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Gene: Stk35 MGI:1914583

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Gene Summary

Name:
serine/threonine kinase 35
Synonyms:
CLIK1,  CLP-36 interacting kinase,  1700054C12Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Stk35em1(IMPC)J HOM Early adult 2.64×10-06
abnormal vocalization Stk35em1(IMPC)J HOM   Early adult 1.50×10-05
decreased grip strength Stk35em1(IMPC)J HOM Early adult 7.25×10-05
increased vertical activity Stk35em1(IMPC)J HOM Early adult 4.58×10-05
increased circulating alanine transaminase level Stk35em1(IMPC)J HOM Early adult 2.37×10-06
hyperactivity Stk35em1(IMPC)J HOM Early adult 1.03×10-08
abnormal bone structure Stk35em1(IMPC)J HOM   Early adult 3.71×10-05

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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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Stk35 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stk35 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
WAGR 11p13 deletion syndrome
Abnormality of the male genitalia, Aniridia DECIPHER:35
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Schizophrenia 15
Hyperactivity OMIM:613950
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Wagro Syndrome
Cataract, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decreased testicular ... OMIM:612469
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Abnormal vitreous humor morpho... ORPHA:2788
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal opt... ORPHA:1101
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... ORPHA:891
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d... ORPHA:899
Aniridia 3
Aniridia, Cataract OMIM:617142
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... OMIM:221900
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Bicornuate uterus, Abnormality of the uterus, Umbilical he... ORPHA:2143
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Cryptorchidism, Neonatal death, Microphthalmia OMIM:613730
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, T... ORPHA:290
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla... ORPHA:3378
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia OMIM:613153
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia ORPHA:1466
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Nance-Horan Syndrome
Microcornea, Microphthalmia, Retinal detachment, Cataract ORPHA:627
Eales Disease
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Cryptorchidism, Developmental cataract, Micropenis OMIM:618815
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ... OMIM:275400
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Umbilical hernia, Iris coloboma, Chorioretinal coloboma OMIM:617662
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, C... OMIM:610125
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, R... OMIM:236670
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Distal Deletion 6P
Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechiae... ORPHA:96125
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocu... ORPHA:324416
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
Achondrogenesis Type 2
Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology ORPHA:93296
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... ORPHA:2969
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abn... ORPHA:370959
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia, Primary amenorrhea OMIM:616947
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Bicornuate uterus, Umbil... OMIM:222448
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Corneal opacity, Cataract ORPHA:317
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma OMIM:308100
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Mucolipidosis Iv
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Retinal de... OMIM:252650
Microphthalmia, Syndromic 8
Microcornea, Cryptorchidism, Microphthalmia OMIM:601349
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Nephroblastoma
Aniridia ORPHA:654
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... ORPHA:233
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Corneal opacity ORPHA:281090
Axenfeld-Rieger Syndrome
Hypospadias, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Abnormality of... ORPHA:782
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty ORPHA:496790
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Adrenal ... ORPHA:29072
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Winchester Syndrome
Corneal opacity OMIM:277950
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Pierson Syndrome
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size ORPHA:1867
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Congenital Glaucoma
Retinal detachment ORPHA:98976
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia OMIM:615524
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Neonatal death, Microphthalmia... ORPHA:85284
Meckel Syndrome
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Anophthalmia, P... ORPHA:564
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Morquio Syndrome C
Corneal opacity OMIM:252300
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... OMIM:615663
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Coloboma, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Pierpont Syndrome
Microcornea, Cryptorchidism, Microphthalmia ORPHA:487825
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplastic labia... OMIM:614225
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... OMIM:614643
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Myelomeningocele, Optic atrop... OMIM:305600
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Male pseudohermaphroditism, Optic disc coloboma OMIM:600092
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Chondrodysplasia-Difference Of Sex Development Syndrome
Hypoplasia of the iris, Male pseudohermaphroditism, Chorioretinal coloboma ORPHA:1422
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anterior Segment Dysgenesis 6
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... OMIM:617315
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly, Primary congenital glaucoma, Congenital hypothyroidism, Bupht... ORPHA:521445
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Smith-Magenis Syndrome
Retinal detachment, Precocious puberty, Microcornea, Delayed puberty, Hypothyroidism ORPHA:819
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalm... ORPHA:2505
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Trisomy 12P
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Supernumerary nipple ORPHA:1699
Pierpont Syndrome
Microcornea, Cryptorchidism, Micropenis, Microphthalmia OMIM:602342
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Mic... ORPHA:3301
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Zellweger Syndrome
Cataract, Hypospadias, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Cryp... ORPHA:912
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Micropenis,... OMIM:244300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
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
Short Syndrome
Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morpholo... ORPHA:3163
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, ... ORPHA:494344
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Wolfram Syndrome 1
Cataract, Diabetes mellitus, Diabetes insipidus, Optic atrophy, Pigmentary retinopathy, Hypothyro... OMIM:222300
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Keratitis, Retinal v... OMIM:308300
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Occipital encephalocele, Retinal detachment, Optic disc pal... OMIM:267750
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Optic atrophy OMIM:619833
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... ORPHA:335
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Retinal telangiectasia OMIM:158900
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... OMIM:107320
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Stickler Syndrome, Type I
Retinal detachment, Cataract, Vitreoretinopathy, Membranous vitreous appearance, Retinal hole OMIM:108300
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Supernumerary n... ORPHA:464
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy OMIM:617255
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Spondyloocular Syndrome
Retinal detachment, Posterior subcapsular cataract, Cataract, Unilateral cryptorchidism OMIM:605822
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Sialidosis Type 2
Umbilical hernia, Corneal opacity, Abnormal macular morphology ORPHA:87876
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Orbital encephalocele, Anophthalmia OMIM:164180
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... ORPHA:90354
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Short Syndrome
Rieger anomaly, Cataract, Insulin-resistant diabetes mellitus, Ovarian cyst, Astigmatism, Megaloc... OMIM:269880
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Micropenis OMIM:607143
Kniest Dysplasia
Retinal detachment, Umbilical hernia, Cataract OMIM:156550
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Choroideremia, Aplasia/Hypoplasia aff... ORPHA:2719
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Coloboma, Microphthalmia, Peters anomaly OMIM:618652
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2328
Musculocontractural Ehlers-Danlos Syndrome
Retinal detachment, Cryptorchidism, Astigmatism ORPHA:2953
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Corneal opacity, Cryptorchidism, Posterior pi... ORPHA:464311
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Gms Syndrome
Rieger anomaly ORPHA:2090
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Cataract, Degenerative vitreoretinopathy ORPHA:1427
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... OMIM:300166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, ... ORPHA:568
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Congenital... ORPHA:2323
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ect... OMIM:615877
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Blue irides, Aplasia of the vagina, Hypoplastic iris stroma, Hete... OMIM:193500
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Marshall Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Vitreoretinopathy ORPHA:560
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Retinal detachment OMIM:182290
Knobloch Syndrome
Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Abnormal vitreous humor mo... ORPHA:1571
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Anti-Glomerular Basement Membrane Disease
Retinal detachment ORPHA:375
Baraitser-Winter Syndrome 1
Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma OMIM:243310
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Pseudoexfoliation, Pigment de... OMIM:177650
Aicardi Syndrome
Retinal detachment, Cataract, Spina bifida, Precocious puberty, Chorioretinal lacunae, Optic disc... OMIM:304050
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy OMIM:274270
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis OMIM:614230
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Rod-cone dystr... OMIM:223370
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Primary hypothyroidism OMIM:249310
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Umbilical hernia, ... OMIM:601499
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Cataract, Hypospadias, Spina bifida, Abnormal pre... ORPHA:84
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Displacement of the urethral meatus, Hypothyroidism, Leukocoria ORPHA:1556
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... OMIM:169550
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... OMIM:309801
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe OMIM:109120
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... OMIM:214110
Oculocerebrocutaneous Syndrome
Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Stiff Skin Syndrome
Retinal detachment, Type II diabetes mellitus ORPHA:2833
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... OMIM:261600
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract OMIM:616395
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... OMIM:206900
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... ORPHA:2526
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism, Cataract OMIM:214150
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Cherry red spot of the macula, Optic atrophy,... ORPHA:93400
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Astigmatism, Micropenis OMIM:301056
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal optic chiasm morphology, Retinal detachment, Cataract, Hypospadias, Decreased response t... ORPHA:268261
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Cockayne Syndrome B
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Pigme... OMIM:133540
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Marshall Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Lens luxation OMIM:154780
Bartsocas-Papas Syndrome
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia ORPHA:1234
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Hypopigmentation of t... OMIM:611584
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Megalocornea ORPHA:2409
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Alpha-Mannosidosis
Cataract, Corneal opacity, Type II diabetes mellitus ORPHA:61
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Abnorma... ORPHA:3412
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... ORPHA:2556
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Penoscrotal hypospadias OMIM:248340
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Umbilical hern... OMIM:614170
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Sialidosis Type 1
Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity ORPHA:812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... ORPHA:91500
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Spina bifida, Cryptorchidism, Abnormality of the uterus, Ab... ORPHA:99776
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy ORPHA:394
Focal Dermal Hypoplasia
Corneal opacity, Spina bifida, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Mi... ORPHA:2092
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment OMIM:609616
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Retinal detachment, Cryptorchidism, Microcornea, Astigmatism, Umbilical hernia, Abnormal anterior... OMIM:601776
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Optic atrophy ORPHA:1528
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Coloboma, Cataract, Optic atrophy OMIM:612379
Cystinosis
Corneal opacity, Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Type I diabetes... ORPHA:213
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia ORPHA:228390
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Supernumerary nipple, Cryptorchidism, Hypoplasia of the iris, Anterior pol... OMIM:619194
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Marfan Syndrome
Retinal detachment, Flat cornea, Lens luxation, Ectopia lentis, Meningocele, Increased axial leng... ORPHA:558
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Knobloch Syndrome 2
Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Vitreoretinopathy OMIM:618458
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Cherry red spot of the macula, Optic atrophy, Umbilical hernia ORPHA:93399
Frontonasal Dysplasia 1
Cataract, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphthalmia OMIM:136760
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Frontofacionasal Dysplasia
Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo... ORPHA:1791
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Microcornea, Umbilical hernia, Retinal detachment ORPHA:1900
Joubert Syndrome 37
Microphthalmia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Umbilical hernia ORPHA:3218
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Alg12-Cdg
Retinal detachment, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Mi... ORPHA:79324
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Corneal dystrophy, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Hypoplas... ORPHA:495875
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... ORPHA:2399
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Ambiguous genitalia, Microphthalmia OMIM:613885
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... OMIM:147791
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Spina bifida, Cryptorchidism, Anencephaly, Microco... ORPHA:3380
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Retinal ... OMIM:243605
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:585
Hydrolethalus
Anophthalmia, Cryptorchidism, Anencephaly, Abnormal fallopian tube morphology, Microphthalmia ORPHA:2189
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Unilateral microphthalmos, Hypospadias, Iris coloboma OMIM:618874
Fryns Syndrome
Hypospadias, Corneal opacity, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Joubert Syndrome 22
Microphthalmia, Coloboma, Retinal dysplasia OMIM:615665
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity ORPHA:309288
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, Hyperaut... OMIM:209900
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous... ORPHA:2839
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia OMIM:617306
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism, Chorioretinal coloboma OMIM:619135
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Dela... ORPHA:193
Insulin-Like Growth Factor I, Resistance To
Increased circulating insulin-like growth factor 1 concentration, Rieger anomaly, Diabetes mellitus OMIM:270450
Mosaic Trisomy 8
Cryptorchidism, Corneal opacity, Decreased testicular size ORPHA:96061
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Coloboma, Corneal opacity OMIM:163200
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Refsum Disease
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:773
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,... ORPHA:354
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... OMIM:212720
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... OMIM:157640
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Phace Association
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Congenital hypothyroidism, Increas... OMIM:606519
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Marfan Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... OMIM:154700
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris ORPHA:169090
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Frontorhiny
Encephalocele, Cataract, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypopitui... ORPHA:391474
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ... ORPHA:93325
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Retinal vascular m... ORPHA:42775
De Barsy Syndrome
Cataract, Corneal opacity, Cryptorchidism, Umbilical hernia, Abnormal fundus fluorescein angiography ORPHA:2962
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Umb... OMIM:613884
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Proboscis Lateralis
Cataract, Corneal opacity, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Opt... ORPHA:141099
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Cervical myelopathy, Vitreoretinopathy OMIM:183900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Retinal detachment, Keratoconus OMIM:225400
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... OMIM:609053
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy OMIM:616449
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Ocular anterior segment dysgenesis, Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism, Cataract, Iris coloboma ORPHA:250989
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Optic nerve hypoplasia, Vaginal atresia OMIM:617914
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... ORPHA:636
Carpenter Syndrome 1
External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic atrophy, Microcornea, Opac... OMIM:201000
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis ORPHA:1764
Seckel Syndrome 10
Retinal detachment, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia OMIM:601675
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the ovary, Micropenis, De... OMIM:619321
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Fish-Eye Disease
Corneal opacity ORPHA:79292
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia OMIM:127000
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Hallermann-Streiff Syndrome
Cataract, Spina bifida, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalm... OMIM:234100
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Optic disc coloboma, Coloboma, Microphthalmia, Abnormality of the hypothalamus-pi... ORPHA:251014
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Corneal opacity, Cryptorchidism, A... ORPHA:464306
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Steinfeld Syndrome
Microphthalmia, Absent gallbladder, Retinal coloboma, Iris coloboma OMIM:184705
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Adrenal hypoplasia, Brushfield spots, Cryptorchidism, P... OMIM:214100
Farber Disease
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... ORPHA:333
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation test, Cryptorc... ORPHA:488632
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Um... OMIM:612582
Williams Syndrome
Hypoplasia of penis, Flat cornea, Hypogonadotropic hypogonadism, Cataract, Corneal opacity, Poste... ORPHA:904
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Posterior subc... ORPHA:536471
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism, Small scrotum ORPHA:2728
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, A... ORPHA:861
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Anophthalmia, Cyclopia, Diabetes insipidus, Diabetes mellitus... ORPHA:2162
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... OMIM:268400
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism OMIM:252600
Hurler Syndrome
Umbilical hernia, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:607014
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Lcat Deficiency
Corneal opacity ORPHA:650
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Corneal opacity ORPHA:570
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Optic nerve dysplasia, Anencephaly, Retinal dysplasia, Opacification of ... OMIM:615287
Monosomy 9Q22.3
Ovarian fibroma, Cataract, Umbilical hernia, Microphthalmia, Retinopathy ORPHA:77301
Cysticercosis
Retinal detachment, Iridocyclitis, Chorioretinitis, Abnormal optic chiasm morphology ORPHA:1560
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Myelomeningocele, Bila... OMIM:219000
Cockayne Syndrome
Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Cryptorchidi... ORPHA:191
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Stickler Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Uveitis, Astigm... ORPHA:828
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment ORPHA:94068
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Wilson Disease
Kayser-Fleischer ring, Abnormality of the menstrual cycle ORPHA:905
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism ORPHA:1052
Pseudotrisomy 13 Syndrome
Encephalocele, Cyclopia, Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, M... OMIM:264480
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Hypermyelinated ... OMIM:601812
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Optic atrophy, Hypogonadism, Op... ORPHA:910
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Fucosidosis
Hypothyroidism, Corneal opacity ORPHA:349
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Pi... OMIM:614866
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal... ORPHA:534
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Peters Plus Syndrome
Cataract, Hypospadias, Corneal opacity, Cryptorchidism, Optic atrophy, Congenital hypothyroidism,... ORPHA:709
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea, Thyroid C cell hyperplasia OMIM:300952
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degenerati... ORPHA:33364
Hurler-Scheie Syndrome
Umbilical hernia, Corneal opacity OMIM:607015
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment ORPHA:93284
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Spina bifida, Ovarian carcinoma, Microphthalmia, Iris coloboma OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Peters anomaly, Buphthalmos, Persistent pupillary membrane, Microphthalmia OMIM:613150
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
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Conjunctival hyperemia OMIM:167730
Joubert Syndrome 2
Encephalocele, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Hypoplastic male e... OMIM:608091
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy ORPHA:85410
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... OMIM:263650
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract, Hypospadias ORPHA:65286
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Zygomycosis
Retinal arterial occlusion, Retinal detachment, Chemosis, Diabetes mellitus ORPHA:73263
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Scheie Syndrome
Corneal opacity ORPHA:93474
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Astigmatism, Elevated circulating thyroid-stimulating hormone concentra... OMIM:242900
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Ectopia pupillae, Aplasia of the... OMIM:194190
Larsen Syndrome
Cryptorchidism, Spina bifida occulta, Corneal opacity OMIM:150250
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion, Umbilical hernia, Ambiguous genitalia, Abn... ORPHA:920
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Retinal dystrophy, Adrenal hypopl... OMIM:607932
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Opacification of the corneal stroma OMIM:601853
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Encephalocele, Hypospadias, Cryptorchidism, Penoscrotal transposition, Anencephaly... OMIM:619148
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Cranial hyperostosis, Imbalanced hemoglobin sy... ORPHA:330015
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Spina bifida occulta, Iris col... OMIM:607323
Cousin Syndrome
Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Hydranencephaly, Microphthalmia OMIM:260660
Mucopolysaccharidosis Type 1
Retinopathy, Optic atrophy, Corneal opacity ORPHA:579
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma OMIM:256540
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... ORPHA:959
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous ge... ORPHA:2166
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Abnormality of thyroid physiology ORPHA:1830
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma OMIM:614583
Hartsfield Syndrome
Encephalocele, Microphthalmia ORPHA:2117
Mucopolysaccharidosis Type 7
Umbilical hernia, Corneal opacity ORPHA:584
Hallermann-Streiff Syndrome
Cryptorchidism, Uveitis, Developmental cataract, Microphthalmia, Hypothyroidism ORPHA:2108
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... ORPHA:581
Joubert Syndrome 14
Encephalocele, Morning glory anomaly, Meningocele, Optic atrophy, Coloboma, Microphthalmia OMIM:614424
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced b... OMIM:617052
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism OMIM:227650
Mend Syndrome
Microphthalmia, Cryptorchidism, Cataract ORPHA:401973
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... ORPHA:464738
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Cockayne Syndrome A
Cataract, Retinal atrophy, Cryptorchidism, Retinal pigment epithelial mottling, Irregular menstru... OMIM:216400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma ORPHA:1692
Wolf-Hirschhorn Syndrome
Hypospadias, Sclerocornea, Cryptorchidism, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma ORPHA:280
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Coloboma, Micropht... OMIM:147250
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Microphthalmia, Bile duct proliferation OMIM:611561
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Microphthalmia, Adrenal gl... OMIM:273395
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia OMIM:603194
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Astigmatism, Sclerocornea ORPHA:2095
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbi... OMIM:229850
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... ORPHA:857
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Encephalocele OMIM:613451
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed puberty, Opti... ORPHA:138
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Optic atrophy, Coloboma, Peters anomaly, Microphthalmia, Annular pan... OMIM:616975
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Absent nipple, Aplasia of the thymus, Optic disc coloboma, Congenital hypothyroid... OMIM:620186
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy OMIM:201180
Cockayne Syndrome Type 3
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microcornea,... ORPHA:90324
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Optic atrophy, Ambiguou... ORPHA:818
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia OMIM:611134
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity, Azoospermia, Delayed puberty, Cholelithiasis ORPHA:2072
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test OMIM:603467
Lathosterolosis
Hypoplasia of penis, Cataract, Meningocele, Microcornea, Opacification of the corneal stroma ORPHA:46059
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia OMIM:616734
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Spina bifida, Coloboma, Abnormal optic disc morphology, Reti... ORPHA:508498
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, Long penis, Fronta... OMIM:268300
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy, Delayed... ORPHA:324
Hurler Syndrome
Retinopathy, Corneal opacity ORPHA:93473
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Neu-Laxova Syndrome 1
Cataract, Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Small pla... OMIM:256520
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Cataract ORPHA:974
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Cataract, Corneal opacity, Astigmatism, Umbilical hernia ORPHA:309282
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Spina bifida, Retinal arteriolar tort... ORPHA:567
Acromelic Frontonasal Dysostosis
Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, H... OMIM:603671
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Large p... OMIM:249000
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cryptorchidism, Cataract, Hypothyroidism OMIM:620005
Monosomy 18P
Microphthalmia, Hypothyroidism ORPHA:1598
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Stillbirth, Ambiguous genitalia, Microphthalmia OMIM:616300
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Pseudo-Torch Syndrome 1
Umbilical hernia, Cataract, Opacification of the corneal stroma OMIM:251290
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Corneal opacity OMIM:253220
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:580
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Encephalocraniocutaneous Lipomatosis
Retinopathy, Corneal opacity, Iris coloboma ORPHA:2396
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... OMIM:601186
Oculoectodermal Syndrome
Supernumerary nipple, Chorioretinal atrophy, Pineal cyst, Microcornea, Astigmatism, Opacification... OMIM:600268
Cat Eye Syndrome
Microphthalmia, Umbilical hernia, Iris coloboma, Chorioretinal coloboma OMIM:115470
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217085
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Spina bifida, Pancreatic cysts, Aplasia of the uterus OMIM:274000
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217093
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Frontofacionasal Dysplasia
Cataract, Microcornea, Cranium bifidum occultum, Microphthalmia, Iris coloboma OMIM:229400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Renpenning Syndrome 1
Cataract, Hypospadias, Phimosis, Coloboma, Microphthalmia, Decreased testicular size OMIM:309500
Meckel Syndrome 14
Ambiguous genitalia, Occipital encephalocele, Microphthalmia, Aplasia of the uterus OMIM:619879
Chime Syndrome
Corneal opacity, Retinal coloboma ORPHA:3474
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis ORPHA:2273
Monosomy 13Q14
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma ORPHA:1587
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Branchiooculofacial Syndrome
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Cryptorchidism, Branchial anomaly, Ret... OMIM:113620
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:3455
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat... ORPHA:637
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Myelomeningocele, Anencephaly, Short umbilical cord... ORPHA:2369
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... ORPHA:3472
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Microphthalm... OMIM:157170
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis, Phimosis ORPHA:2908
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... OMIM:609945
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os... OMIM:260400
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Cryptorchidism, Mye... ORPHA:2052
Gaucher Disease
Corneal opacity, Delayed puberty, Cherry red spot of the macula, Retinopathy, Abnormal macular mo... ORPHA:355
Mucopolysaccharidosis, Type Vi
Umbilical hernia, Cervical myelopathy, Corneal opacity OMIM:253200
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Myhre Syndrome
Microphthalmia, Cryptorchidism, Cataract OMIM:139210
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia ORPHA:1106
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder, Cyclopia, Iris coloboma ORPHA:3186
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Lathosterolosis
Cataract, Bilobate gallbladder, Myelomeningocele, Ambiguous genitalia, male, Opacification of the... OMIM:607330
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... ORPHA:468631
Digeorge Syndrome
Parathyroid agenesis, Sclerocornea, Decreased circulating parathyroid hormone level, Parathyroid ... OMIM:188400
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract, Uveitis OMIM:164200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Microphthalmia, Micropenis OMIM:617925
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body colobom... OMIM:309800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Abnormality of thyroid physiology, Corneal cr... ORPHA:411629
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Opacification of the corneal stroma OMIM:253000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Abnormal hemoglobin, Anemia ORPHA:847
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity OMIM:615273
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Retinal pigment epithelial mottling, Pigmentary retinopathy,... OMIM:219800
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Monosomy 9P
Ambiguous genitalia, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:261112
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Holoprosencephaly 7
Occipital meningocele, Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma OMIM:610828
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea OMIM:619869
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Witteveen-Kolk Syndrome
Branchial fistula, Cataract, Hypospadias, Decreased response to growth hormone stimulation test, ... OMIM:613406
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Female hypogonadism, Decreased serum leptin, Hypoplastic male external genitalia... ORPHA:740
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Micropenis, Central hypothyroidism, Neural tube defect, Umbilical hern... ORPHA:798
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... OMIM:301040
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Hereditary Acrokeratotic Poikiloderma
Keratoconjunctivitis, Opacification of the corneal stroma, Abnormal preputium morphology ORPHA:2907
Tangier Disease
Corneal opacity ORPHA:31150
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Ocular Cystinosis
Corneal crystals ORPHA:411641
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Viss Syndrome
Retinal detachment, Umbilical hernia, Hypothyroidism OMIM:619472
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Wilson Disease
Hypoparathyroidism, Kayser-Fleischer ring OMIM:277900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Abnormal pupi... ORPHA:261552
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Cataract ORPHA:306542
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Neon... OMIM:612289
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, ... ORPHA:261537
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Keratitis, Cryptorchidism, Recurrent corneal erosions, Opacification of the corneal ... OMIM:308205
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia OMIM:251230
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, ... ORPHA:2152
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Microphthalmia, Abn... OMIM:236680
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Osteogenesis Imperfecta
Umbilical hernia, Corneal opacity ORPHA:666
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Mucolipidosis Ii Alpha/Beta
Myelopathy, Umbilical hernia, Megalocornea, Opacification of the corneal stroma OMIM:252500
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Degcags Syndrome
Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia OMIM:619488
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Holoprosencephaly 1
Cyclopia, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus OMIM:236100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, Hypoplastic nipples, Micropenis OMIM:216340
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Optic nerve hypoplasia, Bilateral microphthalmos, Re... ORPHA:508488
Isolated Arrhinia
Microphthalmia ORPHA:1134
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Branchial anomaly, Limbal dermoid, Microphthalmia 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 Stk35

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 Stk35.

No publications found that use IMPC mice or data for Stk35.

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MGI Allele Allele Type Produced
Stk35tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Stk35em1(IMPC)J Exon Deletion Mice
Stk35tm445988(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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