity, Growth delay ORPHA:79396
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Uveitis, Wei... OMIM:608710
Autosomal Recessive Spastic Paraplegia Type 5A
Atrophy of the spinal cord, Cataract ORPHA:100986
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Postnatal growth ret... OMIM:616113
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Chime Syndrome
Retinal coloboma, Cerebral cortical atrophy, Corneal opacity ORPHA:3474
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Recurrent skin infections, Corneal scarring OMIM:616488
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity, Cataract, Short stature ORPHA:127
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Temtamy Preaxial Brachydactyly Syndrome
Short stature, Abnormally large globe, Abnormal lens morphology, Optic atrophy, Growth delay, Abn... ORPHA:363417
Van Maldergem Syndrome 1
Epicanthus, Hypospadias, Renal hypoplasia, Growth delay, Blepharophimosis, Short palpebral fissur... OMIM:601390
Hajdu-Cheney Syndrome
Epicanthus, Telecanthus, Hypospadias, Short stature, Synophrys, Renal cyst, Long eyelashes, Polyc... OMIM:102500
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacolon, Hype... OMIM:209900
Martsolf Syndrome 1
Cataract, Short stature, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardio... OMIM:212720
Cat Eye Syndrome
Short stature, Umbilical hernia, Chorioretinal coloboma, Pulmonic stenosis, Microphthalmia, Iris ... OMIM:115470
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoaciduria, Hypoka... OMIM:617913
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Cataract, Brain atrophy, Intrauterine growth retardation, Cerebral cortical a... OMIM:620327
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Short stature OMIM:247410
Van Maldergem Syndrome 2
Epicanthus, Hypospadias, Renal hypoplasia, Growth delay, Narrow palpebral fissure, Blepharophimos... OMIM:615546
Cowden Syndrome 5
Cataract, Thyroiditis, Angioid streaks of the fundus OMIM:615108
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration OMIM:153400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Cataract, Iris coloboma ORPHA:2250
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity, Short stature, Growth delay, Microphthalmia, Int... ORPHA:1052
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Chronic mucocutaneous candidiasis, Abnormal left ventricular fun... ORPHA:36913
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Cataract, First degree atrioventricular block, Obesity, Decreased body weight ORPHA:589821
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Cataract, Conjunctivitis, Corneal scarring OMIM:226600
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Pneumonia, Short stature, Disproportionate short-trunk ... OMIM:253200
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Sparse eyebrow, Renal hypoplasia, Renal cyst, Stillbirth OMIM:616300
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cataract, Epistaxis, Ocular albinism, Weight loss, Cardiomyopathy, A... ORPHA:79430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Renal hypoplasia OMIM:617660
Cornelia De Lange Syndrome 1
Short stature, Hypospadias, Proteinuria, Ectopic kidney, Curly eyelashes, Highly arched eyebrow, ... OMIM:122470
Cronkhite-Canada Syndrome
Cataract, Cachexia ORPHA:2930
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Cataract, Optic atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the... ORPHA:314404
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... OMIM:612649
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Upslanted palpebral fissure, Incre... OMIM:154230
Williams Syndrome
Myocardial infarction, Chronic otitis media, Megalocornea, Spina bifida occulta, Short stature, S... ORPHA:904
Short-Rib Thoracic Dysplasia 12
Epicanthus, Renal hypoplasia, Neonatal death, Intrauterine growth retardation, Cystic renal dyspl... OMIM:269860
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Opacification of the corneal stroma, Large for gestational... OMIM:229850
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Developmental Delay With Or Without Dysmorphic Facies And Autism
Epicanthus, Short stature, Highly arched eyebrow, Renal hypoplasia, Renal cyst, Upslanted palpebr... OMIM:618454
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Failure to thrive, Corneal opacity, Intrauterine growth retardation OMIM:608670
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Optic atrophy, Corneal scarring, Hypertension, Failure to thrive,... OMIM:610965
Aicardi Syndrome
Retinal detachment, Cataract, Spina bifida, Postnatal growth retardation, Chorioretinal lacunae, ... OMIM:304050
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Marshall Syndrome
Retinal detachment, Cataract, Short stature, Lens luxation, Knee osteoarthritis, Vitreoretinopath... OMIM:154780
Transketolase Deficiency
Cataract, Proportionate short stature, Seborrheic dermatitis, Uveitis, Conjunctivitis ORPHA:488618
Acrorenal-Mandibular Syndrome
Epicanthus, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney ... OMIM:200980
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia, Iris coloboma ORPHA:2612
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Ectopia lentis, Myelomeningocele, Optic atrophy, Telangiectasia, Umb... OMIM:305600
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Cataract, Corpus callosum atrophy, Short stature OMIM:601162
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... OMIM:146255
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Short stature, Pulmonary arterial hypertension OMIM:300887
Congenital Myopathy 17
Telecanthus, Renal hypoplasia, Ureteropelvic junction obstruction, Downslanted palpebral fissures... OMIM:618975
Tangier Disease
Facial diplegia, Corneal opacity ORPHA:31150
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Cataract, Optic atrophy, Cerebral atrophy OMIM:220500
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Cowden Syndrome 6
Cataract, Thyroiditis, Angioid streaks of the fundus OMIM:615109
Fanconi Anemia, Complementation Group F
Short stature, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Intrauterine growth retarda... OMIM:603467
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic otitis media, Ch... OMIM:244400
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Lacrimal duct stenosis, Sparse eyebrow, Fetal megacystis, Intrauter... ORPHA:73246
Cri-Du-Chat Syndrome
Small for gestational age, Cataract, Optic atrophy, Growth delay OMIM:123450
Cerebrofacioarticular Syndrome
Epicanthus, Short stature, Hypospadias, Renal hypoplasia, Blepharophimosis ORPHA:314679
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Bilateral microphthalmos, Developmental cataract, Mi... ORPHA:33364
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Lymphedema-Distichiasis Syndrome
Cataract, Recurrent skin infections, Corneal erosion, Tubulointerstitial nephritis, Conjunctiviti... ORPHA:33001
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension OMIM:615510
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E... ORPHA:394
Gaucher Disease
Osteomyelitis, Corneal opacity, Short stature, Osteoarthritis, Hepatitis, Pulmonary arterial hype... ORPHA:355
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Short stature, Abnormal pupil morphology, Che... ORPHA:534
Ogden Syndrome
Global glomerulosclerosis, Epicanthus, Short stature, Eczema, Abnormal eyelid morphology, Postnat... OMIM:300855
Dahlberg-Borer-Newcomer Syndrome
Cataract, Short stature ORPHA:1563
Chromosome 13Q14 Deletion Syndrome
Growth delay, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Retinoblas... OMIM:613884
Proximal Renal Tubular Acidosis
Cataract, Mild postnatal growth retardation, Short stature, Band keratopathy, Hypovolemia, Growth... ORPHA:47159
Distal Deletion 12Q
Late onset atopic dermatitis, Telecanthus, Short stature, Ectopic kidney, Growth delay, Polycysti... ORPHA:96149
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Cataract, Short stature, Band keratopathy, Obesity, Hypertension, Conjunct... ORPHA:79443
Codas Syndrome
Cataract, Short stature ORPHA:1458
Pseudohypoparathyroidism, Type Ic
Cataract, Short stature, Obesity OMIM:612462
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Cataract, Severe short stature, Disproportionate short-limb short statur... OMIM:224410
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Andersen-Tawil Syndrome
Short stature, Renal hypoplasia, Growth delay, Renal tubular dysfunction, Short palpebral fissure ORPHA:37553
Kinsship Syndrome
Death in infancy, Short stature, Synophrys, Renal hypoplasia, Horseshoe kidney, Long palpebral fi... OMIM:619297
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Agel Amyloidosis
Cataract, Facial palsy, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Lattice corneal d... ORPHA:85448
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Blau Syndrome
Pericarditis, Cataract, Skin rash, Facial palsy, Abnormal retinal vascular morphology, Retrobulba... ORPHA:90340
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Short stature, Corneal arcus, Pulmonic stenosis, Facial telangiectasia, Pulmonary a... OMIM:602782
Congenital Disorder Of Glycosylation, Type Ij
Cataract OMIM:608093
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopath... OMIM:300845
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Sparse eyelashes, Sparse eyebrow, Disproportionate short stature, Renal hypopla... OMIM:210710
Meckel Syndrome, Type 10
Epicanthus, Hypospadias, Renal cyst, Narrow palpebral fissure, Micropenis, Ptosis OMIM:614175
Alport Syndrome
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Hy... ORPHA:63
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract ORPHA:369840
Caroli Syndrome
Abnormality of the kidney, Conjugated hyperbilirubinemia, Conjunctival icterus, Pruritus, Hyperbi... ORPHA:480520
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Pseudohypoparathyroidism, Type Ia
Cataract, Short stature, Obesity OMIM:103580
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Short stature, Erythema nodosum, Congestive heart failure, Epididymitis, Punctate o... OMIM:256040
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Telangiectasia of the skin, Myocard... ORPHA:902
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Cerebral atrophy, Developmental cataract, Microcornea, Pulmonary arterial hy... ORPHA:464738
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Cataract, Telangiectasia, Interstitial pneumonitis, Hypoten... ORPHA:454831
Tbck-Related Intellectual Disability Syndrome
Pulmonic stenosis, Corneal opacity, Eczema, Global brain atrophy ORPHA:488632
Orofaciodigital Syndrome I
Epicanthus, Telecanthus, Short stature, Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic k... OMIM:311200
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... ORPHA:83628
Wolf-Hirschhorn Syndrome
Sclerocornea, Optic atrophy, Chronic otitis media, Intrauterine growth retardation, Megalocornea,... ORPHA:280
Rothmund-Thomson Syndrome, Type 2
Cataract, Small for gestational age, Short stature, Telangiectasia, Microcornea, Microphthalmia, ... OMIM:268400
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Short stature, Phthisi... OMIM:300166
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Spondyloocular Syndrome
Retinal detachment, Cataract, Short stature, Posterior subcapsular cataract, Decreased body weight OMIM:605822
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Cataract, Rhizomelia, Congestive heart failure, Recurrent pneumonia, Cerebral... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Superficial Siderosis
Cerebellar atrophy, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormality of the vesti... ORPHA:247245
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Growth delay, Bacterial... ORPHA:2072
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, Cerebral atrophy OMIM:618797
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Oculodentodigital Dysplasia
Cataract, Uveitis, Microcornea, Microphthalmia, Arrhythmia OMIM:164200
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Iris coloboma OMIM:601707
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Anencephaly, Lens subluxation, Sh... ORPHA:2369
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decre... ORPHA:453533
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Severe short stature, Corneal opacity, Aganglionic megacolon, Eczema, Keratitis, Co... ORPHA:2273
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Upslanted palpebral fissure, Intrauter... OMIM:614083
Syndromic Diarrhea
Short stature, Renal hypoplasia, Abnormality of iron homeostasis, Polycystic kidney dysplasia, In... ORPHA:84064
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Short stature, Posterior subcapsular cataract, Optic dis... ORPHA:536471
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Noonan Syndrome 10
Short stature, Prominent corneal nerve fibers, Hypertrophic cardiomyopathy, Mitral regurgitation,... OMIM:616564
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Colitis OMIM:301220
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
2Q31.1 Microdeletion Syndrome
Short stature, Optic disc coloboma, Microphthalmia, Iris coloboma, Cerebral cortical atrophy ORPHA:251014
Peters Plus Syndrome
Cataract, Corneal opacity, Short stature, Rhizomelia, Postnatal growth retardation, Optic atrophy... ORPHA:709
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Short stature, Umbilical hernia ORPHA:369891
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cataract, Cachexia OMIM:175500
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Pseudotrisomy 13 Syndrome
Upslanted palpebral fissure, Micropenis, Renal agenesis, Renal hypoplasia OMIM:264480
Kindler Epidermolysis Bullosa
Corneal opacity, Recurrent skin infections, Cheilitis, Inflammation of the large intestine, Colit... ORPHA:2908
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Pheochromocytoma
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Development... OMIM:171300
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Short stature, Microcornea, Ectopia pupillae, Chorioretinal colo... OMIM:235730
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia,... OMIM:614833
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Gray matter heterotopia ORPHA:531151
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Short stature, Renal cyst, Blepharophimosis, Ptosis ORPHA:2031
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Small for gestational age, Growth delay, Hypertension, Arrhythmia, Umbilical hernia, Hy... OMIM:614052
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Short stature, Hashimoto thyroiditis, Pulmonic stenosis OMIM:618223
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulea... ORPHA:67036
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst OMIM:617100
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea OMIM:191830
Mend Syndrome
Cataract, Short stature, Abnormal auditory evoked potentials, Microphthalmia, Aortic valve stenos... ORPHA:401973
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Epicanthus, H... OMIM:270400
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Epicanthus, Short stature, Telecanthus, Unilateral renal agenesis, Palpebral... OMIM:181270
Vici Syndrome
Cataract, Macular atrophy, Postnatal growth retardation, Congestive heart failure, Dilated cardio... OMIM:242840
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Microcornea, Hydranencephaly, Microphthalmia OMIM:260660
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Corneal scarring, Keratoconjunctivitis sicca, Rec... OMIM:148210
Bardet-Biedl Syndrome 17
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst OMIM:615994
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of... ORPHA:247768
Biemond Syndrome Type 2
Microphthalmia, Short stature, Obesity, Delayed puberty ORPHA:141333
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Corneal scarring, Growth delay, Hypertension, Bradycardia, Intra... OMIM:614653
Hand-Foot-Genital Syndrome
Miscarriage, Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uteru... ORPHA:2438
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute kidney injury... ORPHA:542323
Mmep Syndrome
Microphthalmia ORPHA:3434
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hypoplasia of eyelid, Renal hypoplasia, Azotemia, Intrauterine growth retardation,... OMIM:619321
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Delaye... ORPHA:330015
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Postnatal growth retardation, Congestive heart failure, Br... ORPHA:90348
Larsen Syndrome
Intrauterine growth retardation, Spina bifida occulta, Corneal opacity, Short stature OMIM:150250
Cowden Syndrome 1
Cataract, Thyroiditis, Angioid streaks of the fundus OMIM:158350
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Cataract, Cerebral atrophy, Growth delay, Cardiomyopathy ORPHA:445038
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Cataract, Small for gestational age, Cerebral atrophy, Growth delay, Arrhythm... OMIM:615471
Chops Syndrome
Cataract, Short stature, Optic atrophy, Obesity, Aspiration pneumonia OMIM:616368
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Ablepharon Macrostomia Syndrome
Growth delay, Umbilical hernia, Corneal erosion, Corneal opacity ORPHA:920
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy, Cataract ORPHA:70595
Donnai-Barrow Syndrome
Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis ORPHA:158000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... ORPHA:2241
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Oliguria... ORPHA:731
Leiomyomatosis, Diffuse, With Alport Syndrome
Failure to thrive, Cataract, Lenticonus, Anterior lenticonus OMIM:308940
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Small scrotum, Cryptorchidism ORPHA:2728
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Elevated amniotic fluid alp... OMIM:249000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Cataract ORPHA:363623
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ... ORPHA:805
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma, Spina bifida OMIM:109400
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cataract, Spina bifida OMIM:616038
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... OMIM:618885
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
14Q22Q23 Microdeletion Syndrome
Epicanthus, Short stature, Renal hypoplasia, Downslanted palpebral fissures, Ptosis ORPHA:264200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Short stature, Absent eyelashes, Renal cyst, Horseshoe kidney, Intrauterine growt... ORPHA:166035
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... OMIM:223900
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal opacity, Decreased body ... OMIM:615273
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Moderate postnatal growth retardation OMIM:118650
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Cataract, Skin rash, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration OMIM:618321
Mend Syndrome
Cataract, Short stature, Macular hypoplasia, Aortic valve stenosis, Anterior polar cataract, Fail... OMIM:300960
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Obesity, Heart murmur OMIM:618653
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... ORPHA:1467
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Epididymitis, Prostatitis, Decreased response to growth hormone stimulation test OMIM:307200
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Intrauterine growth retardation, Cataract, Arterial rupture OMIM:612394
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Decreased nerve conduction velocity, Osteoarthritis, Keratoconjunctivitis sicca, Umb... ORPHA:285
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Cutis Laxa, Autosomal Recessive, Type Iiib
Intrauterine growth retardation, Developmental glaucoma, Cataract OMIM:614438
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Growth delay, Nuclear cataract, Cataract, Short stature OMIM:608885
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Renal agenesis, Short stature, Hypospadias, Almond-shaped palpebral fissure, R... ORPHA:508498
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, A... ORPHA:810
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Meacham Syndrome
Accessory spleen, Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney,... OMIM:608978
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Campomelia, Cumming Type
Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Growth delay, Ciliary body... OMIM:309800
Hallermann-Streiff Syndrome
Proportionate short stature, Congestive heart failure, Uveitis, Developmental cataract, Microphth... ORPHA:2108
Lymphatic Filariasis
Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Abnormality of the scrotum ORPHA:2035
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Skin rash, Elevated circulating creatinine concentration, Glomerular sclerosis, Neph... ORPHA:247691
Progeroid Short Stature With Pigmented Nevi
Cataract, Small for gestational age, Allergic rhinitis, Short stature, Allergic conjunctivitis, D... OMIM:176690
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Abnormal retinal morphology, Short stature, Bilateral microphthalmo... OMIM:610758
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Renal hypoplasia, Delayed puberty ORPHA:3138
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive OMIM:619151
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypoplasia of penis, Short stature, ... ORPHA:110
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Ab... ORPHA:93111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stature, Postnatal g... ORPHA:79345
Saul-Wilson Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Cataract, Short stature OMIM:618150
Holoprosencephaly
Encephalocele, Anophthalmia, Failure to thrive in infancy, Optic atrophy, Spinal dysraphism, Bran... ORPHA:2162
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Failure to thrive, Optic atrophy, Unilateral microphthalmos OMIM:615085
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Postnatal growth retardation, Frontal encephalocele, Severe intrauteri... OMIM:268300
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma ORPHA:2874
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Postnatal growth retardation, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirub... ORPHA:79303
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Keratitis, Weight loss, Aspiration pneumonia, Anterior lenticonus, Failure to thrive ORPHA:1018
Renpenning Syndrome 1
Epicanthus, Telecanthus, Short stature, Hypospadias, Phimosis, Renal hypoplasia, Upslanted palpeb... OMIM:309500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Retinal pigment epithelial mottling, Dilated cardiomyopathy, Weight loss, Mitral regurg... OMIM:607459
Knobloch Syndrome 2
Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Vitreoretinopathy OMIM:618458
Roberts Syndrome
Postnatal growth retardation, Long penis, Severe intrauterine growth retardation, Polycystic kidn... ORPHA:3103
Braddock-Carey Syndrome 1
Growth delay, Multicystic kidney dysplasia, Downslanted palpebral fissures, Telecanthus OMIM:619980
Immunodeficiency 96
Growth delay, Multicystic kidney dysplasia, Eczema, Conjunctival telangiectasia OMIM:619774
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Cataract, Facial palsy, Aortic valve stenosis, Spina bifida occulta ORPHA:2780
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cataract, Microphthalmia, Failure to thrive, Iris coloboma ORPHA:861
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Joubert Syndrome 14
Epicanthus, Highly arched eyebrow, Renal cyst, Growth delay, Downslanted palpebral fissures, Ptosis OMIM:614424
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Growth delay, Megalocornea, Cataract, Cerebral atrophy OMIM:601353
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... ORPHA:31204
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Microphthalmia, Failure to thrive, Ce... OMIM:607932
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Cataract, Short stature, Eczema, Astigmatism, Brain atrophy OMIM:619268
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Cataract ORPHA:306542
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Global brain atrophy OMIM:308350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Epicanthus, Telecanthus, Short stature, Renal cyst, Upslanted palpebral fissure, Downslanted palp... OMIM:617260
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis OMIM:606408
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Growth delay, Precocious puberty, Macroorchidism, Short stature OMIM:619950
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Epicanthus, Short stature, Eczema, Renal hypoplasia, Intraute... OMIM:617157
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Skin rash, Glomerulonephritis, Elevated ... ORPHA:36234
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Down Syndrome
Umbilical hernia, Cataract, Aganglionic megacolon, Obesity ORPHA:870
Mednik Syndrome
Growth delay, Cataract OMIM:609313
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Cataract, Short stature, Cerebral atrophy, Esophagitis, Intrauterine growth r... OMIM:615356
Smith-Lemli-Opitz Syndrome
Cataract, Aganglionic megacolon, Short stature, Sclerocornea, Rhizomelia, Optic atrophy, Growth d... ORPHA:818
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Elevated urinary dopamine level, Elevated circulating creatinine concentration,... ORPHA:230
Koolen-De Vries Syndrome
Cataract, Small for gestational age, Eczema, Short stature, Pulmonic stenosis, Intrauterine growt... OMIM:610443
Seckel Syndrome 2
Small for gestational age, Short stature, Heart murmur, Growth delay, Microphthalmia OMIM:606744
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Blepharophimosis, Severe postnatal growth retardation, Renal hypoplasia, Intrauterine growth reta... OMIM:620005
Oculodentodigital Dysplasia
Cataract, Optic atrophy, Abnormality iris morphology, Microcornea, Umbilical hernia, Arrhythmia ORPHA:2710
Stickler Syndrome
Retinal detachment, Cataract, Short stature, Cachexia, Ectopia lentis, Osteoarthritis, Abnormal v... ORPHA:828
Diaphanospondylodysostosis
Epicanthus, Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Ho... OMIM:608022
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Cachexia, Intrauterine growth retardation ORPHA:1438
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Cataract, Zonular cataract, Short stature ORPHA:168577
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Subaortic Stenosis-Short Stature Syndrome
Acne, Short stature, Obesity, Microphthalmia, Arrhythmia ORPHA:3191
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Highly arched eyebrow,... ORPHA:261494
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Sparse eyebrow, Bilateral cleft lip and palate, Chronic constipatio... OMIM:618829
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Cataract, Short stature, Eczema, Tricuspid regurgitation, Congestiv... ORPHA:508542
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Recurrent intrapulmonary hemorrhage, Short stature, Diffuse alveolar hemorrhage, Art... OMIM:130050
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl... ORPHA:2538
Femoral-Facial Syndrome
Renal agenesis, Short stature, Abnormal renal collecting system morphology, Upslanted palpebral f... OMIM:134780
Thrombocytopenia-Absent Radius Syndrome
Cataract, Short stature, Corneal opacity, Spina bifida, Seborrheic dermatitis OMIM:274000
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Cryptorchidism, Ambiguous genitalia... OMIM:258040
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
Degcags Syndrome
Abnormal eyebrow morphology, Recurrent urinary tract infections, Hypospadias, Bilateral renal dys... OMIM:619488
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Epicanthus, Short stature, Hypospadias, Nephroblastoma, Postnatal g... OMIM:257300
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract OMIM:603457
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Lowe Oculocerebrorenal Syndrome
Short stature, Postnatal growth retardation, Corneal scarring, Developmental cataract, Microphtha... OMIM:309000
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Miller-Dieker Lissencephaly Syndrome
Intrauterine growth retardation, Failure to thrive, Cataract, Recurrent aspiration pneumonia OMIM:247200
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Short stature, Sparse eyebrow, Renal cyst, Horseshoe kidney, Downslanted palpeb... OMIM:250410
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Large for gestational age, Astigmatism, Retinal coloboma, Spina bifida occulta ORPHA:500095
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Cerebellofaciodental Syndrome
Cataract, Short stature OMIM:616202
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Cataract, Conjunctivitis, Short stature ORPHA:94089
Myhre Syndrome
Cataract, Small for gestational age, Short stature, Obesity, Birth length less than 3rd percentil... OMIM:139210
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Beaulieu-Boycott-Innes Syndrome
Endometriosis, Premature ovarian insufficiency, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia, Short stature OMIM:616734
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Elevated circulating luteinizing hor... ORPHA:168558
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Optic disc hypoplasia, Recurrent skin infections, Short stature, Optic... ORPHA:3455
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Optic atrophy, Peters anomaly, Microphthalmia, Intrauterine growth retardation OMIM:616975
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Ulbright-Hodes Syndrome
Abnormal penis morphology, Postnatal growth retardation, Renal hypoplasia, Birth length less than... ORPHA:3404
Fraser Syndrome 1
Encephalocele, Anophthalmia, Corneal opacity, Myelomeningocele, Bilateral microphthalmos OMIM:219000
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Uveitis, Abnormal autonomic nervous system p... ORPHA:548
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Cataract, Disproportionate short-trunk short stature OMIM:272460
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Left ventricular systoli... ORPHA:740
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios... OMIM:267010
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Short stature ORPHA:90153
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Elevated circulating luteinizing hor... ORPHA:289548
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Bilateral microphthalmos, Atrophy/Degeneration... ORPHA:77299
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Renal cortical cysts, Death in infancy OMIM:609180
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Nephropathy, Abnormal circulating C-peptide c... ORPHA:552
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Villous atrophy, Proteinuria, Diarrhea, Steatorrhea, Renal cyst, Nephrotic synd... OMIM:212065
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Diamond-Blackfan Anemia 1
Epicanthus, Short stature, Renal hypoplasia, Intrauterine growth retardation, Downslanted palpebr... OMIM:105650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Ren... OMIM:208500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma ORPHA:3186
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Short stature, Facial palsy, Optic disc coloboma, Pulmonary arterial hypertension... OMIM:620186
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Epicanthus, Telecanthus, Sparse eyebrow, Growth delay, Long eyelash... ORPHA:261349
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, H... ORPHA:2461
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Branchiooculofacial Syndrome
Anophthalmia, Cataract, Facial palsy, Postnatal growth retardation, Nasolacrimal duct obstruction... OMIM:113620
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Eczema, Highly arched eyebrow, Sparse eyebrow, Upsla... ORPHA:1001
Townes-Brocks Syndrome
Cataract, Short stature, Chorioretinal coloboma, Delayed puberty, Limbal dermoid, Microphthalmia,... ORPHA:857
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Conjunctivitis, Renal cyst, Lacrimal duct stenosis OMIM:615560
Genitopalatocardiac Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Multicystic kidney dysplasia, Hy... ORPHA:2075
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Cataract, Cholangitis, Rod-cone dystrophy, Cerebral atrophy, Tubulointerstiti... OMIM:124000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, Abno... ORPHA:1655
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Facial palsy OMIM:157640
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Chorioretinal coloboma OMIM:619135
Yunis-Varon Syndrome
Cataract, Short stature, Sclerocornea, Postnatal growth retardation, Bilateral microphthalmos, Re... ORPHA:3472
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasi... ORPHA:2052
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Cataract, Small for gestational age, Developmental cataract, Pigmentary ... OMIM:606721
Hereditary Fructose Intolerance
Growth delay, Cataract ORPHA:469
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Aspartylglucosaminuria
Macroorchidism, Short stature OMIM:208400
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Short stature OMIM:227650
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Retinal detachment, Abnormal optic chiasm morphology, Cataract, Small for g... ORPHA:268261
3-Methylglutaconic Aciduria, Type Viii
Cataract, Cerebral atrophy, Growth delay, Bradycardia, Failure to thrive OMIM:617248
Coffin-Siris Syndrome 1
Hydroureter, Short stature, Hypospadias, Ectopic kidney, Postnatal growth retardation, Renal hypo... OMIM:135900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Joubert Syndrome 2
Encephalocele, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Fa... OMIM:608091
Aymé-Gripp Syndrome
Pericarditis, Cataract, Short stature, Postnatal growth retardation, Developmental cataract, Mega... ORPHA:1272
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Prominent corneal nerve fibers, Palpitations, Ganglioneuromatosis, Hyperte... ORPHA:653
Trisomy 1Q
Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Charge Syndrome
Anophthalmia, Short stature, Facial palsy, Postnatal growth retardation, Optic atrophy, Chorioret... ORPHA:138
Wilson Disease
Decreased nerve conduction velocity, Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged... OMIM:277900
Vascular Ehlers-Danlos Syndrome
Keratoconus, Short stature, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil... ORPHA:286
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Recurrent urinary tract infections, Renal insufficiency, Short sta... OMIM:194050
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Cataract, Severe short stature, Abnormal T-wave, Failure... ORPHA:444072
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... ORPHA:29073
Witteveen-Kolk Syndrome
Branchial fistula, Cataract, Small for gestational age, Eczema, Short stature, Obesity, Anisocori... OMIM:613406
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... ORPHA:2911
Jacobsen Syndrome
Cataract, Short stature, Eczema, Spina bifida, Cerebral atrophy, Microcornea, Growth delay, Intra... ORPHA:2308
Joubert Syndrome 37
Microphthalmia, Short stature, Obesity OMIM:619185
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio... ORPHA:2473
Osteogenesis Imperfecta
Aortic regurgitation, Small for gestational age, Rhizomelia, Corneal opacity, Short stature, Cere... ORPHA:666
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethriti... ORPHA:2552
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... ORPHA:744
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Epicanthus, Short stature, Abnormality of the kidney, Un... ORPHA:508488
Leptospirosis
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uv... ORPHA:509
Otopalatodigital Syndrome Type 2
Encephalocele, Cataract, Developmental glaucoma, Myelomeningocele, Failure to thrive ORPHA:90652
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Cataract, Retinal dystrophy, Cholangitis, Short stature, Rhizomelia, Macular d... OMIM:266920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Aganglionic megacolon, Short stature, Abnormal pupil morphology, Optic at... ORPHA:261552
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Co... ORPHA:95159
Neu-Laxova Syndrome 1
Cataract, Spina bifida, Short umbilical cord, Brain atrophy, Small placenta, Hydranencephaly, Mic... OMIM:256520
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Cataract, Congestive heart failure, ... ORPHA:90349
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Codas Syndrome
Cataract, Short stature, Developmental cataract OMIM:600373
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Cataract, Short stature, Obesity, Conjunctivitis ORPHA:79444
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Pearson Syndrome
Cataract, Small for gestational age, Cardiac conduction abnormality, Postnatal growth retardation... ORPHA:699
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Short stature OMIM:617883
Dyskeratosis Congenita, X-Linked
Cataract, Short stature, Optic atrophy, Conjunctivitis, Intrauterine growth retardation, Pterygiu... OMIM:305000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Monosomy 18P
Microphthalmia, Short stature, Hypertension ORPHA:1598
Pagod Syndrome
Death in infancy, Multicystic kidney dysplasia, Abnormality of the spleen, Abnormal morphology of... ORPHA:991
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Agammaglobulinemia, X-Linked
Epididymitis, Prostatitis OMIM:300755
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Scalp-Ear-Nipple Syndrome
Hypertension, Cataract, Pyelonephritis ORPHA:2036
Myhre Syndrome
Intrauterine growth retardation, Severe short stature, Cataract, Hypertension ORPHA:2588
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Unil... OMIM:618419
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Momo Syndrome
Short stature, Large for gestational age, Bilateral microphthalmos, Obesity, Chorioretinal coloboma ORPHA:2563
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Peters-Plus Syndrome
Ureteral duplication, Rhizomelia, Hypospadias, Postnatal growth retardation, Renal hypoplasia, Bi... OMIM:261540
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Severe postnatal growth retardation, Long palp... ORPHA:2729
Legius Syndrome
Cataract, Short stature, Paroxysmal atrial tachycardia, Vestibular schwannoma, Pulmonic stenosis,... ORPHA:137605
Elsahy-Waters Syndrome
Megalocornea, Cataract, Increased cup-to-disc ratio, Phthisis bulbi OMIM:211380
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproport... ORPHA:93271
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital megaureter, Ab... ORPHA:369837
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Epicanthus, Multiple renal cysts, Elevated circul... OMIM:618733
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Cataract, Neonatal short-limb short stature ORPHA:50945
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Patent ductus arteriosus, Ureteral stenosis, Renal hypoplasia OMIM:270100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Microphthalmia With Limb Anomalies
Anophthalmia, Postnatal growth retardation, Growth delay, Microphthalmia, Failure to thrive OMIM:206920
Charge Syndrome
Anophthalmia, Cataract, Facial palsy, Postnatal growth retardation, Unilateral microphthalmos, Um... OMIM:214800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Heart And Brain Malformation Syndrome
Cerebral atrophy, Growth delay, Brain atrophy, Microphthalmia, Global brain atrophy OMIM:616920
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial hypoplasia, Vesi... ORPHA:140952
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Short stature, Hypospadias, Renal hypoplasia, Upslanted palpebral fissure, Vesicouret... OMIM:309580
Atelosteogenesis Type I
Telecanthus, Neonatal short-trunk short stature, Rhizomelia, Multiple renal cysts ORPHA:1190
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr... OMIM:269150
X-Linked Intellectual Disability, Armfield Type
Cataract, Short stature, Cerebral cortical atrophy ORPHA:85276
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Moebius Syndrome
Microphthalmia, Facial diplegia OMIM:157900
Frontometaphyseal Dysplasia
Growth delay, Abnormal cornea morphology, Astigmatism, Spina bifida occulta ORPHA:1826
Digeorge Syndrome
Acne, Short stature, Sclerocornea, Seborrheic dermatitis, Recurrent pneumonia, Obesity, Recurrent... OMIM:188400
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy, Failu... OMIM:617403
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Intrauterine growth retardation, Cataract, Failure to thrive in infancy ORPHA:247598
Joubert Syndrome 1
Epicanthus, Highly arched eyebrow, Renal cyst, Nephropathy, Ptosis OMIM:213300
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Epicanthus, Renal cyst, Long palpebral fissure, Nephroblastoma, Bifid ureter, ... OMIM:617107
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate ORPHA:261197
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit... ORPHA:32960
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Fine hair, Gastroesophageal reflux, Hydronephrosis ORPHA:85201
Brucellosis
Small for gestational age, Orchitis, Epididymitis, Hyperhidrosis, Weight loss, Failure to thrive ORPHA:1304
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Unilateral renal agenesis, Endometriosis, Horseshoe... ORPHA:363444
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cataract, Short stature, Pneumonia, Cardiac conduction abnormality, Obesity, Growth delay, Otitis... ORPHA:353281
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Acrocephalopolydactylous Dysplasia
Upslanted palpebral fissure, Epicanthus, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Cranioectodermal Dysplasia 2
Unilateral ptosis, Renal insufficiency, Epicanthus, Rhizomelia, Short stature, Sparse eyelashes, ... OMIM:613610
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Cataract, Sutural cataract, Nuclear pulverulent cataract, Truncal obesity, ... OMIM:612474
Currarino Syndrome
Neurogenic bladder, Urinary incontinence, Septate vagina, Horseshoe kidney, Bicornuate uterus, Re... OMIM:176450
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Marburg Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Elevated circulating creatine kinase concentration,... ORPHA:99826
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgen... OMIM:618820
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Short stature, Cerebral atrophy, Hypertension, Microphthalmia, Failure to thr... OMIM:617729
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Oligozoospermia, Growth delay, Severe postnata... ORPHA:125
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Alg9-Cdg
Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis, Hypoplasia of the ovary, B... ORPHA:79328
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cataract, Short stature OMIM:300990
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Micropenis OMIM:617925
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, V... ORPHA:2745
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Co... ORPHA:79277
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature, Death in infancy ORPHA:1393
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Short stature, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Small for gestational age, Short stature, Anencephaly, Pulmonic stenosis, Micropht... OMIM:619148
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Autosomal Recessive Robinow Syndrome
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Epicanthus, Upslanted palpeb... ORPHA:1507
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Short stature ORPHA:3042
Trisomy 10P
Epicanthus, Abnormality of the kidney, Growth delay, Upslanted palpebral fissure, Multiple renal ... ORPHA:171929
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
D-Bifunctional Protein Deficiency
Upslanted palpebral fissure, Increased circulating very long-chain fatty acid concentration, Epic... OMIM:261515
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Ectopic kidney, Cleft palate, Renal cyst, Anteriorly placed anu... OMIM:117650
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Orofaciodigital Syndrome Xiv
Telecanthus, Epispadias, Unilateral renal hypoplasia, Upslanted palpebral fissure, Micropenis OMIM:615948
3P25.3 Microdeletion Syndrome
Microphthalmia, Pulmonic stenosis ORPHA:435638
Distal Deletion 15Q
Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Abnormal ... ORPHA:1596
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Aganglionic megacolon, Short stature, Astigmatism, Retinal coloboma, Axenfeld anomaly, ... ORPHA:261537
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Brittle hair, Hamartoma of tongue... ORPHA:2750
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Epididymitis ORPHA:183675
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Short stature, Enterocolitis, Growth delay, Astigmatism, Retinal... ORPHA:2152
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... ORPHA:411709
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Sarcoidosis
Abnormal cardiac ventricular function, Cataract, Maculopapular exanthema, Facial palsy, Portal hy... ORPHA:797
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Abnormal vagin... OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Severe short stature, Optic nerve hypoplasia, Eczema, Bila... ORPHA:468631
Rubinstein-Taybi Syndrome 1
Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidism, Cryptorchi... OMIM:180849
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Yellow Fever
Renal insufficiency, Anuria, Skin rash, Elevated circulating creatine kinase concentration, Eleva... ORPHA:99829
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Osteoarthritis, Arterial rupture, Abnormal cornea morphology, Mitral reg... ORPHA:287
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypospadias, Nephroblastoma, Generalized hypertrichosis, Abnormality of th... ORPHA:798
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... OMIM:201750
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Yunis-Varon Syndrome
Cataract, Small for gestational age, Failure to thrive in infancy, Sclerocornea, Heart murmur, Gr... OMIM:216340
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation OMIM:613451
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric... ORPHA:1606
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Popliteal pterygium, Antecubital pterygium OMIM:609945
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Orchitis, Epididymitis, Hyperhidrosis, Adrenal insufficiency, Parotitis ORPHA:99827
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Multicystic kidney dysplasia, Intestinal malrotation, Cleft palate, Gastroesophage... OMIM:300373
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction ORPHA:2717
C Syndrome
Death in infancy, Multicystic kidney dysplasia, Epicanthus, Short stature, Renal hypoplasia/aplas... ORPHA:1308
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Noonan Syndrome 1
Male infertility, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypog... OMIM:163950
Microphthalmia With Limb Anomalies
Short stature, Optic atrophy, Microphthalmia, Failure to thrive, True anophthalmia ORPHA:1106
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction OMIM:248450
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, ... OMIM:181000
Fanconi Anemia, Complementation Group C
Microphthalmia, Small for gestational age, Short stature, Intrauterine growth retardation OMIM:227645
C Syndrome
Patent ductus arteriosus, Renal cortical cysts OMIM:211750
Simpson-Golabi-Behmel Syndrome
Death in infancy, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:373
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... OMIM:618280
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Obe... OMIM:181450
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... OMIM:130650
Fanconi Anemia, Complementation Group E
Microphthalmia, Small for gestational age, Short stature OMIM:600901
Ohdo Syndrome, X-Linked
Microphthalmia, Decreased body weight OMIM:300895
Hajdu-Cheney Syndrome
Telecanthus, Short stature, Hypospadias, Synophrys, Multiple renal cysts, Delayed puberty, Downsl... ORPHA:955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Bicornuate uterus, Neonatal death, Annular pancreas, Hydronep... OMIM:265380
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... ORPHA:199
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Teebi-Shaltout Syndrome
Microphthalmia, Aortic valve stenosis, Short stature OMIM:272950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Beckwith-Wiedemann Syndrome
Ureteral duplication, Vesicoureteral reflux, Cleft palate, Nephrolithiasis, Hypercalciuria, Macro... ORPHA:116
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Obesity, Enuresis, Aplasia/Hypoplasia of ... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Unilateral renal agenes... OMIM:619503
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Short nail, Supernumerary ... OMIM:312870
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Unilateral renal agenesis OMIM:154400
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Fanconi Anemia, Complementation Group D2
Microphthalmia, Small for gestational age, Short stature OMIM:227646
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Small for gestational age, Short stature, Pulmonary arterial hypertensio... OMIM:612289
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Epicanthus, Horseshoe kidney, Multiple renal... ORPHA:3310
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Genitopatellar Syndrome
Sparse scalp hair, Anal stenosis, Multicystic kidney dysplasia, Malrotation of small bowel, Anter... OMIM:606170
Alström Syndrome
Otitis media, Short stature, Portal hypertension, Drusen, Posterior subcapsular cataract, Dilated... ORPHA:64
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia ORPHA:2166
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Branchial anomaly, Limbal dermoid, Microphthalmia OMIM:164210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Micropenis, Ap... ORPHA:672
Cystic Fibrosis
Male infertility, Failure to thrive, Pancreatitis, Exocrine pancreatic insufficiency OMIM:219700
Pallister-Killian Syndrome
Renal dysplasia, Sparse scalp hair, Anal stenosis, Alopecia, Hypospadias, Intestinal malrotation,... OMIM:601803
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ... OMIM:100300
Monosomy 9P
Microphthalmia ORPHA:261112
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Neph... ORPHA:438213
Isolated Arrhinia
Microphthalmia ORPHA:1134
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Treacher Collins Syndrome 1
Bilateral microphthalmos, Lacrimal duct stenosis OMIM:154500
Coffin-Lowry Syndrome
Uterine prolapse, Decreased body weight OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Delayed puberty OMIM:619613
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Pmm2-Cdg
Epicanthus, Proteinuria, Reduced thyroxin-binding globulin, Upslanted palpebral fissure, Nephroti... ORPHA:79318
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795

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 Lgr4

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 Lgr4.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Rspo1/Rspo3-LGR4 signaling inhibits hepatic cholesterol synthesis through the AMPKα-SREBP2 pathway. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (September 2020) Lgr4tm1c(EUCOMM)Hmgu 32926477
LGR4 protects hepatocytes from injury in mouse. American journal of physiology. Gastrointestinal and liver physiology (November 2018) Lgr4tm1c(EUCOMM)Hmgu Lgr4tm1a(EUCOMM)Hmgu 30406697

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lgr4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lgr4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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