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Gene: Mab21l1 MGI:1333773

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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:
mab-21-like 1
Synonyms:
N/A

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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 Mab21l1 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 Mab21l1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Low anterior hairline, Buphthalmos, Keratoconjunctivitis s... OMIM:618479

The table below shows human diseases predicted to be associated to Mab21l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract, Infertility OMIM:300719
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
WAGR 11p13 deletion syndrome
Aniridia, Abnormality of the male genitalia DECIPHER:35
Aniridia 3
Aniridia, Cataract OMIM:617142
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth horm... OMIM:275400
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma, Unilateral renal agenesis OMIM:206750
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency... ORPHA:3156
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
D-Lactic Aciduria With Gout
Aniridia, Lacticaciduria OMIM:245450
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis ORPHA:1064
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal opt... ORPHA:1101
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Aniridia, Hypoplastic female e... OMIM:612469
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Nephroblastoma
Aniridia, Hematuria ORPHA:654
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... OMIM:610125
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal vascular tortuosity, Rieger anomaly, Cataract, Hypoplasia of... OMIM:609049
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair ORPHA:1264
Trisomy 13
Cataract, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, Abnormal retinal vascular mo... ORPHA:3378
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia, Primary amenorrhea OMIM:616947
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia OMIM:613730
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... ORPHA:233
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Cataract, Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Hypertensive retinopathy, Proteinuria, Elevated urinary norepineph... ORPHA:29072
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Nance-Horan Syndrome
Microcornea, Microphthalmia, Retinal detachment, Cataract ORPHA:627
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... OMIM:120200
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... OMIM:221900
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege... ORPHA:816
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Pigmentary retinopathy,... OMIM:268020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair OMIM:229200
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma, Microphthalmia OMIM:613153
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Hypo... ORPHA:782
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Abnormal vitreous humor morpho... ORPHA:2788
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin... ORPHA:3363
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom... ORPHA:1390
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Optic atrophy, Coloboma OMIM:274270
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, A... OMIM:615986
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,... ORPHA:170
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Proteinuria, Retinal dystrophy, Non-acidotic proximal tubulopathy, ... OMIM:222448
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Low po... ORPHA:85194
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism, Primary amenorrhea, Abnorma... ORPHA:293967
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... ORPHA:90354
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Generalized hirsutism ORPHA:3019
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d... ORPHA:899
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Chondrodysplasia-Difference Of Sex Development Syndrome
Hypoplasia of the iris, Male pseudohermaphroditism, Chorioretinal coloboma ORPHA:1422
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Renal hypoplasia, Coloboma OMIM:615665
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypo... ORPHA:2611
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold OMIM:108145
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal... OMIM:219900
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalm... ORPHA:2505
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Low anterior hairline, Optic atrophy, Developmental cataract, Micr... OMIM:615663
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal ... OMIM:613001
Dermoids Of Cornea
Corneal opacity OMIM:304730
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Low anterior hairline, Optic atrophy, Developmental cata... OMIM:614225
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Microphthalmia, Syndromic 8
Microcornea, Cryptorchidism, Microphthalmia OMIM:601349
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Trisomy 12P
Aplasia/Hypoplasia of the iris, Thick eyebrow, Aplasia/Hypoplasia affecting the eye, Supernumerar... ORPHA:1699
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Microcornea, Long eyelashes, Microphthalmia ORPHA:48431
Short Syndrome
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... ORPHA:3163
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Sparse hair, Microphthalmia, Micropenis OMIM:610756
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Small scrotum, Chorioretinal atrophy OMIM:245800
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Male pseudohermaphroditism, Optic disc coloboma OMIM:600092
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Urinary incontinence, Optic atrophy, Pigmentar... OMIM:609033
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, True hermaphroditism, Pancreatic fi... ORPHA:564
Focal Dermal Hypoplasia
Ureteral duplication, Linear hyperpigmentation, Brittle hair, Anophthalmia, Clitoral hypoplasia, ... OMIM:305600
Warburg Micro Syndrome 3
Cataract, Small scrotum, Hypoplastic labia minora, Low anterior hairline, Optic atrophy, Developm... OMIM:614222
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo... OMIM:614105
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:617023
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2328
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Hypogonadism, Microphthalmia ORPHA:141333
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ... ORPHA:3437
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Optic atrophy, Decreased fertility, ... OMIM:234050
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia, Hypertrichosis OMIM:612379
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iri... OMIM:218340
Gms Syndrome
Rieger anomaly ORPHA:2090
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Vesicoureteral reflux OMIM:244600
Bresek Syndrome
Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Ve... ORPHA:85284
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Low posterior hairline, Hypoplastic labia majora, Retinal coloboma, Mic... OMIM:244300
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Microphthalmia, Retinopathy ORPHA:773
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Coarse hair, Mucop... ORPHA:585
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Macular dystrophy, Retino... ORPHA:1897
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly, Nephrolithiasis, Primary congenital glaucoma, Buphthalmos, Th... ORPHA:521445
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, ... ORPHA:494344
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Cln3 Disease
Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Urinary bladder sphincte... ORPHA:228346
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Proteinuria, Abnormal retinal... ORPHA:2715
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia, Renal tubular aci... ORPHA:1493
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Curry-Jones Syndrome
Optic disc coloboma, Hypopigmented skin patches, Generalized hirsutism, Microphthalmia, Iris colo... ORPHA:1553
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Sparse lateral eyebrow, Cataract OMIM:619694
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Pigmentary retinopathy, Testicular atro... OMIM:222300
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Abnormality of skin pigmentati... ORPHA:1806
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Abnormality of nail color, Astigmatism ORPHA:1824
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Astigmatism, Corneal dystrophy OMIM:253250
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia,... ORPHA:2712
Pierpont Syndrome
Microcornea, Cryptorchidism, High anterior hairline, Microphthalmia ORPHA:487825
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Gombo Syndrome
Microphthalmia OMIM:233270
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... ORPHA:1173
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe OMIM:109120
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cataract, Hypogonadism, Pigmentary retinopathy ORPHA:79095
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Pierpont Syndrome
Cryptorchidism, High anterior hairline, Microcornea, Microphthalmia, Micropenis OMIM:602342
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Adams-Oliver Syndrome 2
Alopecia, Optic atrophy, Low anterior hairline, Developmental cataract, Microphthalmia OMIM:614219
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... OMIM:251300
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ect... OMIM:615877
Microphthalmia, Lenz Type
Cataract, Hypospadias, Hydroureter, Cryptorchidism, Optic disc coloboma, Microcornea, Hydronephro... ORPHA:568
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... OMIM:309801
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Cataract, Oligosacchariduria, Microphthalmia, Hypopigmentation of the fundus ORPHA:163649
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Spermatogenic Failure 17
Male infertility OMIM:617214
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia, Generalized hypop... OMIM:617306
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Low anterior hairline OMIM:249310
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Microphthalmia, ... ORPHA:1791
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ... ORPHA:1433
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Chorioretinal coloboma, Microphtha... OMIM:243310
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Cataract, Female hypogonadism, Premature ovarian insufficiency, Iri... OMIM:240300
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis OMIM:614230
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoa... OMIM:214110
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Dubowitz Syndrome
Sparse scalp hair, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocor... OMIM:223370
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Alopecia, Cataract, Supernumerary nipple, Keratitis,... OMIM:308300
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Alopecia, Corneal opacity, Ectopia lentis, Horseshoe kidney, Hypopl... ORPHA:2092
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronep... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma, Horizontal eyebrow, Microphthalmia OMIM:618571
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Cockayne Syndrome B
Dry hair, Renal insufficiency, Proteinuria, Abnormal hair morphology, Cryptorchidism, Optic atrop... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch... OMIM:236670
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Short Syndrome
Rieger anomaly, Cataract, Ovarian cyst, Astigmatism, Megalocornea OMIM:269880
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Pigmentary retinopathy ORPHA:88628
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis, Pigmentary retinopathy ORPHA:370968
Frontonasal Dysplasia 1
Microphthalmia, Widow's peak, Cataract, Coloboma OMIM:136760
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Renal hypoplasia OMIM:600151
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... ORPHA:335
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy,... OMIM:605231
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral m... ORPHA:2399
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Microtriplication 11Q24.1
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow ORPHA:289522
Usher Syndrome
Abnormality of retinal pigmentation, Astigmatism, Decreased fertility, Cataract ORPHA:886
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Coloboma, Peters anomaly OMIM:618652
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Phace Association
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... OMIM:606519
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Scle... OMIM:206900
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Trichothiodystrophy 3, Photosensitive
Brittle hair, Cataract, Bilateral cryptorchidism, Developmental cataract, Microphthalmia, Tiger t... OMIM:616395
Werner Syndrome
Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Abnormal hair whorl, Decreased ... ORPHA:902
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow OMIM:617121
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
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
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho... ORPHA:193
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Optic atrop... ORPHA:2067
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia OMIM:127000
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... ORPHA:79098
Fanconi Anemia
Renal insufficiency, Cataract, Hydroureter, Hypospadias, Abnormal preputium morphology, Cryptorch... ORPHA:84
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Renal hypoplasia, ... OMIM:609053
Jeune Syndrome
Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis ORPHA:474
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Nail dystrophy, Highly arched eyebrow OMIM:300887
Steinfeld Syndrome
Microphthalmia, Absent gallbladder, Retinal coloboma, Iris coloboma OMIM:184705
Heimler Syndrome 1
Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy OMIM:234580
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal s... OMIM:612582
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Abnormality of skin pi... ORPHA:2556
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... OMIM:615994
Marfan Syndrome
Retinal detachment, Flat cornea, Ectopia lentis, Lens luxation, Increased axial length of the glo... ORPHA:558
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Hydronephrosis, Retinal coloboma, Facial hirsutism, Ambigu... ORPHA:2839
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism, Cataract, Hirsutism OMIM:214150
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Rieger anomaly, Highly arched eyebrow, Synophrys, Thick eyebrow OMIM:270450
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Nail-Patella Syndrome
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu... OMIM:161200
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia OMIM:615524
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Functional abnormality of the bladder, Yellow/white lesions of the retina... ORPHA:100996
Incontinentia Pigmenti
Retinal detachment, Alopecia, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Super... ORPHA:464
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ... OMIM:209900
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Widow's peak, Coloboma, Microphthalmia, Conjunctival hyperemia OMIM:167730
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris ORPHA:169090
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anophthalmia, Ch... ORPHA:2526
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis, Pigmentary retinopathy OMIM:613156
Alstrom Syndrome
Cone/cone-rod dystrophy, Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased... OMIM:203800
Angelman Syndrome
Keratoconus, Optic disc pallor, Precocious puberty in females, Optic atrophy, Astigmatism, Delaye... ORPHA:72
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphthalmia, Sparse... OMIM:618804
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Ect... ORPHA:42775
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Trichothiodystrophy 1, Photosensitive
Cataract, Brittle hair, Trichoschisis, Freckling, Fine hair, Microcornea, Keratoconjunctivitis si... OMIM:601675
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cockayne Syndrome Type 1
Renal insufficiency, Cataract, Proteinuria, Anophthalmia, Hypermelanotic macule, Cryptorchidism, ... ORPHA:90321
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... ORPHA:2235
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... OMIM:107320
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmos, Cafe-au-lait spot, Macr... OMIM:618874
Jacobsen Syndrome
Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hy... OMIM:147791
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Cryptorchidi... OMIM:619194
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Retinal arteriolar tortuosity, Optic atr... OMIM:230740
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation ORPHA:122
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Horseshoe kidney, Microcornea, Bladder dive... ORPHA:959
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Classic Galactosemia
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... ORPHA:79239
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... OMIM:618175
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Hydronephrosis, Micro... ORPHA:3380
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal ... ORPHA:91500
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Coloboma, Vaginal fistula,... OMIM:619318
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Abnormal fallopian tu... ORPHA:3412
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi... ORPHA:35173
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, Microphthalmia OMIM:201180
Classic Homocystinuria
Retinal detachment, Sparse scalp hair, Cataract, Abnormality of retinal pigmentation, Ectopia len... ORPHA:394
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism, Highly arched eyebrow, Chorioretinal coloboma OMIM:619135
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi... OMIM:613550
Marfan Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... OMIM:154700
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Alagille Syndrome
Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Abnormality of the ure... ORPHA:52
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Pineob... ORPHA:790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Retinal colo... OMIM:607323
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Corneal crystals, Renal tubular dysfunction, Glycosuria, Abnormal cornea morph... ORPHA:411629
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Sparse hair, Microphthalmia, Hydronephrosis, Clitoral hypertr... OMIM:616449
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Sparse hair OMIM:242150
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Cockayne Syndrome Type 3
Optic disc pallor, Dry hair, Cataract, Renal insufficiency, Neurogenic bladder, Unilateral renal ... ORPHA:90324
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Desmoid Tumor
Abnormality of retinal pigmentation, Hydronephrosis ORPHA:873
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Alopecia, Anophthalmia OMIM:164180
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, External genital hypoplasia, Unilateral r... ORPHA:141099
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Highly arched eyebrow OMIM:614583
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopath... OMIM:214100
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Costello Syndrome
Keratoconus, Generalized hyperpigmentation, Abnormal hair morphology, Cryptorchidism, Woolly hair ORPHA:3071
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Frontorhiny
Cataract, Widow's peak, Microphthalmia, Hypopituitarism, Iris coloboma ORPHA:391474
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Mic... OMIM:613884
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... ORPHA:93325
Cockayne Syndrome
Dry hair, Urinary incontinence, Lentiglobus, Retinal arteriolar constriction, Retinal degeneratio... ORPHA:191
Joubert Syndrome 3
Retinal dystrophy, Highly arched eyebrow, Stage 5 chronic kidney disease, Pigmentary retinopathy,... OMIM:608629
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, M... OMIM:257850
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, Abnormal cornea morphology, External gen... ORPHA:65759
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Ectopic kidney ORPHA:268249
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Primary amenorrh... OMIM:603457
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Highly arched eyebrow, Trichiasis, Renal hypoplasia, Renal cyst, Corneal sc... OMIM:618460
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Low anterior hairline, Developmental cat... OMIM:212720
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Hypertrichosis OMIM:256000
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Horseshoe kidney, Abnormality of skin pigmentation, Microphthalmia ORPHA:65286
Joubert Syndrome 14
Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Renal cyst, Coloboma, Microphthalmia OMIM:614424
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Seckel Syndrome 2
Few cafe-au-lait spots, Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Re... OMIM:614866
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Vesicoureteral reflux, Microphthalmia, ... OMIM:115470
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Enlarged kidney OMIM:613885
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... ORPHA:636
Linear Nevus Sebaceus Syndrome
Alopecia, Melanocytic nevus, Adenoma sebaceum, Microphthalmia, Irregular hyperpigmentation, Iris ... ORPHA:2612
Ramon Syndrome
Optic disc pallor, Enlarged labia minora, Pigmentary retinopathy, Axenfeld anomaly, Hypertrichosis OMIM:266270
Neurotrophic Keratopathy
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... ORPHA:137596
Monosomy 9Q22.3
Microphthalmia, Cataract, Retinopathy, Ovarian fibroma ORPHA:77301
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... ORPHA:8
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Crypto... OMIM:268400
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Sparse hair, Microphthalmia, Micropenis, Hydronephrosis OMIM:619185
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Optic disc colobom... OMIM:234100
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Cryptorchidism, Renal hypoplasia, Keratoconjunctivitis, Hydronephros... ORPHA:2363
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia, Hyperpigmented streaks, Sclerocornea OMIM:300952
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Microcornea, Bladder diverticulum, Decreased urinary lysyl-pyrid... OMIM:225400
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Cryptorchidism, Synophrys, Optic disc coloboma, Low anterior hairline, ... ORPHA:251014
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Nephronophthisis, Hypopl... OMIM:608091
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Renal cyst, Polycystic ovaries, Microphthalmia, Megalocornea, Con... ORPHA:137675
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:192
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha... OMIM:617914
Alagille Syndrome 1
Cataract, Band keratopathy, Multiple small medullary renal cysts, Abnormal anterior chamber morph... OMIM:118450
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hypop... OMIM:219800
Williams Syndrome
Hypoplasia of penis, Nephrocalcinosis, Vesicoureteral reflux, Megalocornea, Pelvic kidney, Hypogo... ORPHA:904
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Developmental cataract OMIM:620185
Monosomy 13Q14
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma ORPHA:1587
1Q21.1 Microdeletion Syndrome
Cataract, Cryptorchidism, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma ORPHA:250989
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Aicardi Syndrome
Retinal detachment, Cataract, Precocious puberty, Chorioretinal lacunae, Optic disc coloboma, Opt... OMIM:304050
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Cohen Syndrome
Chorioretinal dystrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Decreas... OMIM:216550
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Anophthalmia, Cryptorchidism, Optic disc coloboma, Renal hypoplasia, Mi... OMIM:309800
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Thick hair, Primary amenorrhea, Pigmentary retinopathy, Increased circulating ... ORPHA:502423
Cockayne Syndrome A
Dry hair, Cataract, Renal insufficiency, Proteinuria, Retinal atrophy, Cryptorchidism, Retinal pi... OMIM:216400
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Pigmentary retinopathy ORPHA:3208
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ... ORPHA:99776
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizon... ORPHA:369891
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas OMIM:560000
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Cryptorchidism, Bilateral microphthalmos, Developmental cataract... ORPHA:33364
Fryns Syndrome
Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Ve... ORPHA:2059
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Coloboma, Micropht... OMIM:147250
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Microphthalmia, Hydrone... OMIM:302960
Lymphedema-Distichiasis Syndrome
Yellow nails, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Dis... OMIM:153400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Sparse hair, Microp... OMIM:601812
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Microphthalmia ORPHA:228390
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Developmental cataract, Microcornea, Male urethra... ORPHA:464738
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Adams-Oliver Syndrome
Sparse hair, Microphthalmia, Alopecia, Cataract ORPHA:974
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Bilateral microphthalmos, Optic nerve hypoplasia, Hyperpigmented nevi OMIM:607597
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Frontofacionasal Dysplasia
Cataract, Microcornea, Microphthalmia, Absent inner eyelashes, Iris coloboma OMIM:229400
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... OMIM:300166
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Proteinuria, Cyclopia, Highly arched eyebrow, Cryptorchidism, ... ORPHA:2162
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Coloboma, Abnormal optic... ORPHA:508498
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly ... OMIM:619539
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Thick hair, Retinal degeneration, Heparan sulfate excretion in urine, ... ORPHA:581
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Microphthalmia, Micropenis... ORPHA:1692
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Cataract, Renal cyst OMIM:272460
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Low anterior hairline, Buphthalmos, Keratoconjunctivitis s... OMIM:618479
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Widow's peak, Optic atrophy, Renal cyst, Multiple cafe-au-lait spots... OMIM:616975
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Cataract, Urinary incontinence ORPHA:466768
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot ORPHA:364577
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypopituitarism, Distichiasis OMIM:600462
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Bilateral cryptorc... OMIM:263650
Curry-Jones Syndrome
Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism OMIM:601707
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... ORPHA:163934
Prolidase Deficiency
Abnormality of retinal pigmentation, Low anterior hairline, White forelock, Generalized hirsutism... ORPHA:742
Oculodentodigital Dysplasia
Neurogenic bladder, Dry hair, Cataract, Slow-growing hair, Uveitis, Fine hair, Microcornea, Spars... OMIM:164200
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Absent eyelashes, Cryptorchidis... ORPHA:861
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Cousin Syndrome
Ambiguous genitalia, female, Low anterior hairline, Microcornea, Ambiguous genitalia, male, Facia... OMIM:260660
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:618494
Fanconi Anemia, Complementation Group S
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, Micropht... OMIM:617883
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Renal insufficiency, Rectoperineal fis... ORPHA:857
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... ORPHA:436271
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Chorioretinal lacunae, Multiple renal cysts, Reti... OMIM:618733
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... ORPHA:2108
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Heparan sulfate excretion in u... ORPHA:217085
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,... ORPHA:505248
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Abetalipoproteinemia
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Rod-cone dys... ORPHA:14
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Retinal dystrophy, Cryptorchidism... OMIM:607932
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Heparan sulfate excretion in u... ORPHA:217093
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Primary amenorrhea, Thick hair, Increased circulating prolactin concentra... OMIM:617675
Kearns-Sayre Syndrome
Hypoparathyroidism, Renal tubular acidosis, Renal Fanconi syndrome, Pigmentary retinopathy OMIM:530000
Atypical Werner Syndrome
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Premature ovarian insuffic... ORPHA:79474
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Dermatan su... OMIM:309900
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes OMIM:613456
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, General... ORPHA:744
Aceruloplasminemia
Macular degeneration, Abnormal pancreas morphology, Retinal degeneration, Abnormality of retinal ... ORPHA:48818
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal cornea morphology OMIM:244400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Neph... ORPHA:534
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Cataract, Corneal opacity, Vaginal neoplasm, Multiple cafe-au-lait ... ORPHA:1052
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... OMIM:220110
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Micropht... OMIM:273395
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Low poste... OMIM:194190
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Cataract OMIM:607459
Basal Cell Nevus Syndrome 1
Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma OMIM:109400
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:580
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Monosomy 18P
Microphthalmia, Alopecia, Low posterior hairline ORPHA:1598
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... ORPHA:90793
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Cryptorchidism... ORPHA:138
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Synophrys, Low anterior hairline, Microcornea, Ureter... OMIM:616734
Mend Syndrome
Microphthalmia, Cryptorchidism, Cataract, Spotty hypopigmentation ORPHA:401973
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Pseudotrisomy 13 Syndrome
Cyclopia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism, Low anterior hairline, Highly arched eyebrow ORPHA:404440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Deafness, X-Linked 7
Unilateral microphthalmos, Thick eyebrow OMIM:301018
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Sparse hair, Microphthalmia, C... ORPHA:3103
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Microphthalmia ORPHA:2728
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
Myoclonic-Astatic Epilepsy
Microphthalmia, Frontal balding ORPHA:1942
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Proteinuria, Decreased response to growth horm... ORPHA:699
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Cafe-au-... OMIM:603467
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Optic disc coloboma, Hy... OMIM:620186
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidne... OMIM:227650
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Myoglobinuria OMIM:609015
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Corneal sca... ORPHA:404454
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Renpenning Syndrome 1
Brittle hair, Cataract, Hypospadias, Phimosis, Renal hypoplasia, Coloboma, Sparse hair, Microphth... OMIM:309500
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Rena... OMIM:229850
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Microphthalmia ORPHA:306542
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia, Cafe-au-la... OMIM:619148
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Branchiooculofacial Syndrome
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Cryptorchidism, Renal cyst, Low poster... OMIM:113620
Charge Syndrome
Hypoparathyroidism, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:214800
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Optic atrophy, Methy... ORPHA:79282
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Premature ovarian insufficiency, Retinal pigment epithelial mottling... OMIM:251260
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Sparse eyebrow, Synophrys, Microphthalmia, High anterior hairline, Thick ey... OMIM:620098
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia OMIM:619053
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder, Cyclopia, Iris coloboma ORPHA:3186
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Retinal arteriolar tortuosity, Cryptorchidism, Optic a... ORPHA:567
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Microphthalmia, Supernumerary nipple OMIM:612530
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Ohdo Syndrome, X-Linked
Small scrotum, Sparse eyebrow, Cryptorchidism, High anterior hairline, Shawl scrotum, Microphthal... OMIM:300895
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Cyclopia, ... ORPHA:2166
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Cryptorchidism, Renal hypoplasia, Sparse hair, Microphthalmia OMIM:620005
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Cataract, Polyuria, Developmental cataract, Pigmentary retinopathy, Sparse hair OMIM:606721
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Pigmentary retinopathy ORPHA:746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia,... OMIM:600901
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot OMIM:608670
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse h... OMIM:613451
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Sparse eyebrow, Mucopolysacchariduria, Sparse hair, Aplasia/... ORPHA:175
Melas
Hypoparathyroidism, Hypogonadotropic hypogonadism, Proteinuria, Optic atrophy, Vitiligo, Focal se... ORPHA:550
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased testicular size, Hydroureter, Decreased response to growth hormone ... OMIM:146510
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Hypospadias, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Cryptor... ORPHA:3472
Fetal Alcohol Syndrome
Microphthalmia, Generalized hirsutism ORPHA:1915
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611134
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Abnormality of the uret... OMIM:249000
Myhre Syndrome
Cataract, Cryptorchidism, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow OMIM:139210
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney OMIM:617244
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Annular pancreas, Horseshoe kidne... OMIM:227646
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Microphthalmia,... OMIM:227645
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Horseshoe kidney, Popliteal pt... OMIM:609945
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Corneal opacity, Hypospadias, Absent eyelashes, Cryptorchidism, Bil... OMIM:219000
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Abnormal hair pattern ORPHA:2717
Holoprosencephaly 7
Synophrys, Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma OMIM:610828
Bloom Syndrome
Male infertility, Hypopigmentation of the skin, Premature ovarian insufficiency, Sparse eyelashes... ORPHA:125
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureteral reflu... ORPHA:261552
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Corneal opacity, Enlarged labia minora, Cryptorchidism, Long penis, Horses... OMIM:268300
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Cataract, Hypogonadotropic hypogonadism, Corneal opacity, Decreased response t... ORPHA:3455
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... ORPHA:85450
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia, Abnormality of the hairline OMIM:248450
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, Tru... ORPHA:1106
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Septate... ORPHA:261537
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Cataract, Hypospadias, Decreased response to growth hormone stimul... OMIM:613406
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Lacticaciduria ORPHA:255210
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Microphthalmia, Micropenis, C... OMIM:614083
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidn... ORPHA:2152
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia OMIM:616300
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Hypop... OMIM:601186
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Abnormality of the menstrual cycle, Cystocele, Decreased fertility, Keratoconjunctiv... ORPHA:285
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Absent eyelashes, Cryptorchidism, Microphthalmia, Pterygium OMIM:256520
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Monosomy 9P
Hypospadias, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hairline, Ambiguous ... ORPHA:261112
Fraser Syndrome 2
Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agenesis, Hypoplasia... OMIM:617666
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Retin... OMIM:234200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclear pulverulen... OMIM:612474
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Multicystic kidney dysplasia, Hypospadias, Abnormal hair patt... ORPHA:2052
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypospadias, Abnormal renal medulla morpho... OMIM:619488
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... OMIM:130050
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Microphthalmia, Mic... OMIM:617925
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cry... ORPHA:286
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Anophthalmia, Horseshoe kidney, Perineal fistula, Rectovaginal fist... ORPHA:2538
Fontaine Progeroid Syndrome
Sparse scalp hair, Small scrotum, Absent nipple, Cryptorchidism, Synophrys, Low anterior hairline... OMIM:612289
Hardikar Syndrome
Renal insufficiency, Hydroureter, Pyelonephritis, Pigmentary retinopathy, Bile duct proliferation... OMIM:301068
Holoprosencephaly 1
Microphthalmia, Micropenis, Cyclopia OMIM:236100
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Optic nerve hypoplasia, Highly arched eyebrow, Unilateral renal agen... ORPHA:508488
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the ute... ORPHA:672
Adams-Oliver Syndrome 1
Microphthalmia, Alopecia, Imperforate hymen, Supernumerary nipple OMIM:100300
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology, ... OMIM:236680
Isolated Arrhinia
Microphthalmia ORPHA:1134
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morpholo... OMIM:154500
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Limbal dermoid... OMIM:164210

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 Mab21l1

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 Mab21l1.

No publications found that use IMPC mice or data for Mab21l1.

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
Mab21l1tm400662(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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