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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
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Congenital Rubella Syndrome
Cataract, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Abnormality of retinal... ORPHA:290
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis, Microphthalmia OMIM:156850
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Large for gestational age, Corneal opacity ORPHA:2432
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Short stature, Ectopia lentis ORPHA:2084
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Abnormal optic disc mo... ORPHA:65
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Cataract 44
Developmental cataract OMIM:616509
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Corneal opacity, Opacification of the co... OMIM:252650
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology OMIM:219750
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
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
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior ... ORPHA:279914
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Microphthalmia, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth r... OMIM:616171
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Disproportionate short-trunk short stature, Retinal detachment, ... ORPHA:85194
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Wagr Syndrome
Short stature, Cataract, Obesity, Aplasia/Hypoplasia of the iris ORPHA:893
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
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
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Cerebral atrophy, Microphthalmia, Abnormality of retinal pigmentation, Re... OMIM:251270
Bardet-Biedl Syndrome 18
Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
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
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Short stature, Iris coloboma OMIM:300915
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Nathalie Syndrome
Short stature, Cataract, Arrhythmia ORPHA:2663
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Cataract 7
Developmental cataract OMIM:115660
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Neuhauser Syndrome
Cerebral cortical atrophy, Hypoplasia of the iris, Megalocornea, Iridodonesis, Short stature, Ret... OMIM:249310
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Keratoglobus, Sclerocornea, Fla... OMIM:614170
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Gms Syndrome
Short stature, Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Short Syndrome
Severe short stature, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior ... ORPHA:3163
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short stature, Cataract OMIM:300261
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Winchester Syndrome
Corneal opacity OMIM:277950
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Intellectual Developmental Disorder, X-Linked 2
Short stature, Macroorchidism OMIM:300428
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Xp22.3 Microdeletion Syndrome
Short stature, Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti... OMIM:603165
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy, Truncal obesity ORPHA:75858
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Dysequilibrium Syndrome
Short stature, Cataract ORPHA:1766
Xeroderma Pigmentosum, Complementation Group G
Cataract, Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Chorioretinal coloboma, Hypoplasia of the iris, Intrauterine growth retarda... ORPHA:1422
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Short stature, Growth delay ORPHA:2528
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked po... OMIM:109120
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Cofs Syndrome
Cataract, Optic atrophy, Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality ... ORPHA:1466
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Failure to thrive, Growth d... ORPHA:411629
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalm... ORPHA:324416
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Donnai-Barrow Syndrome
Cataract, Umbilical hernia, Hypoplasia of the iris, Retinal detachment, Iris coloboma, Retinal dy... OMIM:222448
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death, Juvenile cataract OMIM:212500
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Gm1-Gangliosidosis, Type Iii
Short stature, Opacification of the corneal stroma, Diffuse cerebral atrophy, Cherry red spot of ... OMIM:230650
Spastic Paraparesis And Deafness
Short stature, Cataract OMIM:312910
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Cerebellar atrophy OMIM:617133
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia, Short stature, Spina bifida occulta, Opacification of the co... OMIM:169550
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Microphthalmia, Growth delay, Small for... ORPHA:1617
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Miosis, Retinal detachment, ... OMIM:212550
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Mydriasis ORPHA:247815
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Miscarriage ORPHA:99927
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Obesity, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Congenital Varicella Syndrome
Cataract, Intrauterine growth retardation, Cerebral cortical atrophy, Microphthalmia ORPHA:291
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Otodental Syndrome
Cataract, Microcornea, Otitis media with effusion, Periodontitis, Retinal coloboma, Microphthalmi... ORPHA:2791
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Short stature, Retinal fold, Kerat... OMIM:108145
Brachyolmia Type 1, Toledo Type
Disproportionate short-trunk short stature, Opacification of the corneal stroma, Childhood-onset ... OMIM:271630
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Brachyolmia Type 1, Hobaek Type
Disproportionate short-trunk short stature, Opacification of the corneal stroma, Corneal opacity OMIM:271530
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Grow... ORPHA:782
Gillespie Syndrome
Aniridia, Cerebellar atrophy, Hypoplasia of the iris OMIM:206700
Gómez-López-Hernández Syndrome
Short stature, Corneal opacity ORPHA:1532
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Obesity, Rod-cone dystrophy, Microphthalmia OMIM:601794
Spastic Paraparesis-Deafness Syndrome
Short stature, Cataract ORPHA:2815
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Aniridia 3
Cataract, Aniridia OMIM:617142
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Ectopia lentis, Short stature, Shallow anterior chamber... OMIM:614819
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Brittle Cornea Syndrome
Corneal scarring, Pulmonic stenosis, Decreased corneal thickness, Retinal detachment, Corneal dys... ORPHA:90354
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Corneal neovascularization, Punctate keratitis, Keratoconjunctivitis sicca, Gr... OMIM:617388
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Growth delay OMIM:244600
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Stickler Syndrome, Type V
Short stature, Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Microphthalmia, Abnormal vitreous humor morphology, Retinal detachme... ORPHA:2788
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Intrauterine growth retardation, Chorioretinal coloboma ORPHA:2489
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Trisomy 13
Cataract, Optic atrophy, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophth... ORPHA:3378
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e... OMIM:270200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Retinal dystrophy, Truncal obesity OMIM:610156
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Intrauterine growth retardation, Corneal opacity ORPHA:2370
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Trichomegaly
Cataract OMIM:190330
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Intestinal Botulism
Mydriasis ORPHA:178481
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Moderate intrauterine growth retardation, Severe postnatal growth retardation, Abnormal optic dis... ORPHA:293967
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the iris, Intrauteri... OMIM:251300
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr... OMIM:278730
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Microphthalmia, Short stature, Iris colo... ORPHA:195
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Mucolipidosis Type Iii
Short stature, Acne, Corneal opacity ORPHA:577
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Cerebral atrophy, Concentric hypertrophic cardiomy... OMIM:204200
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Corneal opacity, Microphthalmia OMIM:613153
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Ectopia Lentis 1, Isolated, Autosomal Dominant
Retinal detachment, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension ORPHA:254509
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea OMIM:617272
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Short st... OMIM:613195
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... OMIM:267760
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Severe short stature, Cherry re... OMIM:256540
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Cataract, Small for gestational age ORPHA:85288
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypopigmentation of the fundus, Cerebellar atrophy, Hypoplasia of ... OMIM:175780
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Sialidosis Type 2
Short stature, Umbilical hernia, Abnormal macular morphology, Corneal opacity ORPHA:87876
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Cataract, Failure to thrive ORPHA:2278
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea... OMIM:615145
Norrie Disease
Cataract, Optic atrophy, Cerebral cortical atrophy, Ectopia lentis, Failure to thrive, Hypoplasia... ORPHA:649
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus... ORPHA:542306
Pyknoachondrogenesis
Stillbirth OMIM:265880
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, Short stature, Iris coloboma OMIM:610023
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Infant Botulism
Hypotension, Mydriasis, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chronic otitis ... ORPHA:178478
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis OMIM:615225
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Spina bifida, Glomerulonephritis, Antecubital ... OMIM:161200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Von Hippel-Lindau Syndrome
Pheochromocytoma, Multiple renal cysts, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancre... OMIM:193300
Nathalie Syndrome
Cataract, Growth delay, Abnormal EKG OMIM:255990
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Microphthalmia ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Developmental cataract, Microphthalmia, Abnormal left ventricular function, Facia... OMIM:613155
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Failure to thrive, Cerebral atrophy, Developmental cataract, Micropht... OMIM:600118
Erythrokeratodermia Variabilis
Cataract, Skin rash, Weight loss, Corneal opacity, Short stature ORPHA:317
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an... ORPHA:79098
Short Syndrome
Cataract, Megalocornea, Intrauterine growth retardation, Rieger anomaly, Astigmatism, Birth lengt... OMIM:269880
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... ORPHA:52901
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... OMIM:618815
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Comedonal acne, Absent foveal reflex, Iris coloboma, Ret... OMIM:615147
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Kniest Dysplasia
Cataract, Disproportionate short stature, Vitreoretinopathy, Degenerative vitreoretinopathy, Disp... ORPHA:485
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Failure to thrive, Intrauterine growth retardation, Opacificati... OMIM:214110
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Botulism
Mydriasis, Arrhythmia ORPHA:1267
Harel-Yoon Syndrome
Optic atrophy, Cerebellar atrophy, Hypertrophic cardiomyopathy, Developmental cataract, Corneal o... OMIM:617183
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovasculari... OMIM:158310
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Cerebral cortical atrophy ORPHA:401830
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure,... OMIM:620609
Galactosemia Ii
Cataract OMIM:230200
Foodborne Botulism
Mydriasis, Arrhythmia ORPHA:228371
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Inhalational Botulism
Mydriasis ORPHA:254504
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Developmental And Epileptic Encephalopathy 35
Cataract, Cerebral atrophy, Cardiomyopathy, Intrauterine growth retardation, Brain atrophy OMIM:616647
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cockayne Syndrome B
Severe short stature, Optic atrophy, Microcornea, Pigmentary retinopathy, Abnormal auditory evoke... OMIM:133540
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmentation of the fundus, Ocular albinism, Hypoplasia of the iris, H... OMIM:611584
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, ... OMIM:616188
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Dubowitz Syndrome
Eczematoid dermatitis, Hypoplasia of the iris, Megalocornea, Postnatal growth retardation, Intrau... OMIM:223370
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Short stature, Cataract ORPHA:1380
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Obesity, Attenuation of retinal blood... ORPHA:791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Miller Fisher Syndrome
Mydriasis, Anisocoria, Facial palsy ORPHA:98919
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Corneal opacity, Short stature, Rhinitis ORPHA:93476
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Short stature, Hypertension, Retinal dystrophy ORPHA:3156
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Mydriasis, Retinal infarction, Hypertension OMIM:613834
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve... ORPHA:2119
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Primary congenital glaucoma, Rieger anomaly, Retinal detachment ORPHA:521445
Immunodeficiency 10
Recurrent otitis media, Recurrent pneumonia, Hypoplasia of the iris OMIM:612783
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic atrophy, Renal cyst, Atretic... OMIM:137920
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Umbilical hernia, Telangiectasia ... ORPHA:2092
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Short stature, Optic nerve hypoplasia ORPHA:401777
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Cystinosis, Nephropathic
Pigmentary retinopathy, Corneal crystals, Retinal pigment epithelial mottling, Failure to thrive,... OMIM:219800
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
3Q29 Microduplication Syndrome
Cataract, Aniridia, Obesity, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Hypertrophic cardiomyopathy, Delayed puberty, Cornea... ORPHA:496790
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Rheumatoid arthritis, Failure to thrive, Knee osteoarthritis, Severe ... ORPHA:85410
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Intrauterine growth retardation, Rieger anomaly, Decreased body weight, Tru... OMIM:270450
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Lissencephaly 8
Optic atrophy, Cataract, Occipital encephalocele, Microphthalmia OMIM:617255
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Chronic otitis media, Hypoplasia of the iris ORPHA:169090
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Failure to thrive, Growth delay, Hypovolemia ORPHA:411634
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Microphthalmia OMIM:613730
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Opacification of the corneal stroma, Small for gestational age OMIM:215250
Kid Syndrome
Posterior blepharitis, Keratitis, Failure to thrive, Folliculitis, Acne inversa, Postnatal growth... ORPHA:477
Trisomy 12P
Short stature, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye ORPHA:1699
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Cerebral cortical atrophy, Intrauterine growth retardation, Abnormality of... ORPHA:48431
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Serotonin Syndrome
Hypotension, Mydriasis, Abnormality of the autonomic nervous system, Tachycardia, Hypertension ORPHA:43116
Microtriplication 11Q24.1
Short stature, Keratoconus, Obesity ORPHA:289522
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Oculo-Palato-Cerebral Syndrome
Cataract, Global brain atrophy, Intrauterine growth retardation, Leukocoria, Frontal cortical atr... ORPHA:2714
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Developmental cataract ORPHA:1383
Kahrizi Syndrome
Short stature, Cataract, Iris coloboma OMIM:612713
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Partington Syndrome
Macroorchidism ORPHA:94083
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma ORPHA:2611
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Chorioretina... ORPHA:899
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Short stature, Cataract, Band keratopathy, Growth delay OMIM:604278
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Short stature ORPHA:250984
Oliver-Mcfarlane Syndrome
Severe short stature, Pigmentary retinopathy, Central heterochromia, Retinal degeneration, Delaye... OMIM:275400
Wagro Syndrome
Cataract, Aniridia, Obesity, Corneal opacity, Hypertension OMIM:612469
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Cerebral cortical atrophy, Pneumonia, Cerebellar atrophy, Corneal... ORPHA:309288
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal optic nerve morphology, Umbilical hernia, Megalocornea, Tricuspid regurgitation, Aniridi... ORPHA:1101
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
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
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Cataract, Small for gestational age, Decreased body weight OMIM:618392
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Retinopathy, Retinal degeneration, Severely reduced left ve... OMIM:252600
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Cerebral atrophy, Short stature, Optic disc pallor, Facial palsy, Growt... OMIM:259720
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Umbilical hernia, Axenfeld anomaly, Telangiectasia, Poste... OMIM:612582
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve con... ORPHA:585
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Severe short stature, Rhizomelia, Ectopia pupillae, Retinal thinning, Macular atrophy, Abnormalit... ORPHA:85167
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia OMIM:615993
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Microphthalmia, Short stature, Retinal dystrophy, Optic nerv... OMIM:610125
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short stature, Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Vitelliform-like macular lesions, Retinal nonattachment, Choroideremia ORPHA:99000
Nephroblastoma
Aniridia, Weight loss, Hypertension ORPHA:654
17Q11.2 Microduplication Syndrome
Short stature, Macroorchidism ORPHA:139474
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle... ORPHA:91348
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Myelomeningocele, Heterochromia iridis, Blue irides, Spina bifida... OMIM:193500
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Hyperhidrosis, Multiple renal cysts, Epi... ORPHA:892
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cerebellar vermis atrophy, Cataract, Growth delay, Cerebral atrophy OMIM:616154
Cerebrooculofacioskeletal Syndrome 2
Cataract, Intrauterine growth retardation, Developmental cataract, Microphthalmia, Growth delay, ... OMIM:610756
Atkin-Flaitz Syndrome
Short stature, Macroorchidism ORPHA:1193
Duane Retraction Syndrome
Microcornea, Optic disc hypoplasia, Central heterochromia, Chorioretinal coloboma, Aniridia, Abno... ORPHA:233
Galactose Epimerase Deficiency
Cataract, Weight loss, Growth delay ORPHA:79238
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Sialidosis Type 1
Cataract, Cherry red spot of the macula, Decreased nerve conduction velocity, Retinopathy, Cornea... ORPHA:812
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal t... OMIM:608940
Martsolf Syndrome 2
Cataract, Decreased body weight, Developmental cataract, Short stature, Brain atrophy OMIM:619420
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Marfan Syndrome
Aortic regurgitation, Increased axial length of the globe, Ectopia lentis, Abnormal left ventricu... ORPHA:558
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Corneal opacity, Short stature, Heart murmur, Growth delay ORPHA:1867
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Micropenis, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Chronic mucocutaneous candidiasis ORPHA:3453
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Optic nerve compression, Phthisis bulbi, Short stature, Optic neuropathy OMIM:619727
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to... ORPHA:137675
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, R... OMIM:256800
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Retinal dystrophy, Decreas... OMIM:618175
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Failure to thrive, Cerebral atrophy, Erythroderma, Short stature, Conjunctivitis OMIM:242150
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Intestinal Dysmotility Syndrome
Cataract, Weight loss, Failure to thrive OMIM:620045
Developmental And Epileptic Encephalopathy 73
Cataract, Failure to thrive OMIM:618379
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... OMIM:613310
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Blau Syndrome
Cataract, Nongranulomatous uveitis, Band keratopathy, Eczematoid dermatitis, Abnormal cranial ner... OMIM:186580
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Umbilical hernia, Cherry red spot of the macula, Abnormal EKG, Hypoplasi... ORPHA:93400
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Narrow palpebral fissure, Stillb... OMIM:236500
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Spondyloepiphyseal Dysplasia, Maroteaux Type
Short stature, Opacification of the corneal stroma OMIM:184095
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Failure to thrive, Cerebral atrophy OMIM:617393
Oculopalatocerebral Syndrome
Short stature, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Alagille Syndrome
Keratoconus, Failure to thrive, Intrauterine growth retardation, Abnormal pupil morphology, Telan... ORPHA:52
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor, Cerebral cortical atrophy ORPHA:3173
1Q21.1 Microduplication Syndrome
Cataract, Failure to thrive ORPHA:250994
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Disproportionate short-trunk short stature, Postnatal growth retardation, Hip osteoarthritis, Opa... OMIM:313400
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Failure to thrive, Umbilical hernia OMIM:251290
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Failure to thrive in infancy, Pancreatitis, Reduced systolic fu... OMIM:618805
Mucopolysaccharidosis Type 6
Failure to thrive, Disproportionate short-trunk short stature, Sinusitis, Opacification of the co... ORPHA:583
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma... OMIM:602499
Tangier Disease
Opacification of the corneal stroma, Facial diplegia, Myocardial infarction OMIM:205400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... OMIM:618086
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Short stature, Cataract, Umbilical hernia ORPHA:1373
Marfan Syndrome
Aortic regurgitation, Cataract, Microspherophakia, Increased axial length of the globe, Ectopia l... OMIM:154700
Pierpont Syndrome
Microcornea, Atrophy/Degeneration affecting the central nervous system, Small for gestational age... ORPHA:487825
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens... OMIM:218340
Lissencephaly 5
Optic atrophy, Cataract, Occipital encephalocele OMIM:615191
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic atrophy, Abnormality iris morphology, Occipital encephalocele, Cardiomyopathy, Me... ORPHA:370959
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Eczematoid dermatitis, Failure to thrive, Microphthalmia OMIM:612379
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus OMIM:617661
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive, Cardiomyopathy ORPHA:67048
Alexander Disease
Microcoria OMIM:203450
Oculomaxillofacial Dysostosis
Short stature, Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Umbilical hernia OMIM:601499
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Decreased body weight, Microphthalmia, Iris transillumination defect, Shor... OMIM:617306
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Scleritis, Weight loss, Tubuloin... ORPHA:91500
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spermatogenic Failure 17
Male infertility OMIM:617214
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Cerebral cortical atrophy, Cerebellar atrophy, Decreased motor nerve ... OMIM:615663
Cystinosis
Failure to thrive, Portal hypertension, Retinopathy, Delayed puberty, Corneal opacity, Short stature ORPHA:213
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, C... ORPHA:404454
Achondrogenesis Type 2
Cataract, Abnormal vitreous humor morphology, Retinal detachment, Lens subluxation, Short stature ORPHA:93296
Farber Disease
Macular degeneration, Failure to thrive, Cherry red spot of the macula, Arthritis, Corneal opacit... ORPHA:333
Arachnoid Cyst
Mydriasis, Cranial nerve compression, Encephalocele, Subarachnoid hemorrhage, Facial palsy ORPHA:2356
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Bardet-Biedl Syndrome 9
Cataract, Obesity, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone ... OMIM:615986
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Eales Disease
Epistaxis, Macular edema, Myelopathy, Anterior uveitis, Rubeosis iridis, Retinal thinning, Periph... ORPHA:40923
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Warburg Micro Syndrome 3
Cataract, Microcornea, Optic atrophy, Cerebral cortical atrophy, Postnatal growth retardation, De... OMIM:614222
Stickler Syndrome Type 1
Cataract, Abnormal vitreous humor morphology, Retinal detachment, Osteoarthritis ORPHA:90653
Bickerstaff Brainstem Encephalitis
Pneumonia, Mydriasis, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of... ORPHA:79138
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Umbilical hernia, Corneal opacity ORPHA:93399
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Fragile X Syndrome
Macroorchidism, postpubertal, Periventricular heterotopia, Congenital macroorchidism OMIM:300624
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid ORPHA:2969
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Intrauterine growth retardation, Vesicoureteral refl... ORPHA:85284
Mucolipidosis Iii Gamma
Short stature, Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma OMIM:252605
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Joubert Syndrome 9
Cataract, Encephalocele, Astigmatism, Retinal dystrophy OMIM:612285
Rodrigues Blindness
Sclerocornea, Microcornea, Short stature, Microphthalmia OMIM:268320
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Gomez-Lopez-Hernandez Syndrome
Short stature, Opacification of the corneal stroma OMIM:601853
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Cataract OMIM:620461
Gracile Bone Dysplasia
Short stature, Aniridia, Failure to thrive, Microphthalmia OMIM:602361
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Chorioretinal coloboma, Op... ORPHA:163937
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Dilated cardiomyopathy, Intrauterine growth retardation, Retinal dysplasia ORPHA:272
Knobloch Syndrome 1
Band keratopathy, Occipital encephalocele, Vitreoretinopathy, Cerebral atrophy, Cerebellar atroph... OMIM:267750
Micro Syndrome
Cataract, Microcornea, Optic atrophy, Cerebral cortical atrophy, Retinal coloboma, Intrauterine g... ORPHA:2510
Pierpont Syndrome
Microcornea, Failure to thrive, Decreased body weight, Microphthalmia, Short stature OMIM:602342
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Irregular menstruation ORPHA:180229
Meckel Syndrome
Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Encephalocele... ORPHA:564
Alternating Hemiplegia Of Childhood
Mydriasis, Failure to thrive, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Ar... ORPHA:2131
Even-Plus Syndrome
Severe short stature, Highly arched eyebrow, Renal hypoplasia, Atopic dermatitis, Recurrent urina... OMIM:616854
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Cerebellar atrophy, Obesity, Abnormality of retinal pigmentation, Short stature ORPHA:3085
Alpha-Mannosidosis
Cataract, Chronic otitis media, Arthritis, Corneal opacity ORPHA:61
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Retinal degeneration, Abnormally large globe, Microphthalmia OMIM:615249
Pituitary Apoplexy
Hypotension, Mydriasis, Hypertension ORPHA:95613
Syndromic Recessive X-Linked Ichthyosis
Short stature, Corneal opacity ORPHA:281090
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Zellweger Syndrome
Cataract, Optic atrophy, Failure to thrive, Posterior embryotoxon, Corneal opacity, Short stature... ORPHA:912
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardation, Hydronephro... ORPHA:1745
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Umbilical hernia, Neurodegeneration, Recurrent otitis media... OMIM:607014
Cataract 48
Cataract, Miosis OMIM:618415
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Refsum Disease
Cataract, Cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Microphthalmia, Miosi... ORPHA:773
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Obesity OMIM:194072
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Corneal opacity, Short stature OMIM:272200
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Short stature, C... ORPHA:1806
Infantile Refsum Disease
Cataract, Optic atrophy, Failure to thrive, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Short... ORPHA:772
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Hypertension, Orthostatic hypoten... ORPHA:1764
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Posterior embryotoxon, Disproportionate short-limb short stature, Hypopl... OMIM:619194
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Short stature, Cataract ORPHA:3433
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract OMIM:615458
Stickler Syndrome, Type Iv
Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Short statu... OMIM:614134
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Cocaine Intoxication
Mydriasis, Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tubu... ORPHA:90068
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Inflammatory abnormality ... ORPHA:816
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Retinal detachment, Microphthalmia, Iris coloboma ORPHA:2712
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Neonatal Adrenoleukodystrophy
Short stature, Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:231169
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma, Encephalocele ORPHA:3374
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Encephalocele, Microphthalmia, Short stature, Brushfield s... ORPHA:1791
Warburg Micro Syndrome 2
Cataract, Microcornea, Optic atrophy, Global brain atrophy, Postnatal growth retardation, Develop... OMIM:614225
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Cataract OMIM:617404
Cataract 47
Cataract, Microcornea OMIM:612018
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Subcapsular cat... OMIM:612674
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Mydriasis, Pyelonephritis, Peritonitis, Elevated pulmonary artery pressure OMIM:619351
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Intrauterine growth retardation, Postnatal growth ... OMIM:616733
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Peters anomaly, Chorioretinal coloboma, Postnatal growth retardation, Intrauterine... ORPHA:494344
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Hadziselimovic Syndrome
Short stature, Epicanthus, Renal hypoplasia, Ptosis OMIM:612946
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Umbilical hernia OMIM:175700
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Short stature, ... ORPHA:2719
Zika Virus Disease
Myelitis, Optic disc hypoplasia, Retinal pigment epithelial mottling, Intrauterine growth retarda... ORPHA:448237
Prune1-Related Neurological Syndrome
Cataract, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Hypertrophic cardiomyopathy, Retin... ORPHA:544469
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Macroorchidism ORPHA:3077
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Cerebral cortical atrophy, Delayed menarche, O... ORPHA:72
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens... ORPHA:42775
Vogt-Koyanagi-Harada Disease
Short stature, Cataract, Retinal detachment ORPHA:3437
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Cerebellar atrophy, Failure to thrive, Enterocolitis, Microphthalmia OMIM:301108
Non-Functioning Pituitary Adenoma
Hypopituitarism, Decreased fertility in females, Female hypogonadism, Decreased fertility in male... ORPHA:91349
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Retinal degeneration, Arrhythmia, Rod-cone dy... OMIM:266500
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Rudiger Syndrome
Ureterovesical stenosis, Death in infancy, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy, Cerebellar atrophy, Decreased nerve conduction v... OMIM:610651
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Umbilical hernia, Congestive heart failure, Retinopathy, Microphthalmia, Short stature ORPHA:2505
Mietens Syndrome
Severe short stature, Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Microcephaly 10, Primary, Autosomal Recessive
Cataract, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Small for gestat... OMIM:615095
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Pigmentary retinopathy, Optic atrophy, Cerebellar atrophy, Failur... OMIM:614866
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy OMIM:615352
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea OMIM:615877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Mevalonic Aciduria
Short stature, Cataract, Cerebral cortical atrophy ORPHA:29
Kapur-Toriello Syndrome
Cataract, Retinal coloboma, Intrauterine growth retardation, Microphthalmia, Iris coloboma OMIM:244300
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Short stature, Cataract ORPHA:85172
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Dyschondrosteosis-Nephritis Syndrome
Short stature, Mesomelic short stature, Intrauterine growth retardation, Corneal opacity ORPHA:1765
Carpenter Syndrome 1
Optic atrophy, Microcornea, Cerebral atrophy, Umbilical hernia, Obesity, Short stature, Spina bif... OMIM:201000
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Galactose Mutarotase Deficiency
Cataract, Failure to thrive ORPHA:570422
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Severe postnatal growth retardation, ... ORPHA:2399
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Rhizomelia, Microphthalmia ORPHA:93267
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Failure to thrive, Microphthalmia ORPHA:2328
Adams-Oliver Syndrome 2
Cerebral atrophy, Optic atrophy, Developmental cataract, Microphthalmia OMIM:614219
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy OMIM:617481
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Sinus tachycardia, Congestive heart failure, Cranial nerve compress... ORPHA:29072
Rauch-Steindl Syndrome
Highly arched eyebrow, Bilateral renal hypoplasia, Hyperechogenic kidneys, Postnatal growth retar... OMIM:619695
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Myelomeningocele, Intrauterine growth retardation, Aplasia/Hypoplasia af... ORPHA:1914
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Scorpion Envenomation
Acute pancreatitis, Mydriasis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bun... ORPHA:466677
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Growth delay, Decreased nerve conduction velocity OMIM:614932
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Short stature, Co... OMIM:219150
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Microphthalmia OMIM:614105
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Intrauterine growth ret... OMIM:617595
Floating-Harbor Syndrome
Varicocele, Umbilical hernia, Glandular hypospadias, Cryptorchidism, Inguinal hernia, Epididymal ... OMIM:136140
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Femoral-Facial Syndrome
Long penis, Upslanted palpebral fissure, Renal hypoplasia/aplasia, Short stature, Abnormal locali... ORPHA:1988
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... OMIM:615184
Lathosterolosis
Cataract, Microcornea, Failure to thrive, Intrauterine growth retardation, Cerebellar cortical at... ORPHA:46059
Stickler Syndrome, Type Ii
Cataract, Abnormal vitreous humor morphology, Retinal detachment OMIM:604841
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cervical myelopathy, Cataract, Abnormal auditory evoked potentials, Growth delay, Cerebellar atro... OMIM:619260
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Retinal coloboma, Astigmatism, Microphthalmia, Short stature OMIM:618571
22Q11.2 Deletion Syndrome
Cataract, Optic atrophy, Gastrointestinal hemorrhage, Hypertensive crisis, Failure to thrive, Umb... ORPHA:567
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:614376
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Oculoectodermal Syndrome
Microcornea, Growth delay, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, C... OMIM:600268
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Cerebellar atrophy OMIM:619780
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Cerebral cortical atrophy, Keratoconjunctivitis sicca, Microphthalmia... OMIM:234050
Mulibrey Nanism
Pigmentary retinopathy, Growth delay, Congestive heart failure, Intrauterine growth retardation, ... OMIM:253250
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Short stature, Cataract, Cerebellar atrophy OMIM:224050
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Pigmentary retinopathy, Cerebral cortical atrophy, Failure to thrive, Opacification of ... OMIM:214100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at... OMIM:253280
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Costello Syndrome
Keratoconus, Cerebral cortical atrophy, Failure to thrive in infancy, Hypertrophic cardiomyopathy... ORPHA:3071
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Cerebellar atrophy, Tortuosity of conjunctival vessels ORPHA:284289
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Schimke Immunoosseous Dysplasia
Intrauterine growth retardation, Transient ischemic attack, Cerebral ischemia, Astigmatism, Hyper... OMIM:242900
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Short palpebral fissure, Lower eyelid coloboma, Blep... OMIM:608572
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Epididym... ORPHA:2044
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Cerebral cortical atrophy OMIM:619527
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Laurence-Moon Syndrome
Short stature, Cataract, Obesity, Iris coloboma ORPHA:2377
Cerebrooculofacioskeletal Syndrome 1
Cataract, Recurrent pneumonia, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Brain at... OMIM:214150
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Enterocolitis OMIM:620425
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Microphthalmia, Corneal opacity, Scleroco... ORPHA:284160
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Subcapsular cataract, Rod-cone dyst... OMIM:268020
Hypomelanosis Of Ito
Cataract, Iris coloboma, Cerebral atrophy OMIM:300337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Occipital encephalocele, Megalocornea, Retinal atrophy, ... OMIM:236670
Xeroderma Pigmentosum
Cataract, Optic atrophy, Cerebral cortical atrophy, Keratitis, Failure to thrive, Pterygium, Conj... ORPHA:910
Nephronophthisis 11
Anisocoria, Growth delay, Retinal degeneration OMIM:613550
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Postnatal growth retardation, Intrauterine growth retardation, Developmenta... OMIM:616603
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Disproportionate short stature, Retinal detachment ORPHA:1856
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Trisomy 17P
Growth delay, Downslanted palpebral fissures, Intrauterine growth retardation, Hydronephrosis, Br... ORPHA:261290
Incontinentia Pigmenti
Cataract, Cerebral cortical atrophy, Keratitis, Umbilical hernia, Congestive heart failure, Cereb... ORPHA:464
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Umbilical hernia, Retinal detachment, Short stature, Iris coloboma OMIM:617662
Al-Gazali Syndrome
Sclerocornea, Recurrent pneumonia, Failure to thrive, Corneal opacity OMIM:609465
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Retinal detachment, Hypopigmentation of the fundus, Microphthalmia ORPHA:163649
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Downslanted palpebral fissures, Intrauterine growth retardation, Epicanthus, De... OMIM:616817
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Cataract, Decreased motor nerve conduction velocity, Cerebral atrophy OMIM:619851
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Rhinitis, Corneal opacity ORPHA:93474
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia OMIM:618914
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Srd5A3-Cdg
Cataract, Optic atrophy, Cerebellar atrophy, Optic disc hypoplasia, Rod-cone dystrophy ORPHA:324737
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Cataract, Failure to thrive OMIM:617228
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Microphthalmia, Sclerocornea,... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Rod-cone dystrophy OMIM:614879
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Delayed puberty, Erysipelas, Growth delay OMIM:615704
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Flynn-Aird Syndrome
Cataract, Cachexia, Cerebral cortical atrophy, Rod-cone dystrophy ORPHA:2047
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Cervical myelopathy, Mitral regurgitation, Disproportionate short-trunk sh... OMIM:253010
Ichthyosis, Congenital, Autosomal Recessive 11
Blepharitis, Corneal opacity OMIM:602400
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Death in infancy OMIM:258320
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Cataract, Delayed puberty ORPHA:2410
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Failure to thrive, Chorioretinal coloboma, Postnatal growth retardation, M... OMIM:243310
Microphthalmia, Lenz Type
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Microphthalmia, Short stature... ORPHA:568
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Gapo Syndrome
Keratoconus, Optic atrophy, Umbilical hernia, Short stature, Growth delay ORPHA:2067
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Failure to thrive, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Peroxisome Biogenesis Disorder 8B
Cataract, Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebellar vermis atrophy, Corpus... OMIM:614877
Baralle-Macken Syndrome
Cataract, Obesity, Global brain atrophy OMIM:619255
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Gapo Syndrome
Keratoconus, Optic atrophy, Umbilical hernia, Megalocornea, Retinal arteriolar tortuosity, Facial... OMIM:230740
Xp22.13P22.2 Duplication Syndrome
Short stature, Macroorchidism, Polycystic ovaries ORPHA:284180
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Plague
Mydriasis, Hypotension, Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin ras... ORPHA:707
Odontochondrodysplasia 1
Nephronophthisis, Mesomelic short stature, Death in infancy, Short stature, Polycystic kidney dys... OMIM:184260
Isolated Atp Synthase Deficiency
Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Ptosis, Hyperalaninemia, Short sta... ORPHA:254913
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Cardiomyopathy OMIM:301075
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicu... OMIM:609033
4H Leukodystrophy
Cataract, Optic atrophy, Cerebellar atrophy, Delayed puberty, Short stature ORPHA:289494
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Microphthalmia, Sclerocornea, Growth delay OMIM:614230
Phenylketonuria
Cataract, Eczematoid dermatitis, Blue irides OMIM:261600
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Cataract, Intrauterine growth retardation ORPHA:2643
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Growth delay ORPHA:77298
Weill-Marchesani Syndrome
Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Short stature, Pulmonic st... ORPHA:3449
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Micropenis, Hypospadias, Patent ductus arteriosus ORPHA:171839
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Retinal detachment, I... OMIM:107320
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Mucopolysaccharidosis, Type Iva
Disproportionate short-trunk short stature, Recurrent pneumonia, Opacification of the corneal str... OMIM:253000
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Intrauterine growth retardation, Astigmatism, Corneal opacity, Short statur... OMIM:301056
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... OMIM:608836
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Revesz Syndrome
Intrauterine growth retardation, Leukocoria, Exudative retinopathy, Megalocornea OMIM:268130
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Umbilical hernia, Congestive heart failure, Postnatal growth retardation, R... ORPHA:423461
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,... OMIM:242530
Frontonasal Dysplasia 1
Cranium bifidum occultum, Cataract, Anterior basal encephalocele, Microphthalmia OMIM:136760
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia OMIM:266810
Achromatopsia 3
Cataract OMIM:262300
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Small for gestational age, Developmental cataract, Microphthalmia OMIM:618804
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Intrauterine growth retardation, Developmental cataract, Microphthal... OMIM:616395
Hurler-Scheie Syndrome
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Pulmonary arterial hypertension, Co... OMIM:607015
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Epicanthus, Aplasia/Hypoplasia of the eyebrow, Short stature, Polyc... OMIM:614091
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Lcat Deficiency
Corneal opacity ORPHA:650
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Cerebral cortical atrophy ORPHA:101006
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Psoriasiform dermatitis, Delayed puberty, Developmental cataract, Short statur... OMIM:616834
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Cockayne Syndrome A
Cataract, Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Retinal pigment epithelial m... OMIM:216400
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Cataract, Microspherophakia, Ectopia lentis, Mitral regurgitation, Proport... OMIM:277600
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Cerebral atrophy, Microphthalmia, Growth delay OMIM:274270
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Pigmentary retinopathy, Peters anomaly, Histiocytoid ca... OMIM:309801
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Telecanthus, Renal insufficiency, Epicanthus, Blepharophimosis, Short stature, ... ORPHA:85321
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Chorioretinal atrophy, Foveoschisis OMIM:258870
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal... OMIM:300424
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Short statu... OMIM:268315
Muscle-Eye-Brain Disease
Cataract, Meningocele, Optic atrophy ORPHA:588
Sanjad-Sakati Syndrome
Postnatal growth retardation, Astigmatism, Corneal opacity, Severe intrauterine growth retardatio... ORPHA:2323
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Downslanted palpebral fissures ORPHA:2256
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, I... ORPHA:752
Maternal Uniparental Disomy Of Chromosome 1
Short stature, Cataract, Growth delay, Failure to thrive ORPHA:251009
Stiff Skin Syndrome
Short stature, Cataract OMIM:184900
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Unilateral renal hypoplasia, Vesicoureteral reflux, Elevated circulating ... OMIM:619955
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Renal cyst, Short stature, Gro... OMIM:615583
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Retinal thinning, Asteroid hyalosis, Osteoarthritis, Short stature, Growth delay ORPHA:166011
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Atrioventricular block, Central nervous system d... ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Encephalocele, Retinal detachment, Remnants of the hyaloid vascular sys... OMIM:614643
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus ORPHA:2578
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Intrauterine growth retardation, Failure to thrive OMIM:618958
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor, Bronchiec... OMIM:615434
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria, Optic nerve hy... ORPHA:45358
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Epicanthus, Renal hypoplasia OMIM:620439
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Kenny-Caffey Syndrome, Type 2
Severe short stature, Papilledema, Developmental cataract, Microphthalmia, Retinal calcification,... OMIM:127000
Mucopolysaccharidosis Type 1
Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Retinopathy, Sinusitis, Cor... ORPHA:579
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Short statu... OMIM:231550
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio... OMIM:617547
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis, Developmental cataract, Proportionate short stature OMIM:617044
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Dacryocystitis, Vesicoureteral reflux, Eczematoid dermatitis ORPHA:464288
Fragile X Syndrome
Macroorchidism ORPHA:908
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Failure to thrive, Microphthalmia, Short stature, Persistent pupillary mem... OMIM:257850
Campomelia, Cumming Type
Short stature, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Cataract, Microspherophakia, Ectopia lentis, Umbilical hernia, Congestive ... OMIM:608328
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Juvenile cat... ORPHA:436245
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Astigmatism, Decreased body weight, Microphthalmia, Short statur... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract OMIM:615350
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Optic neurop... OMIM:105120
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Decreased... OMIM:162400
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia OMIM:617926
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Telecanthus, Polycystic kidney dysplasia OMIM:263210
Ramon Syndrome
Telangiectasia of the skin, Abnormal anterior chamber morphology, Abnormality of retinal pigmenta... ORPHA:3019
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Microcornea, Recurrent pneumonia, Congestive heart fail... OMIM:225400
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Wilson Disease
Failure to thrive, Kayser-Fleischer ring, Hepatitis, Increased body weight, Weight loss, Arthriti... ORPHA:905
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Cataract, Developmental cataract ORPHA:436174
Sengers Syndrome
Cataract, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Developmental cataract, C... OMIM:212350
Vici Syndrome
Cataract, Optic atrophy, Cerebral cortical atrophy, Abnormal macular morphology, Cardiomyopathy, ... ORPHA:1493
Gm1 Gangliosidosis
Optic atrophy, Failure to thrive, Cardiomyopathy, Cherry red spot of the macula, Congestive heart... ORPHA:354
Fucosidosis
Failure to thrive, Corneal opacity ORPHA:349
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Intrauterine growth retardation, Renal hypoplasia, Upslanted palpebral fissure ORPHA:75389
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Cach Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Intraut... ORPHA:135
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis, Downslanted palpebral fissures OMIM:212780
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Noonan Syndrome 9
Short stature, Prominent corneal nerve fibers, Pulmonic stenosis OMIM:616559
Mccune-Albright Syndrome
Precocious puberty, Renal phosphate wasting, Irregular menstruation, Hepatitis, Increased circula... ORPHA:562
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... OMIM:613810
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Osteomyelitis, Abnormal sensory nerve conduction velocity, Axon... ORPHA:88628
Proximal Myotonic Myopathy
Cataract ORPHA:606
Pelvis-Shoulder Dysplasia
Microcornea, Hydranencephaly, Bilateral microphthalmos, Retinal coloboma, Mesomelic/rhizomelic li... ORPHA:2839
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Hypocystinemia, Intrauterine growth retardation, Decreased ser... OMIM:617744
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Congenital Tufting Enteropathy
Cataract, Failure to thrive, Optic disc coloboma, Punctate keratitis, Weight loss, Arthritis, Cor... ORPHA:92050
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Intrauterine growth retardation, Disproportionate short-limb short stature ORPHA:2772
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Meckel Syndrome 12
Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation, Antecubital pterygiu... OMIM:616258
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Neonatal death OMIM:615524
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri... OMIM:617914
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Telecanthus, N... ORPHA:314588
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Interstitial pneumonitis, Enterocolitis, Ulcerative colitis, Corneal erosion OMIM:614878
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Pseudopseudohypoparathyroidism
Short stature, Cataract, Obesity OMIM:612463
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Opacification of the corneal stroma, Telangiectasia of the oral mucos... ORPHA:79280
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... ORPHA:26791
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Hematochezia, Giant cell hepatitis ORPHA:79095
Marden-Walker Syndrome
Renal hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Epicanthus, Ptos... OMIM:248700
Hemochromatosis, Type 4
Cataract, Arrhythmia, Osteoarthritis, Cardiomyopathy OMIM:606069
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Phace Association
Optic atrophy, Increased retinal vascularity, Developmental cataract, Microphthalmia, Horner synd... OMIM:606519
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Lacrim... OMIM:113650
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... ORPHA:137596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Optic atrophy, Dilated cardiomyopathy, Encephalocele, Retinal detachment, Microphthalmi... OMIM:253800
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Nevus Comedonicus Syndrome
Spina bifida occulta, Cataract, Spina bifida ORPHA:64754
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morpholog... ORPHA:2715
Wolfram Syndrome 1
Optic atrophy, Cataract, Pigmentary retinopathy, Cardiomyopathy, Cerebral atrophy, Growth delay OMIM:222300
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Failure to thrive, Congestive heart failure, Intrauterine grow... ORPHA:1830
Retinitis Pigmentosa 37
Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Pigmentary retino... OMIM:611131
Joubert Syndrome 20
Renal cyst OMIM:614970
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Thick eyebrow, Short stature... ORPHA:94063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Encephalocele, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Renal hypoplasia, Growth delay OMIM:617784
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Short stature, Spina bifida occulta, Growth delay ORPHA:177
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Sturge-Weber Syndrome
Optic atrophy, Cerebral cortical atrophy, Pulmonary embolism, Abnormal choroid morphology, Hetero... ORPHA:3205
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Lowry-Maclean Syndrome
Megalocornea, Intrauterine growth retardation, Corneal opacity, Growth delay, Developmental glaucoma ORPHA:2409
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopathy, Ventricular tachycardia, ... OMIM:300952
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Cataract, Cerebral cortical atrophy ORPHA:1387
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Cataract OMIM:302950
Arterial Tortuosity Syndrome
Aortic valve stenosis, Keratoconus, Aortic regurgitation, Umbilical hernia, Ischemic stroke, Asti... OMIM:208050
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Hurler Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Retinopathy, Hypertension, Angina pectoris, C... ORPHA:93473
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Skin rash, Conjunctival hypere... ORPHA:863
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Macroorchidism, Hypospadias, Polymicrogyria OMIM:618874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal s... OMIM:615287
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Cataract OMIM:608810
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Abnormal optic nerve morphology, Failure to thrive, Cerebellar a... ORPHA:99949
Cockayne Syndrome
Lentiglobus, Postnatal growth retardation, Cachexia, Microphthalmia, Optic disc pallor, Miosis, C... ORPHA:191
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Band keratopathy, Delayed puberty, Supraventricular arrhythmia, Short stature, Small fo... ORPHA:2959
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Cerebellar atrophy, Cerebral atrophy OMIM:614409
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Recurrent pneumonia, Cerebral cortical atrophy ORPHA:3137
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Mucopolysaccharidosis Type 7
Umbilical hernia, Hepatitis, Corneal opacity ORPHA:584
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Cerebral cortical atrophy, Cerebral atrophy, Retinopathy, Pulmonary arteri... ORPHA:2396
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... OMIM:273250
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Polycystic kidney dysplasia OMIM:608776
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Alg8-Cdg
Cataract, Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Intrauterine growth retard... ORPHA:79325
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Congenital Disorder Of Glycosylation, Type Ii
Short stature, Cataract, Iris coloboma, Decreased body weight OMIM:607906
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ... ORPHA:90790
Microphthalmia, Syndromic 9
Severe short stature, Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Neonat... OMIM:601186
De Barsy Syndrome
Cataract, Abnormal fundus fluorescein angiography, Failure to thrive, Umbilical hernia, Postnatal... ORPHA:2962
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Severe postnatal growth retardation, Erythroderma, Microphthalmia, Short s... ORPHA:35173
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Slow pupillary light response, To... ORPHA:90658
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Perrault Syndrome 4
Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating gonad... OMIM:615300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Eczematoid dermatitis, Umbilical hernia, Recurrent skin infections, Corneal neovascula... OMIM:308205
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Axial Spondylometaphyseal Dysplasia
Cataract, Optic atrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, Disp... ORPHA:168549
Neurocardiofaciodigital Syndrome
Cataract, Failure to thrive, Sclerocornea, Optic disc pallor, Short stature, Small for gestationa... OMIM:619869
Fabry Disease
Cataract, Optic atrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:324
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Developmental cataract, Microphthalmia ORPHA:335
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Corneal opacity OMIM:163200
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Rhizomelia, Disproportionate short stature, Failure to thrive, Zonular cataract, Short ... OMIM:222765
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Optic atrophy, Cerebellar atrophy, Cardiomyopathy, Opto-chiasmatic atrophy OMIM:620089
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Corneal opacity, Failure to thrive, Microphthalmia ORPHA:364577
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Down Syndrome
Keratoconus, Cataract, Umbilical hernia, Obesity, Aganglionic megacolon, Delayed puberty, Short s... ORPHA:870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Abnorm... ORPHA:2869
Neuraminidase Deficiency
Short stature, Cataract, Cardiomyopathy, Cherry red spot of the macula OMIM:256550
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Monilethrix
Cataract ORPHA:573
Cohen Syndrome
Optic atrophy, Failure to thrive in infancy, Intrauterine growth retardation, Obesity, Abnormalit... ORPHA:193
Renpenning Syndrome
Severe short stature, Cataract, Growth delay, Cachexia, Iris coloboma ORPHA:3242
Fanconi Anemia
Cataract, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Aplasia... ORPHA:84
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Upslanted palpebral fissure, Ptosis, Absence of renal corticomedullary differen... OMIM:619758
Atelis Syndrome 1
Cataract, Bronchiectasis, Glue ear, Eczematoid dermatitis OMIM:620184
Incontinentia Pigmenti
Cataract, Optic atrophy, Keratitis, Retinal hemorrhage, Hypoplasia of the fovea, Retinal vascular... OMIM:308300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Epicanthus OMIM:618494
Trisomy 18
Cataract, Microcornea, Growth delay, Intrauterine growth retardation, Abnormality of retinal pigm... ORPHA:3380
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Failure to thrive, Intrau... ORPHA:464311
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Death in infancy, Renal cyst, Increased circulating very long-chain ... OMIM:614862
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Intra... ORPHA:275555
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Tri... ORPHA:2556
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Cerebral cortical atrophy, Corpus callosum atrophy, Short stature, Growth delay OMIM:616586
Cutis Marmorata Telangiectatica Congenita
Intrauterine growth retardation, Leukocoria, Telangiectasia of the skin, Retinal detachment ORPHA:1556
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, C... OMIM:269200
Congenital Toxoplasmosis
Failure to thrive in infancy, Intrauterine growth retardation, Abnormality of retinal pigmentatio... ORPHA:858
Frontorhiny
Cranium bifidum occultum, Cataract, Encephalocele, Basal encephalocele, Microphthalmia, Iris colo... ORPHA:391474
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Ocular albinism, Microphthalmia ORPHA:1352
Retinoblastoma
Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retin... ORPHA:790
Acrofrontofacionasal Dysostosis 1
Short stature, Optic atrophy, Iris atrophy, Microphthalmia OMIM:201180
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract ORPHA:369840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract OMIM:615351
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cerebral cortical atrophy, Recurrent pneumonia, Myelopathy, Failure to thri... OMIM:252500
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Optic atrophy, Cerebellar atrophy, Corpus callosum atrophy, Atrophy/Degeneration affect... ORPHA:98673
Arterial Tortuosity Syndrome
Keratoconus, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esoph... ORPHA:3342
Hereditary Acrokeratotic Poikiloderma
Eczematoid dermatitis, Pustule, Keratoconjunctivitis, Telangiectasia of the skin, Short stature, ... ORPHA:2907
Behcet Syndrome
Hypopyon, Chorioretinitis, Iridocyclitis, Raynaud phenomenon, Arthritis, Erythema nodosum, Epidid... OMIM:109650
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Telangiectasia, Keratoconjunctivitis sicca, Erythroderma, Microphthalmia, ... OMIM:601675
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Peters anomaly, Microphthalmia OMIM:618652
Carpenter Syndrome
Obesity, Abnormal cornea morphology, Umbilical hernia ORPHA:65759
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Short stature, Astigmatism, Umbilical hernia ORPHA:2095
Usher Syndrome Type 2
Iris hypopigmentation, Cataract, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:231178
Classic Phenylketonuria
Cataract, Growth delay, Eczematoid dermatitis ORPHA:79254
Monosomy 13Q14
Cataract, Intrauterine growth retardation, Retinoblastoma, Microphthalmia, Short stature, Iris co... ORPHA:1587
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Dilated cardiomyopathy, Ischemic stroke, Delayed puberty, Cerebral hemorrhage, Short st... ORPHA:280679
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Jacobsen Syndrome
Nasolacrimal duct obstruction, Microcornea, Optic atrophy, Failure to thrive, Chorioretinal colob... OMIM:147791
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Optic atrophy, Failure to thrive, Intrauterine growth retardation, Retinal detachment, ... OMIM:619833
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atr... OMIM:208540
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Upslanted palpebral fissure OMIM:613735
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Ex... OMIM:259770
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Corneal stromal edema, Hypermyelinated retinal nerve fibers, Corneal opacity, ... OMIM:601812
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Folliculitis, Keratitis, Conjunctivitis, Blepharitis OMIM:612843
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Nasolacrimal duct obstruction, Umbilical he... OMIM:619539
Galactokinase Deficiency
Cataract, Nuclear cataract, Small for gestational age, Failure to thrive ORPHA:79237
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections, Intrauterine gro... OMIM:609029
Wolf-Hirschhorn Syndrome
Growth delay, Failure to thrive, Ectopia pupillae, Intrauterine growth retardation, Rieger anomal... OMIM:194190
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid... ORPHA:432
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Cadds
Cataract, Intrauterine growth retardation, Cholangitis, Cerebellar atrophy ORPHA:369942
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Mucopolysaccharidosis Type 4
Short stature, Corneal opacity ORPHA:582
Malignant Atrophic Papulosis
Cataract, Gastrointestinal hemorrhage, Arteritis, Abnormal optic nerve morphology, Ischemic strok... ORPHA:679
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Rabin-Pappas Syndrome
Cataract, Failure to thrive in infancy, Obesity, Retinal detachment, Retinal telangiectasia, Opti... OMIM:620155
Marinesco-Sjögren Syndrome
Severe short stature, Cataract, Optic atrophy ORPHA:559
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Vacterl With Hydrocephalus
Microcornea, Abnormal optic nerve morphology, Intrauterine growth retardation, Anophthalmia, Spin... ORPHA:3412
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys... OMIM:617641
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Alport Syndrome 2, Autosomal Recessive
Cataract, Nephritis, Anterior lenticonus, Hypertension, Corneal erosion OMIM:203780
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Failure to thrive, Axenfeld anom... OMIM:118450
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Postna... ORPHA:959
Dysbetalipoproteinemia
Corneal arcus, Obesity, Gout, Angina pectoris, Acute pancreatitis ORPHA:412
Stickler Syndrome, Type I
Cataract, Vitreoretinopathy, Membranous vitreous appearance, Retinal detachment, Retinal hole, Ar... OMIM:108300
Kniest Dysplasia
Cataract, Rhizomelia, Umbilical hernia, Recurrent otitis media, Disproportionate short-trunk shor... OMIM:156550
3Mc Syndrome 3
Short stature, Growth delay, Corneal opacity OMIM:248340
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy, Obesity, Rod-cone dystrophy, Optic disc pallor OMIM:616562
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Sclero... OMIM:206900
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Short Stature-Micrognathia Syndrome
Cataract, Rhizomelia, Cerebellar atrophy, Failure to thrive, Intrauterine growth retardation, Ast... OMIM:617164
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Cerebellar atrophy, Cerebral atrophy OMIM:619286
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract OMIM:614872
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Short stature, Ocular albinism ORPHA:2720
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Mi... OMIM:616449
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Cardiofaciocutaneous Syndrome 4
Short stature, Cataract, Pulmonic stenosis, Optic nerve hypoplasia OMIM:615280
Dentici-Novelli Neurodevelopmental Syndrome
Cataract OMIM:619877
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Metatropic Dysplasia
Severe short stature, Cataract ORPHA:2635
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Myotonic Dystrophy 1
Cataract, Atrial flutter, Cerebral atrophy, Facial diplegia, First degree atrioventricular block,... OMIM:160900
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Werner Syndrome
Short stature, Cataract, Retinal degeneration OMIM:277700
Usher Syndrome
Cataract, Cerebral cortical atrophy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... ORPHA:886
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Familial Isolated Hypoparathyroidism
Short stature, Cataract, Arrhythmia ORPHA:2238
Proboscis Lateralis
Cataract, Microcornea, Nasolacrimal duct obstruction, Chorioretinal coloboma, Optic disc coloboma... ORPHA:141099
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Muckle-Wells Syndrome
Optic atrophy, Vasculitis, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Delayed pubert... ORPHA:575
Multicentric Osteolysis, Nodulosis, And Arthropathy
Short stature, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Delayed puberty, Primary amenorrh... ORPHA:79239
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Hooded eyelid, Intrauterine growth retardation, Upsl... ORPHA:96170
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinary tract infections, Intestin... ORPHA:2970
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Ifap Syndrome 2
Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca OMIM:619016
Phelan-Mcdermid Syndrome
Long eyelashes, Thick eyebrow, Vesicoureteral reflux, Epicanthus, Ptosis, Abnormality of the kidn... OMIM:606232
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Optic atrophy, Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy ORPHA:543470
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Cataract, Obesity, Heart murmur OMIM:615418
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age OMIM:607371
Mevalonic Aciduria
Cataract, Nuclear cataract, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Failure to t... OMIM:610377
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Papilled... ORPHA:93325
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Joubert Syndrome 35
Renal fibrosis, Highly arched eyebrow, Multicystic kidney dysplasia, Recurrent urinary tract infe... OMIM:618161
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Hyperprolinemia, Hyperalaninemia, Lacticaciduria... OMIM:619003
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Amyotrophic lateral sclerosis, Cardiomyopathy, Congestive heart failure, Cranial nerve ... ORPHA:52430
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Keratitis, Corneal dystrophy, Conjunctivitis, Blepharitis OMIM:308800
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Optic atrophy, Decreased distal sensory nerve action potential, Buphthalmos, Developmen... ORPHA:99956
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Cataract, Optic atrophy, Abnormal optic nerve morphology, Erysipelas, Anoph... ORPHA:2526
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Proximal tubulopathy, Diarrhea, Vomiting, Villous atrophy, Death in c... OMIM:602579
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Axial Osteomalacia
Renal cyst OMIM:109130
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Steinfeld Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia OMIM:184705
Ruijs-Aalfs Syndrome
Short stature, Cataract, Posterior subcapsular cataract, Decreased body weight OMIM:616200
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Facial Spasm
Anisocoria OMIM:134300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Pigmentary retinopathy, Chronic mucocutaneous candidiasis, Keratoco... OMIM:240300
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Post... OMIM:620366
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Failure to thrive, Eczema... ORPHA:464306
1Q21.1 Microdeletion Syndrome
Cataract, Failure to thrive, Intrauterine growth retardation, Microphthalmia, Short stature, Iris... ORPHA:250989
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Cerebral atrophy ORPHA:369847
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Mucopolysaccharidosis, Type Vii
Severe short stature, Cardiomyopathy, Umbilical hernia, Neurodegeneration, Postnatal growth retar... OMIM:253220
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Cardiomyopathy, Umbilical hernia, Retinopathy, Abnormality of retinal pigmentation... ORPHA:217085
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Occipital encephalocele, Vitreoretinopathy, Abnor... ORPHA:1571
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux ORPHA:2470
Skin Creases, Congenital Symmetric Circumferential, 1
Cerebellar vermis atrophy, Microcornea, Microphthalmia OMIM:156610
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Harlequin Ichthyosis
Cataract, Sudden cardiac death, Erythroderma ORPHA:457
Stuve-Wiedemann Syndrome 1
Intrauterine growth retardation, Pulmonary arterial hypertension, Abnormal autonomic nervous syst... OMIM:601559
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Disproportionate short-limb short stature, Abnormal ... OMIM:616541
Monosomy 9Q22.3
Cataract, Umbilical hernia, Large for gestational age, Retinopathy, Microphthalmia ORPHA:77301
Harrod Syndrome
Cataract, Intrauterine growth retardation, Failure to thrive, Cerebral cortical atrophy ORPHA:2115
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Intrauterine growth retardation, Renal cyst, Epicanthus, Pancreatic cysts, Polycystic kidney dysp... OMIM:610199
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Failure to thrive, Intrauterine growth retardation, Cachexia, Growth delay ORPHA:217346
Full Schwannomatosis
Cataract ORPHA:93921
Mucopolysaccharidosis Type 2
Optic atrophy, Hip osteoarthritis, Cardiomyopathy, Umbilical hernia, Decreased nerve conduction v... ORPHA:580
Clouston Syndrome
Conjunctivitis, Cataract, Short stature, Blepharitis OMIM:129500
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Epicanthus, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Aganglionic megacolon, Microphthalmia, Spina b... OMIM:607323
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Subdural hemorrhage, Cardiomyopathy, Brain atrophy, Mild post... ORPHA:90324
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Cardiomyopathy, Umbilical hernia, Retinopathy, Abnormality of retinal pigmentation... ORPHA:217093
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Intrauterine growth retardation, Microphthalm... OMIM:263650
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Atelis Syndrome 2
Dacryocystocele, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cata... OMIM:620185
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Pigmentary retinopathy, Failure to thrive, Postnatal growth retardation,... ORPHA:90321
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis OMIM:180200
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia, Developmental cataract, Conjunctivitis, Uveitis ORPHA:90322
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Postnatal growth retardation, Intrauterine growth retardation, Abnor... ORPHA:397590
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Branchio-Oculo-Facial Syndrome
Cataract, Microcornea, Intrauterine growth retardation, Nasolacrimal duct obstruction, Short stat... ORPHA:1297
Arima Syndrome
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ... OMIM:243910
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Intrauterine growth retardation, ... OMIM:608104
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cerebral atrophy, Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Cerebral cortical atrophy, Pneumonia, Cerebellar atrophy, Umbilic... ORPHA:309282
H Syndrome
Abnormal cardiovascular system physiology, Facial telangiectasia, Psoriasiform dermatitis, Chroni... ORPHA:168569
Sponastrime Dysplasia
Cataract, Rhizomelia, Recurrent pneumonia, Disproportionate short-limb short stature, Intrauterin... ORPHA:93357
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Renal Tubular Acidosis, Proximal
Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu... OMIM:179830
Frontofacionasal Dysplasia
Cranium bifidum occultum, Cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:229400
Triploidy
Cataract, Intrauterine growth retardation, Meningocele, Iris coloboma, Aplasia/Hypoplasia affecti... ORPHA:3376
Hallermann-Streiff Syndrome
Cataract, Recurrent pneumonia, Chorioretinal coloboma, Optic disc coloboma, Proportionate short s... OMIM:234100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Adams-Oliver Syndrome
Cataract, Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Encephalocele, Pul... ORPHA:974
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased testicular size, Hypogonadotropic hypogonadism, Anterior ... OMIM:616113
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Renal hypoplasia, Trichiasis, Intrauterine growth retardation, Vesicourete... OMIM:618460
Alg3-Cdg
Cataract, Cardiomyopathy, Subcortical cerebral atrophy, Brain atrophy, Neural tube defect ORPHA:79321
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Failure to thrive, Postnatal growth retardation, Erythroderma, Microphthalmia OMIM:302960
Marshall Syndrome
Cataract, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachme... ORPHA:560
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Corneal dystrophy, Optic nerve hypoplasia ORPHA:495875
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Sitosterolemia 1
Corneal arcus, Arthritis OMIM:210250
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Anorectal ... ORPHA:1834
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Galactosemia I
Cataract, Failure to thrive OMIM:230400
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Cataract ORPHA:79107
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Cerebrotendinous Xanthomatosis
Cataract, Cerebellar atrophy, Cerebral atrophy, Angina pectoris, Delayed somatosensory central co... OMIM:213700
Caroli Disease
Pruritus, Conjunctival icterus, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia ORPHA:53035
Fryns Syndrome
Aganglionic megacolon, Cerebral cortical atrophy, Corneal opacity, Microphthalmia ORPHA:2059
3Q29 Microdeletion Syndrome
Cataract, Pulmonary arterial hypertension, Failure to thrive, Microphthalmia ORPHA:65286
Mosaic Trisomy 8
Short stature, Corneal opacity ORPHA:96061
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Spondylometaphyseal Dysplasia, Axial
Short stature, Rhizomelia, Disproportionate short-trunk short stature, Reduced sperm motility OMIM:602271
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Jaberi-Elahi Syndrome
Cerebellar vermis atrophy, Cataract, Optic atrophy, Failure to thrive OMIM:617988
Moebius Syndrome
Facial palsy, Blepharitis, Corneal opacity ORPHA:570
Mhc Class I Deficiency 1
Bronchiectasis, Ectopia lentis, Chronic otitis media, Chronic sinusitis OMIM:604571
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Growth delay, Failure to thrive, Corneal opacity ORPHA:79396
Bardet-Biedl Syndrome 1
Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Obesity, Ast... OMIM:209900
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Bilateral vestibular schwannoma, Epiretinal membrane, V... OMIM:101000
Mosaic Trisomy 9
Intrauterine growth retardation, Corneal opacity, Spina bifida, Microphthalmia ORPHA:99776
Martsolf Syndrome 1
Cataract, Cardiomyopathy, Congestive heart failure, Developmental cataract, Microphthalmia, Short... OMIM:212720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Growth delay, Distal urethral duplication, Intrauterine growth ret... OMIM:146510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cerebral cortical atrophy, Cerebellar atrophy, Intrauterine growth retardation, Brain a... OMIM:620327
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Recurrent skin infections, Corneal ulceration OMIM:616488
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Cat Eye Syndrome
Chorioretinal coloboma, Umbilical hernia, Microphthalmia, Short stature, Iris coloboma, Pulmonic ... OMIM:115470
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Cerebellar atrophy, Failure to thrive ORPHA:544503
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... OMIM:608710
Autosomal Recessive Spastic Paraplegia Type 5A
Cataract, Atrophy of the spinal cord ORPHA:100986
Van Maldergem Syndrome 1
Renal hypoplasia, Short palpebral fissure, Growth delay, Epicanthus, Ptosis, Blepharophimosis, Hy... OMIM:601390
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cataract, Truncal obesity ORPHA:127
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pneumonia, Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid re... OMIM:253200
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormally large globe, Abnormal lens morphology, Abnormal optic disc morphology, ... ORPHA:363417
Lymphedema-Hypoparathyroidism Syndrome
Short stature, Cataract OMIM:247410
Chime Syndrome
Cerebral cortical atrophy, Retinal coloboma, Corneal opacity ORPHA:3474
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Cataract, Corneal scarring, Growth delay OMIM:226600
Autoimmune Hypoparathyroidism
Cataract, Chronic mucocutaneous candidiasis, Prolonged QT interval, Ventricular arrhythmia, Conju... ORPHA:36913
Van Maldergem Syndrome 2
Renal hypoplasia, Short palpebral fissure, Growth delay, Epicanthus, Ptosis, Blepharophimosis, Na... OMIM:615546
Marsili Syndrome
Corneal scarring OMIM:147430
Hajdu-Cheney Syndrome
Downslanted palpebral fissures, Long eyelashes, Telecanthus, Thick eyebrow, Epicanthus, Renal cys... OMIM:102500
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Intrauterine growth retardation, Microphthalmia, Corneal opacity,... ORPHA:1052
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormal optic nerve mor... ORPHA:79430
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Arrhythmia, Microphthalmia, Conjunctivitis, Corneal ulceration OMIM:153400
Congenital Syphilis
Pneumonia, Optic atrophy, Cataract, Keratitis, Intrauterine growth retardation, Large placenta, C... ORPHA:499009
Cowden Syndrome 5
Cataract, Angioid streaks of the fundus, Thyroiditis OMIM:615108
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph... OMIM:617913
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular block ORPHA:589821
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Short palpebral fissure, Sparse eyebrow, Downslanted... OMIM:620654
Williams Syndrome
Megalocornea, Mitral regurgitation, Posterior embryotoxon, Flat cornea, Chronic otitis media, Atr... ORPHA:904
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Sparse eyebrow, Rhizomelia, Renal cyst, Stillbirth OMIM:616300
Autosomal Recessive Cutis Laxa Type 2A
Postnatal growth retardation, Intrauterine growth retardation, Abnormal cornea morphology ORPHA:357058
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Upslanted palp... OMIM:154230
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticome... OMIM:122470
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Renal hypoplasia, Lacrimal duct aplasia, Microphallus, Vesicoureteral refl... OMIM:618454
Mycophenolate Mofetil Embryopathy
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:268249
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Corneal opacity, Failure to thrive, Microphthalmia OMIM:608670
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Per... OMIM:613843
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neuronal loss in central nervous s... ORPHA:314404
Xfe Progeroid Syndrome
Severe short stature, Optic atrophy, Failure to thrive, Corneal scarring, Attenuation of retinal ... OMIM:610965
Cronkhite-Canada Syndrome
Cataract, Cachexia ORPHA:2930
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Short stature, Enlarged kidney OMIM:613091
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia OMIM:167730
Fryns Syndrome
Aganglionic megacolon, Large for gestational age, Opacification of the corneal stroma, Microphtha... OMIM:229850
Marshall Syndrome
Cataract, Vitreoretinopathy, Recurrent otitis media, Knee osteoarthritis, Retinal detachment, Sho... OMIM:154780
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Intrauterine growth retardation, Neonatal death, Epicanthus, Cystic renal dyspl... OMIM:269860
Isolated Thyroid-Stimulating Hormone Deficiency
Growth delay, Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Ma... ORPHA:90674
Spastic Paraplegia 9A, Autosomal Dominant
Short stature, Cataract, Corpus callosum atrophy, Abnormal upper motor neuron morphology OMIM:601162
Aicardi Syndrome
Cataract, Optic atrophy, Recurrent pneumonia, Optic disc coloboma, Postnatal growth retardation, ... OMIM:304050
Congenital Myopathy 17
Renal hypoplasia, Downslanted palpebral fissures, Telecanthus, Ureteropelvic junction obstruction... OMIM:618975
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Cataract, Optic atrophy, Cerebral atrophy OMIM:220500
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Optic disc pallor, Pulmonary arterial hypertension, Microphthalmia OMIM:300887
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Downslanted palpebral fissures, Abnormality of the ureter... OMIM:200980
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Focal Dermal Hypoplasia
Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Umbilical hernia, Myelomeningocele, Anirid... OMIM:305600
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Intrauterine growth retardation, Vesicoureteral reflux, Short sta... OMIM:603467
Cri-Du-Chat Syndrome
Optic atrophy, Cataract, Growth delay, Small for gestational age OMIM:123450
Linear Nevus Sebaceus Syndrome
Growth delay, Iris coloboma, Microphthalmia ORPHA:2612
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Microcornea, Macular degeneration, Eczemat... ORPHA:33364
Cowden Syndrome 6
Cataract, Angioid streaks of the fundus, Thyroiditis OMIM:615109
Neurofibromatosis Type 1
Cataract, Chorioretinal coloboma, Abnormality of retinal pigmentation, Heterochromia iridis, Lisc... ORPHA:636
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Sparse eyebrow, Downslanted palpebral fissures, Intrauterine growth... ORPHA:73246
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Lymphedema-Distichiasis Syndrome
Cataract, Arrhythmia, Tubulointerstitial nephritis, Conjunctivitis, Recurrent skin infections, Co... ORPHA:33001
Transketolase Deficiency
Cataract, Proportionate short stature, Seborrheic dermatitis, Conjunctivitis, Uveitis ORPHA:488618
Ogden Syndrome
Palpebral thickening, Sparse eyebrow, Growth delay, Eczematoid dermatitis, Downslanted palpebral ... OMIM:300855
Cerebrofacioarticular Syndrome
Renal hypoplasia, Epicanthus, Blepharophimosis, Short stature, Hypospadias ORPHA:314679
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth OMIM:615415
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Gastrointestinal hemorrhage, Ectopia lentis, Pulmonary embolism, Cerebra... ORPHA:394
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension OMIM:615510
Caroli Syndrome
Conjunctival icterus, Hyperbilirubinemia, Abnormality of the kidney, Polycystic kidney dysplasia,... ORPHA:480520
Andersen-Tawil Syndrome
Short palpebral fissure, Renal hypoplasia, Renal tubular dysfunction, Short stature, Growth delay ORPHA:37553
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
Ciliary Dyskinesia, Primary, 1
Pneumonia, Abnormal cornea morphology, Chronic sinusitis, Chronic rhinitis, Chronic otitis media,... OMIM:244400
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Failure to thrive, Mild postnatal growth retardation, Short stature, ... ORPHA:47159
Pseudohypoparathyroidism, Type Ic
Short stature, Cataract, Obesity OMIM:612462
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Cataract, Occipital encephalocele, Disproportionate short-limb short statur... OMIM:224410
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Tangier Disease
Facial diplegia, Corneal opacity ORPHA:31150
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Periodontitis, Failure to thrive, Umbilical hernia, Abnormal pupil morphol... ORPHA:534
Chromosome 13Q14 Deletion Syndrome
Iris coloboma, Chorioretinal coloboma, Umbilical hernia, Retinoblastoma, Microphthalmia, Growth d... OMIM:613884
Silver-Russell Syndrome 3
Postnatal growth retardation, Ambiguous genitalia, Penoscrotal hypospadias, Short stature, Unilat... OMIM:616489
Kinsship Syndrome
Short palpebral fissure, Renal hypoplasia, Horseshoe kidney, Death in infancy, Long palpebral fis... OMIM:619297
Distal Deletion 12Q
Growth delay, Downslanted palpebral fissures, Telecanthus, Vesicoureteral reflux, Hydronephrosis,... ORPHA:96149
Dahlberg-Borer-Newcomer Syndrome
Short stature, Cataract ORPHA:1563
Agel Amyloidosis
Cataract, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Kerat... ORPHA:85448
Alport Syndrome
Anterior lenticonus, Posterior subcapsular cataract, Macular degeneration, Abnormal corneal endot... ORPHA:63
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased testicular size, Hypogonadotropic hypogonadism, Anterior ... ORPHA:453533
Codas Syndrome
Short stature, Cataract ORPHA:1458
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Orofaciodigital Syndrome I
Downslanted palpebral fissures, Telecanthus, Hepatic cysts, Ovarian cyst, Proteinuria, Epicanthus... OMIM:311200
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Elevated circulating creatinine concentra... OMIM:301110
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Disproportionate short stature, Sparse eyebrow, Intrauterine growth retardation... OMIM:210710
Pseudohypoparathyroidism, Type Ia
Short stature, Cataract, Obesity OMIM:103580
Blau Syndrome
Posterior uveitis, Cataract, Keratitis, Abnormal optic nerve morphology, Large vessel vasculitis,... ORPHA:90340
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Acute Radiation Syndrome
Cataract, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis, Telangiect... ORPHA:454831
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss... OMIM:617321
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Decreased body weight, Retinal detachment, Short stature OMIM:605822
Congenital Disorder Of Glycosylation, Type Ij
Cataract OMIM:608093
Werner Syndrome
Cataract, Congestive heart failure, Slender build, Abnormality of retinal pigmentation, Telangiec... ORPHA:902
Meckel Syndrome, Type 10
Renal cyst, Epicanthus, Ptosis, Narrow palpebral fissure, Micropenis, Hypospadias OMIM:614175
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Umbilical hernia, Anophthalmia, Decreased body weight, Phthis... OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Developmenta... ORPHA:464738
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Obesity, Prolonged QT interval, Short stature, Conjunctivitis, Hypert... ORPHA:79443
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma OMIM:612918
Behçet Disease
Mitral regurgitation, Weight loss, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal... ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Congestive heart failure, Recurrent otitis media, Parotitis, Punctate opacific... OMIM:256040
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Dilated cardiomyopathy, Postnatal growth retardation, Cerebral hemorrhage, Short statur... OMIM:300845
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Episcleritis, Pulmonary arterial hypertension, Short stature, Corneal arcu... OMIM:602782
Wolf-Hirschhorn Syndrome
Optic atrophy, Failure to thrive, Megalocornea, Intrauterine growth retardation, Retinopathy, Scl... ORPHA:280
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Eczematoid dermatitis, Pulmonic stenosis, Corneal opacity ORPHA:488632
Oculodentodigital Dysplasia
Cataract, Microcornea, Arrhythmia, Microphthalmia, Uveitis OMIM:164200
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
3-Methylglutaconic Aciduria, Type Viib
Cataract, Rhizomelia, Recurrent pneumonia, Cerebellar atrophy, Cerebral atrophy, Congestive heart... OMIM:616271
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Ocular anterior segment dysgenesis, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Telangiectasia, Zonular cataract, Microphthalmia, Short stature, Small for... OMIM:268400
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Superficial Siderosis
Cerebellar atrophy, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve... ORPHA:247245
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Peters Plus Syndrome
Cataract, Microcornea, Rhizomelia, Peters anomaly, Disproportionate short-limb short stature, Opt... ORPHA:709
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Prominent corneal nerve fibers, Mitral stenosi... OMIM:616564
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, Cerebral atrophy OMIM:618797
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Optic disc coloboma, Microphthalmia, Short stature, Iris coloboma ORPHA:251014
Curry-Jones Syndrome
Iris coloboma, Occipital meningocele, Lipomyelomeningocele, Microphthalmia OMIM:601707
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Corneal... ORPHA:536471
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Downslanted palpebral fissures, Horseshoe kidney, Ve... DECIPHER:81
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Cataract, Prolonged QT interval, Short stature ORPHA:94089
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Spontaneous, recurrent epistaxis, Cachexia, Papilledema, Delayed puberty,... ORPHA:2072
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Cerebral cortical atrophy, Keratitis, Failure to thrive, Eczematoid dermati... ORPHA:2273
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Anencephaly, Spina bifida, Corneal opacity... ORPHA:2369
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Intrauterine growth retardation, Upslanted palpebral... OMIM:614083
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Corneal opac... ORPHA:2908
Omodysplasia 2
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor... OMIM:164745
Syndromic Diarrhea
Renal hypoplasia, Intrauterine growth retardation, Short stature, Abnormality of iron homeostasis... ORPHA:84064
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus, Primary amenorrhea OMIM:191830
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Cachexia, Hematochezia OMIM:175500
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Primary amenorrhea, Hypoplasia of ... ORPHA:247768
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Ureteropelvic junction obstruction, Vesico... ORPHA:2438
Mend Syndrome
Aortic valve stenosis, Cataract, Abnormal auditory evoked potentials, Failure to thrive, Micropht... ORPHA:401973
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Hypertensive retinopathy, Episodic hyp... OMIM:171300
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth r... OMIM:614052
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Lower eyelid coloboma, Renal insuffi... OMIM:181270
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Vici Syndrome
Cataract, Dilated cardiomyopathy, Hypopigmentation of the fundus, Failure to thrive, Ocular albin... OMIM:242840
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Ptosis, Blepharophimosis, Short stature ORPHA:2031
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerebellar atrophy, Cerulean cataract, A... ORPHA:67036
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Hashimoto thyroiditis, Pulmonic stenosis, Ectopia pupillae OMIM:618223
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Growt... OMIM:270400
Mowat-Wilson Syndrome
Cataract, Microcornea, Abnormal enteric ganglion morphology, Chorioretinal coloboma, Ectopia pupi... OMIM:235730
Pseudotrisomy 13 Syndrome
Micropenis, Upslanted palpebral fissure, Renal hypoplasia, Renal agenesis OMIM:264480
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Colitis, Bronchiectasis OMIM:301220
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Corneal scarring, Hypertension, Bradycardia, Retinal hemorrhage,... OMIM:614653
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Corneal scarring, Recurrent corneal erosions, Keratoconjunctivitis sicca, Corneal ulce... OMIM:148210
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... ORPHA:542323
Cousin Syndrome
Rhizomelia, Microcornea, Disproportionate short stature, Hydranencephaly, Microphthalmia OMIM:260660
Biemond Syndrome Type 2
Short stature, Obesity, Delayed puberty, Microphthalmia ORPHA:141333
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Downslanted palpebral fissures, Decreased serum creatinine, Decreased HDL ch... OMIM:618885
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Bardet-Biedl Syndrome 17
Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria OMIM:615994
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Hypoplasia of eyelid, Intrauterine growth retardation, Short stature, Micropeni... OMIM:619321
Chops Syndrome
Cataract, Optic atrophy, Aspiration pneumonia, Obesity, Short stature OMIM:616368
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Decreased body weight, Microphthalmia, Short stature, Mild short stature, Opt... OMIM:614833
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Mmep Syndrome
Microphthalmia ORPHA:3434
Larsen Syndrome
Short stature, Spina bifida occulta, Intrauterine growth retardation, Corneal opacity OMIM:150250
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Postnatal growth retardation, Intrauterine growth... ORPHA:90348
3-Methylglutaconic Aciduria Type 7
Cataract, Cerebellar atrophy, Cerebral atrophy, Cardiomyopathy, Growth delay ORPHA:445038
Cowden Syndrome 1
Cataract, Angioid streaks of the fundus, Thyroiditis OMIM:158350
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Growth delay, Recurrent urinary tract infections, Reduced renal co... ORPHA:731
Donnai-Barrow Syndrome
Proteinuria, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cataract, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy ORPHA:70595
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Anterior lenticonus, Lenticonus, Failure to thrive OMIM:308940
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cataract, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypertrophic cardiomyopathy, A... OMIM:615471
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Hyphema, Iritis, Blepharitis, Uveitis ORPHA:158000
Congenital Disorder Of Deglycosylation 1
Decreased body weight, Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal o... OMIM:615273
Ablepharon Macrostomia Syndrome
Umbilical hernia, Growth delay, Corneal erosion, Corneal opacity ORPHA:920
Gaucher Disease
Hepatitis, Abnormal macular morphology, Cherry red spot of the macula, Osteomyelitis, Retinopathy... ORPHA:355
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Spina bifida, Microphthalmia OMIM:109400
Lymphatic Filariasis
Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Epididymitis ORPHA:2035
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Retin... ORPHA:805
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cataract, Cardiomyopathy ORPHA:363623
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Death ... ORPHA:2241
Neu-Laxova Syndrome 2
Cataract, Intrauterine growth retardation, Spina bifida OMIM:616038
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Urethritis, Hematuria, Elevated cir... ORPHA:449395
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Downslanted palpebral fissures, Horseshoe kidney, Intrauterine growth retardation, Absent eyelash... ORPHA:166035
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency, Death in infancy OMIM:617478
Mend Syndrome
Aortic valve stenosis, Cataract, Failure to thrive, Anterior polar cataract, Macular hypoplasia, ... OMIM:300960
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Epididymitis OMIM:307200
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Abnormality... OMIM:249000
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Volvulus, H... OMIM:301111
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Downslanted palpebral fissures, Epicanthus, Ptosis, Short stature ORPHA:264200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ... ORPHA:93111
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased female libido, ... ORPHA:330015
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 12
Short stature, Immotile sperm, Reduced sperm motility OMIM:612650
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Dilated cardiomyopathy, Cerebral atrophy, Neurodegeneration, Skin rash, Tachycardia OMIM:618321
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Moderate postnatal growth retardation OMIM:118650
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Cataract, Allergic rhinitis, Allergic conjunctivitis, Delayed puberty, Sho... OMIM:176690
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Hallermann-Streiff Syndrome
Congestive heart failure, Proportionate short stature, Developmental cataract, Microphthalmia, Uv... ORPHA:2108
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Short stature, Cataract, Nuclear cataract, Growth delay OMIM:608885
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Death in childhood, Death in infancy, Neonata... OMIM:608978
Bcard Syndrome
Cataract, Intrauterine growth retardation, Postnatal growth retardation, Arterial rupture OMIM:612394
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Obesity, Anisocoria OMIM:618653
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentrat... ORPHA:79303
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Cogan Syndrome
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Scleritis, In... ORPHA:1467
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Intrauterine growth retardation, Developmental glaucoma OMIM:614438
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Short palpebral fissure, Renal agenesis, Horseshoe kidney, Almond-... ORPHA:508498
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts, Death in infancy ORPHA:1318
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Glomerular sc... ORPHA:247691
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive OMIM:619151
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Shigellosis
Pneumonia, Hypovolemic shock, Ulcerative colitis, Failure to thrive in infancy, Peritonitis, Arth... ORPHA:810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic disc hypoplasia, Postnatal growth retardation, Proportionate short stature, Optic... ORPHA:79345
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Relapsing Polychondritis
Cataract, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episcleri... ORPHA:728
Microphthalmia, Syndromic 1
Microcornea, Growth delay, Chorioretinal coloboma, Optic disc coloboma, Recurrent otitis media, C... OMIM:309800
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Failure to thrive in infancy, Intrauterine growth retardation, Decrease... OMIM:610758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, Patent ductus arter... OMIM:615398
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Saul-Wilson Syndrome
Short stature, Cataract, Intrauterine growth retardation, Postnatal growth retardation OMIM:618150
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Growth delay, Eczematoid dermatitis OMIM:619774
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ... ORPHA:243
Ulnar-Mammary Syndrome
Short stature, Renal hypoplasia, Delayed puberty, Hypoplasia of penis ORPHA:3138
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Anterior lenticonus, Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:1018
Renpenning Syndrome 1
Renal hypoplasia, Sparse lateral eyebrow, Telecanthus, Death in childhood, Phimosis, Upslanted pa... OMIM:309500
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Failure to thrive in infancy, Branchial... ORPHA:2162
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma ORPHA:2874
Nocardiosis
Pneumonia, Keratitis, Lymphadenitis, Cutaneous abscess, Osteomyelitis, Chorioretinitis, Infectiou... ORPHA:31204
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Atrophy/Degeneration involving the spinal cord, Dilated cardiomyopathy, Retinal pigment... OMIM:607459
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cataract, Atopic dermatitis, Cerebellar atrophy, Abnormal motor nerve conduction velocity, Abnorm... ORPHA:466768
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos, Facial palsy, Failure to thrive OMIM:615085
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Treacher-Collins Syndrome
Cataract, Branchial fistula, Failure to thrive, Encephalocele, Microphthalmia, Iris coloboma ORPHA:861
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Microcornea, Failure to thrive, Anophthalmia, Microphthalmia, Scleroco... OMIM:607932
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Telecanthus, Growth delay, Downslanted palpebral fissures OMIM:619980
Roberts-Sc Phocomelia Syndrome
Cataract, Postnatal growth retardation, Frontal encephalocele, Corneal opacity, Microphthalmia, S... OMIM:268300
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Roberts Syndrome
Postnatal growth retardation, Long penis, Polycystic kidney dysplasia, Severe intrauterine growth... ORPHA:3103
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short palpebral fissure, Downslanted palpebral fissures, Telecanthus, Upslanted palpebral fissure... OMIM:617260
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Growth delay, Cerebral atrophy, Megalocornea OMIM:601353
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Cataract, Severe short stature, Spina bifida occulta, Facial palsy ORPHA:2780
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Joubert Syndrome 14
Highly arched eyebrow, Downslanted palpebral fissures, Renal cyst, Epicanthus, Ptosis, Growth delay OMIM:614424
Alzahrani-Kuwahara Syndrome
Cataract, Eczematoid dermatitis, Astigmatism, Short stature, Optic disc pallor, Brain atrophy OMIM:619268
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Knobloch Syndrome 2
Vitreoretinopathy, Anterior cortical cataract, Encephalocele, Vitreous floaters, Retinal detachment OMIM:618458
Developmental And Epileptic Encephalopathy 1
Global brain atrophy, Growth delay, Microphthalmia OMIM:308350
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Cataract, Microphthalmia ORPHA:306542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Esophagitis, Sho... OMIM:615356
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Failure to thrive, Eczematoid dermatitis, Intrauterine growth re... OMIM:610443
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Eczematoid dermatitis, Congestive heart failure, Rhizomelic arm shortening, Tricuspid r... ORPHA:508542
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Epistaxis, Umbilical hernia, Decreased nerve conduction velocity, Arrhythmia, Kerato... ORPHA:285
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Renal hypoplasia, Severe postnatal growth retardation, Blepharop... OMIM:620005
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Bilateral ptosis, Elevated circulating creatinine concentration,... ORPHA:230
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Renal hypoplasia, Short palpebral fissure, Eczematoid dermatitis, Recurrent urinary tract infecti... OMIM:617157
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Intrauterine growth retardation, Epicant... OMIM:608022
Smith-Lemli-Opitz Syndrome
Cataract, Rhizomelia, Optic atrophy, Growth delay, Intrauterine growth retardation, Aganglionic m... ORPHA:818
Ciliary Dyskinesia, Primary, 11
Short stature, Reduced sperm motility OMIM:612649
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Cataract, Short stature, Zonular cataract ORPHA:168577
Mednik Syndrome
Cataract, Growth delay OMIM:609313
Oculodentodigital Dysplasia
Optic atrophy, Cataract, Microcornea, Abnormality iris morphology, Umbilical hernia, Arrhythmia ORPHA:2710
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu... ORPHA:79404
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Renal agenesis, Horseshoe ki... ORPHA:2538
Kleefstra Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Supernumerary nipple, Vesicoureteral reflux, Rena... ORPHA:261494
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Intrauterine growth retardation, Cachexia, Microphthalmia ORPHA:1438
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Subaortic Stenosis-Short Stature Syndrome
Obesity, Arrhythmia, Microphthalmia, Short stature, Acne ORPHA:3191
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Gastroesophageal reflux, Sparse eyebrow, Chronic constipation, Bila... OMIM:618829
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Stickler Syndrome
Cataract, Ectopia lentis, Slender build, Astigmatism, Abnormal vitreous humor morphology, Lattice... ORPHA:828
Seckel Syndrome 2
Microphthalmia, Short stature, Heart murmur, Growth delay, Small for gestational age OMIM:606744
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ... OMIM:614700
Bosma Arhinia Microphthalmia Syndrome
Cataract, Microphthalmia OMIM:603457
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia, Failure to thrive OMIM:619950
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Upsl... OMIM:257300
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Retinal coloboma, Large for gestational age, Astigmatism, Spina bifida occulta ORPHA:500095
Estrogen Resistance
Breast aplasia, Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Postnatal growth retardation, Corneal scarring, Dense posterior cortical catar... OMIM:309000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Thrombocytopenia-Absent Radius Syndrome
Cataract, Seborrheic dermatitis, Spina bifida, Corneal opacity, Short stature OMIM:274000
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Diffuse alveolar hemorrhage, Periodontitis, Arterial rupture, Hemothorax, Short stat... OMIM:130050
Miller-Dieker Lissencephaly Syndrome
Cataract, Intrauterine growth retardation, Failure to thrive, Recurrent aspiration pneumonia OMIM:247200
Myhre Syndrome
Aortic valve stenosis, Cataract, Intrauterine growth retardation, Obesity, Birth length less than... OMIM:139210
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, Downslanted palpebral fissures, Horseshoe kidney, Sparse eyelashes, Renal cyst, S... OMIM:250410
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Premature ovarian insufficiency, Endometriosis OMIM:613680
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Iridocycl... ORPHA:85436
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Mody
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney ORPHA:552
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microcornea, Microphthalmia OMIM:616734
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Cerebellofaciodental Syndrome
Short stature, Cataract OMIM:616202
Wiedemann-Rautenstrauch Syndrome
Cataract, Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Failure to thrive, Recurr... ORPHA:3455
Fanconi Anemia, Complementation Group A
Small for gestational age, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Spondylocarpotarsal Synostosis Syndrome
Cataract, Disproportionate short-trunk short stature, Abnormality of retinal pigmentation OMIM:272460
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... OMIM:300707
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:263520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Peters anomaly, Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616975
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Legius Syndrome
Cataract, Vestibular schwannoma, Paroxysmal atrial tachycardia, Short stature, Pulmonic stenosis ORPHA:137605
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Postnatal growth retardation, Birth length less than... ORPHA:3404
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Left ventricular systolic dysfunct... ORPHA:740
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Cataract ORPHA:90153
Leprosy
Corneal perforation, Epistaxis, Abnormal autonomic nervous system physiology, Corneal ulceration,... ORPHA:548
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Multicystic kidney dysplasia, Sparse eyebrow, Eczematoid dermatitis, Upsla... ORPHA:1001
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Corpus callosum at... ORPHA:77299
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Upslanted palpebral fissure, Epicant... OMIM:134780
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Renal cyst, Periorbital dermoid cyst, Lacrimal duct stenosis OMIM:615560
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Diarrhea, Vomiting, Villous atrophy, Death in childhood, Death in infancy, ... OMIM:212065
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Corneal opacity OMIM:219000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Pulmonary arterial hyperten... OMIM:620186
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Lef... OMIM:261740
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Failure to thrive, Recurrent pancreatitis, Pulmonary arterial h... OMIM:606721
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Hyperkeratosis, Erythroderma, Death in infancy OMIM:609180
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Sparse eyebrow, Downslanted palpebral fissures, Intrauterine growth... ORPHA:261349
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the... ORPHA:2461
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Iris coloboma, Microphthalmia ORPHA:3186
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Anorectal anomaly, Hydr... ORPHA:887
Branchiooculofacial Syndrome
Cataract, Nasolacrimal duct obstruction, Retinal coloboma, Postnatal growth retardation, Intraute... OMIM:113620
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Facial palsy OMIM:157640
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypertrophic cardiomyopathy, R... OMIM:124000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst... OMIM:208500
Diamond-Blackfan Anemia 1
Renal hypoplasia, Downslanted palpebral fissures, Intrauterine growth retardation, Epicanthus, Sh... OMIM:105650
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias, Downslanted palpebral... ORPHA:2075
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Chorioretinal coloboma, Microphthalmia OMIM:619135
Joubert Syndrome 2
Failure to thrive, Optic disc coloboma, Chorioretinal coloboma, Encephalocele, Microphthalmia, Re... OMIM:608091
Townes-Brocks Syndrome
Cataract, Iris coloboma, Failure to thrive, Chorioretinal coloboma, Delayed puberty, Microphthalm... ORPHA:857
Tetraamelia Syndrome 1
Cataract, Microphthalmia OMIM:273395
Yunis-Varon Syndrome
Cataract, Bilateral microphthalmos, Cardiomyopathy, Postnatal growth retardation, Hypertension, S... ORPHA:3472
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cataract, Aortic regurgitation, Abnormal optic chiasm morphology, Cerebral... ORPHA:268261
Hereditary Fructose Intolerance
Cataract, Growth delay ORPHA:469
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryp... ORPHA:1655
3-Methylglutaconic Aciduria, Type Viii
Cataract, Failure to thrive, Cerebral atrophy, Bradycardia, Growth delay OMIM:617248
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Downslanted palpebral fissures, Postnatal growth retardation, Intr... OMIM:135900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting, Decreased testicular ... ORPHA:90794
Cerebellar-Facial-Dental Syndrome
Severe short stature, Cataract, Infancy onset short-trunk short stature, Failure to thrive, Abnor... ORPHA:444072
Aymé-Gripp Syndrome
Cataract, Cerebral cortical atrophy, Megalocornea, Postnatal growth retardation, Developmental ca... ORPHA:1272
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, Patent ductus arteriosus ORPHA:261344
Estrogen Resistance Syndrome
Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrhea, Increased circulating gonadot... ORPHA:785
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Witteveen-Kolk Syndrome
Cataract, Branchial fistula, Growth delay, Eczematoid dermatitis, Intrauterine growth retardation... OMIM:613406
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Ganglioneuromatosis, Palpitations, Hypertension associated with pheochromocy... ORPHA:653
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Episcleritis, Skin ... ORPHA:727
Vascular Ehlers-Danlos Syndrome
Keratoconus, Periodontitis, Umbilical hernia, Transient ischemic attack, Abnormal pupil morpholog... ORPHA:286
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Nephrotic syndro... ORPHA:29073
Holoprosencephaly 2
Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia OMIM:157170
Jacobsen Syndrome
Aortic valve stenosis, Cataract, Microcornea, Growth delay, Eczematoid dermatitis, Cerebral atrop... ORPHA:2308
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypoplasia/aplasia, Duplicated collec... ORPHA:2911
Microsporidiosis
Nephritis, Abnormality of the parathyroid gland, Hepatitis, Urethritis, Abnormality of the spleen... ORPHA:2552
Joubert Syndrome 37
Short stature, Obesity, Microphthalmia OMIM:619185
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cataract, Rhizomelia, Macular degeneration, Failure to thrive, Umbilical hernia, Attenuation of r... OMIM:266920
Osteogenesis Imperfecta
Aortic regurgitation, Rhizomelia, Umbilical hernia, Cerebral hemorrhage, Intrauterine growth reta... ORPHA:666
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Skin ras... ORPHA:509
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Intrauterine growth retar... OMIM:194050
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Postnatal growth retardation, Intrauteri... ORPHA:138
Gorlin Syndrome
Cataract, Iris coloboma ORPHA:377
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Infancy onset short-trunk short stature, Highly arched eyebrow, Bilate... ORPHA:508488
Otopalatodigital Syndrome Type 2
Cataract, Failure to thrive, Myelomeningocele, Encephalocele, Developmental glaucoma ORPHA:90652
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Cataract, Microcornea, Optic atrophy, Failure to thrive, Hyphema, Ectopia ... ORPHA:261552
Dyskeratosis Congenita, X-Linked
Cataract, Optic atrophy, Pterygium, Intrauterine growth retardation, Short stature, Conjunctiviti... OMIM:305000
Holoprosencephaly 7
Iris coloboma, Occipital meningocele, Bilateral microphthalmos, Microphthalmia OMIM:610828
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis OMIM:300755
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Neu-Laxova Syndrome 1
Cataract, Hydranencephaly, Pterygium, Small placenta, Intrauterine growth retardation, Short umbi... OMIM:256520
Codas Syndrome
Short stature, Cataract, Developmental cataract OMIM:600373
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Renal hypoplasia, Patent ductus arteriosus, Ureteral stenosis OMIM:270100
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Scleritis, Keratoconjunctivitis, Corneal ulceration, Recurrent bacterial... ORPHA:95159
Lathosterolosis
Cataract OMIM:607330
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Wilson Disease
Sunflower cataract, Kayser-Fleischer ring, Decreased nerve conduction velocity, Atypical or prolo... OMIM:277900
Proteus Syndrome
Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Cachexia, ... ORPHA:744
Pearson Syndrome
Cataract, Pigmentary retinopathy, Cardiomyopathy, Postnatal growth retardation, Cardiac conductio... ORPHA:699
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia OMIM:300863
Monosomy 18P
Short stature, Hypertension, Microphthalmia ORPHA:1598
Fanconi Anemia, Complementation Group S
Short stature, Failure to thrive, Microphthalmia OMIM:617883
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Pseudohypoparathyroidism Type 1C
Cataract, Obesity, Prolonged QT interval, Conjunctivitis, Short stature ORPHA:79444
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gona... OMIM:618419
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Myhre Syndrome
Severe short stature, Cataract, Intrauterine growth retardation, Hypertension ORPHA:2588
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Scalp-Ear-Nipple Syndrome
Cataract, Pyelonephritis, Hypertension ORPHA:2036
Elsahy-Waters Syndrome
Phthisis bulbi, Cataract, Increased cup-to-disc ratio, Megalocornea OMIM:211380
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma, Obesity, Large for gestational age, Short stature ORPHA:2563
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, Severe postnatal... ORPHA:2729
Peters-Plus Syndrome
Renal hypoplasia, Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retarda... OMIM:261540
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Labial hypopl... ORPHA:140952
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Neuromuscular Oculoauditory Syndrome
Epicanthus, Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circul... OMIM:618733
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Hydronephrosis, Renal cyst, Epicanth... ORPHA:93271
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Blomstrand Lethal Chondrodysplasia
Cataract, Rhizomelia, Neonatal short-limb short stature ORPHA:50945
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hydroureter, Failure to thrive, Ureteral stenosis, Splenopancreatic f... OMIM:269150
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Patent ductus arteriosus, Hyperc... ORPHA:369837
Microphthalmia With Limb Anomalies
Failure to thrive, Postnatal growth retardation, Anophthalmia, Microphthalmia, Growth delay OMIM:206920
X-Linked Intellectual Disability, Armfield Type
Short stature, Cataract, Cerebral cortical atrophy ORPHA:85276
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:228390
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Telecanthus, Multiple renal cysts ORPHA:1190
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Endometriosis, Micropenis, Premature ovarian insuffi... ORPHA:363444
Charge Syndrome
Cataract, Umbilical hernia, Retinal coloboma, Postnatal growth retardation, Unilateral microphtha... OMIM:214800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia ORPHA:163966
Heart And Brain Malformation Syndrome
Global brain atrophy, Cerebral atrophy, Microphthalmia, Growth delay, Brain atrophy OMIM:616920
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Renal hypoplasia, Vesicoureteral reflux, Upslanted palpebral fissure, Epicanthus, Ptosis, Short s... OMIM:309580
Aspartylglucosaminuria
Short stature, Macroorchidism OMIM:208400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Digeorge Syndrome
Acne, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Obesity, Recurrent sinusitis... OMIM:188400
Moebius Syndrome
Facial diplegia, Microphthalmia OMIM:157900
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Joubert Syndrome 1
Nephropathy, Highly arched eyebrow, Renal cyst, Epicanthus, Ptosis OMIM:213300
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Exocrine pancreatic insufficie... ORPHA:586
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Downslanted palpebral fissures, Bifid ureter, Nephroblastoma, Renal cyst, Epican... OMIM:617107
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle ... OMIM:617403
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate, Pyloric stenosis ORPHA:261197
Frontometaphyseal Dysplasia
Spina bifida occulta, Abnormal cornea morphology, Growth delay, Astigmatism ORPHA:1826
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cataract, Intrauterine growth retardation, Gastrointestinal hemorrhage ORPHA:247598
Cranioectodermal Dysplasia 2
Rhizomelia, Sparse eyebrow, Telecanthus, Hyperbilirubinemia, Renal insufficiency, Upslanted palpe... OMIM:613610
Currarino Syndrome
Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Neurogenic bladder, Urinary incontinence... OMIM:176450
Genitopatellar Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Fine hair, Hydronephrosis, Sparse scalp hair ORPHA:85201
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Postnatal growth retardation, Intrauterine growth retardation, Microphtha... ORPHA:2728
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Brucellosis
Failure to thrive, Epididymitis, Orchitis, Weight loss, Hyperhidrosis, Small for gestational age ORPHA:1304
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cataract, Pneumonia, Failure to thrive, Obesity, Retinopathy, Cardiac cond... ORPHA:353281
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Aspartylglucosaminuria, Splenomegaly ORPHA:93
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis... ORPHA:32960
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Cataract, Failure to thrive, Nuclear pulverulent cataract, Sutural cataract... OMIM:612474
Acrocephalopolydactylous Dysplasia
Epicanthus, Upslanted palpebral fissure, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hyperamylase... ORPHA:99826
Bardet-Biedl Syndrome
Cataract, Inflammation of the large intestine, Cardiomyopathy, Obesity, Astigmatism, Otitis media... ORPHA:110
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Intrauterine growth retardation, Microph... OMIM:617729
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Ureth... OMIM:107480
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts ORPHA:284
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microphthalmia OMIM:620601
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Fetal Alcohol Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1915
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Alg9-Cdg
Periportal fibrosis, Hepatic cysts, Hydronephrosis, Hypoplastic nipples, Hypoplasia of the ovary,... ORPHA:79328
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Neonatal death, Micropenis OMIM:617925
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short stature, Cataract OMIM:300990
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Epididymitis, Congenital hydrocele, Parotitis OMIM:620376
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Cataract ORPHA:3042
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... OMIM:619534
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Hydrolethalus
Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Renal cyst, Upslanted palpebral f... OMIM:261515
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Opitz Gbbb Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Enlarged ovaries, Shawl scr... ORPHA:2745
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cerebrocostomandibular Syndrome
Short stature, Intrauterine growth retardation, Multicystic kidney dysplasia, Death in infancy ORPHA:1393
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Scleritis, Keratoconjunctivitis, Corneal ulceration, Recurrent bacterial... ORPHA:79277
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Severe intrauterine growth retardation, Microphthalmia OMIM:241410
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Disproportionate short-limb short stature, Downslanted palpebral fi... ORPHA:1507
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Short stature, Anencephaly, Small for gestational age, Pulmonic st... OMIM:619148
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes... ORPHA:411709
Trisomy 10P
Short palpebral fissure, Downslanted palpebral fissures, Intrauterine growth retardation, Upslant... ORPHA:171929
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Cerebrocostomandibular Syndrome
Anal stenosis, Gastroesophageal reflux, Anteriorly placed anus, Horseshoe kidney, Cleft soft pala... OMIM:117650
Distal Deletion 15Q
Multicystic kidney dysplasia, Growth delay, Postnatal growth retardation, Intrauterine growth ret... ORPHA:1596
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Epididymitis ORPHA:183675
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Orofaciodigital Syndrome Xiv
Telecanthus, Unilateral renal hypoplasia, Upslanted palpebral fissure, Micropenis, Epispadias OMIM:615948
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Microphthalmia ORPHA:435638
Bloom Syndrome
Azoospermia, Intrauterine growth retardation, Severe postnatal growth retardation, Oligozoospermi... ORPHA:125
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Cataract, Failure to thrive, Retinal coloboma, Recurrent otitis media, Ast... ORPHA:261537
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Stillbirt... OMIM:236680
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Orofaciodigital Syndrome Type 1
Sparse hair, Multicystic kidney dysplasia, Alopecia, Coarse hair, Hamartoma of tongue, Exocrine p... ORPHA:2750
Sarcoidosis
Cataract, Bronchiectasis, Parotitis, Heart block, Portal hypertension, Maculopapular exanthema, A... ORPHA:797
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Cerebellar atrophy, Eczematoid dermatitis, Bilateral microphthalmos, Cerebr... ORPHA:468631
Mowat-Wilson Syndrome
Aortic valve stenosis, Cataract, Growth delay, Retinal coloboma, Recurrent otitis media, Astigmat... ORPHA:2152
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm ORPHA:538
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Schinzel-Giedion Syndrome
Anteriorly placed anus, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosi... ORPHA:798
Classical Ehlers-Danlos Syndrome
Abnormal cornea morphology, Umbilical hernia, Arterial rupture, Mitral regurgitation, Abnormal he... ORPHA:287
1P36 Deletion Syndrome
Gastroesophageal reflux, Horizontal eyebrow, Abnormal eyebrow morphology, Hydronephrosis, Renal c... ORPHA:1606
Frontonasal Dysplasia 2
Intrauterine growth retardation, Encephalocele, Microphthalmia OMIM:613451
Yunis-Varon Syndrome
Cataract, Cardiomyopathy, Aspiration pneumonia, Failure to thrive in infancy, Intrauterine growth... OMIM:216340
Rubinstein-Taybi Syndrome 1
Keloids, Failure to thrive, Bilateral cryptorchidism, Cryptorchidism, Premature thelarche, Enamel... OMIM:180849
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Antecubital pterygium, Popliteal pterygium, Microphthalmia OMIM:609945
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Anophthalmia, Microphthalmia ORPHA:2717
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Orchitis, Hyperhidrosis, Acute pancreatitis, Epididymitis ORPHA:99827
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Multicystic kidney dysplasia, Gastroesophageal reflux, Anal stenosis, Intestinal mal... OMIM:300373
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Upslanted palpebral fissure, Death in infancy, Re... ORPHA:1308
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Microphthalmia With Limb Anomalies
Optic atrophy, Failure to thrive, True anophthalmia, Microphthalmia, Short stature ORPHA:1106
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Noonan Syndrome 1
Hypogonadism, Postnatal growth retardation, Cryptorchidism, Short stature, Hypospadias, Male infe... OMIM:163950
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Death in... ORPHA:2052
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Chorioretinitis, Iridocyclitis, Weight loss, Pulmonary arter... OMIM:181000
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A... OMIM:618280
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Small for gestational age, Microphthalmia OMIM:610832
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Small for gestational age, Microphthalmia OMIM:227645
C Syndrome
Renal cortical cysts, Patent ductus arteriosus OMIM:211750
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Supernumerary nippl... ORPHA:373
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E... OMIM:130650
Hajdu-Cheney Syndrome
Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Multiple renal cysts, Delayed puberty... ORPHA:955
Fanconi Anemia, Complementation Group E
Short stature, Small for gestational age, Microphthalmia OMIM:600901
Ohdo Syndrome, X-Linked
Decreased body weight, Microphthalmia OMIM:300895
Cornelia De Lange Syndrome
Highly arched eyebrow, Multicystic kidney dysplasia, Intrauterine growth retardation, Curly eyela... ORPHA:199
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Annular pancreas, Neonatal death, Hydronephrosis, Asplenia, Bicornuate uterus, Hypos... OMIM:265380
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospadias, Renal dysplasia ORPHA:397715
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Teebi-Shaltout Syndrome
Short stature, Aortic valve stenosis, Microphthalmia OMIM:272950
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus ORPHA:3320
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Unilateral renal agenesis, Failure to thrive, Decreased response to growth... OMIM:619503
Beckwith-Wiedemann Syndrome
Nephropathy, Macroglossia, Exocrine pancreatic insufficiency, Vesicoureteral reflux, Nephroblasto... ORPHA:116
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Short nail, Exaggerated median tongue furrow, Duplication of renal pelvis, Meckel ... OMIM:312870
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Bicornuate uterus OMIM:154400
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cowden Syndrome
Abnormal penis morphology, Failure to thrive, Abnormality of the uterus, Goiter, Endometrial carc... ORPHA:201
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Fanconi Anemia, Complementation Group D2
Short stature, Small for gestational age, Microphthalmia OMIM:227646
Fontaine Progeroid Syndrome
Failure to thrive, Umbilical hernia, Tricuspid regurgitation, Intrauterine growth retardation, Pu... OMIM:612289
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Downslanted palpebral fissures, Intrauterin... ORPHA:3310
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ... OMIM:606170
Alström Syndrome
Cone/cone-rod dystrophy, Glomerulonephritis, Retinal pigment epithelial atrophy, Abnormal coronar... ORPHA:64
Holoprosencephaly 9
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia OMIM:610829
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Neurogenic bladder, Perineal fistula, Endometriosis OMIM:614075
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Microphthalmia ORPHA:2166
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia, Limbal dermoid OMIM:164210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Pallister-Killian Syndrome
Bifid uvula, Anal stenosis, Sparse eyebrow, Sparse scalp hair, Alopecia, Anteriorly placed anus, ... OMIM:601803
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Ectopic kidney, Thyroid hypopla... ORPHA:672
Adams-Oliver Syndrome 1
Aortic valve stenosis, Encephalocele, Pulmonary arterial hypertension, Microphthalmia, Hypertensi... OMIM:100300
Monosomy 9P
Microphthalmia ORPHA:261112
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Delayed puberty OMIM:619613
Isolated Arrhinia
Microphthalmia ORPHA:1134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Vesicoureteral reflux, Cryptor... ORPHA:438213
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Failure to thrive, Male infertility OMIM:219700
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Bilateral microphthalmos OMIM:154500
Coffin-Lowry Syndrome
Uterine prolapse, Decreased body weight OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Pmm2-Cdg
Hypoalbuminemia, Upslanted palpebral fissure, Reduced thyroxin-binding globulin, Proteinuria, Epi... ORPHA:79318
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse 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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