Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alkylglycerone phosphate synthase
Synonyms:
ADAPS,  9930035G10Rik,  bs2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Agps mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
OMIM:600121

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Hypogonadism, Microcornea, Microphthalmia ORPHA:2528
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, External genital hypoplasia, Cataract, Microphthalmia, Hypogonadism ORPHA:363741
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism, Cataract, Elevated circulating follicle stimulating... OMIM:240950
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Cataract, Microphthalmia OMIM:601794
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Nathalie Syndrome
Cataract ORPHA:2663
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism, Developmental cataract ORPHA:1383
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Type II diabe... OMIM:615703
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
X-Linked Retinoschisis
Cataract ORPHA:792
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Trichomegaly
Cataract OMIM:190330
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anomaly OMIM:609218
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Cataract, Delayed puberty, Decreased testicular size... ORPHA:280679
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens ORPHA:1381
Galactosemia Iv
Cataract OMIM:618881
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Dysequilibrium Syndrome
Cataract ORPHA:1766
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Bilateral microphthalmos, Anophthalmia OMIM:611638
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Microphthalmia OMIM:212550
Galactosemia Ii
Cataract OMIM:230200
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
49,Xyyyy Syndrome
Developmental cataract, Male hypogonadism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:99330
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Cataract, Decreased testicular size, Decreased respo... OMIM:300845
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Cofs Syndrome
Cataract, Hypogonadism, Microphthalmia ORPHA:1466
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Microphthalmia ORPHA:1473
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Microphthalmia OMIM:601349
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Microphthalmia OMIM:610023
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia, Hypospadias,... OMIM:615877
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:48431
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Microphthalmia, Mi... OMIM:610125
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia,... ORPHA:139471
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death OMIM:273680
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Displacement of th... ORPHA:893
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe OMIM:227320
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Warburg Micro Syndrome 1
Cryptorchidism, Developmental cataract, External genital hypoplasia, Microcornea, Microphthalmia OMIM:600118
Nanophthalmos 4
Microphthalmia OMIM:615972
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Young Syndrome
Azoospermia OMIM:279000
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Scrotal hypoplasia, Cataract, Microphthalmia, Micropenis OMIM:610756
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Nathalie Syndrome
Cataract OMIM:255990
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Hypogonadism OMIM:268050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Cataract, S... ORPHA:3085
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia OMIM:615524
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Warburg Micro Syndrome 2
Cryptorchidism, Developmental cataract, Scrotal hypoplasia, Hypoplastic labia majora, Cataract, M... OMIM:614225
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract OMIM:613730
Retinitis Pigmentosa
Keratoconus, Hyperinsulinemia, Abnormal testis morphology, Cataract, Type II diabetes mellitus, H... ORPHA:791
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Cataract, Microphthalmia ORPHA:93267
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, C... ORPHA:320391
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Hemochromatosis, Type 4
Cataract, Impotence OMIM:606069
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Iris coloboma, Microphthalmia, Posterior lenticonus ORPHA:231736
Warburg Micro Syndrome 3
Developmental cataract, Shallow anterior chamber, Scrotal hypoplasia, Cataract, Hypoplastic labia... OMIM:614222
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Cataract, External genital hypoplasia OMIM:612947
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Myotonic Dystrophy 1
Cataract, Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Pierpont Syndrome
Cryptorchidism, Microcornea, Microphthalmia ORPHA:487825
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Bresek Syndrome
Cryptorchidism, Iris coloboma, Neonatal death, Optic nerve hypoplasia, Microphthalmia, Decreased ... ORPHA:85284
Cataract 47
Cataract, Microcornea OMIM:612018
Laurence-Moon Syndrome
Cryptorchidism, Iris coloboma, Cataract, Type II diabetes mellitus, Hypoplasia of penis, Displace... ORPHA:2377
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency ORPHA:3156
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Pierpont Syndrome
Cryptorchidism, Microcornea, Micropenis, Microphthalmia OMIM:602342
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Trichothiodystrophy 3, Photosensitive
Cataract, Decreased fertility OMIM:616395
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Iris coloboma, Microphthalmia, Sclerocornea, Hypoplasia of penis, H... ORPHA:77298
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Iris coloboma, Microcornea, Hypoplasia of penis, Hypogonadotropic hy... ORPHA:251066
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Cataract, Uterine leiomyoma, Vaginal neoplasm ORPHA:523
Warburg Micro Syndrome 4
Cryptorchidism, Developmental cataract, Scrotal hypoplasia, Microcornea, Microphthalmia, Decrease... OMIM:615663
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity... ORPHA:137902
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Cataract, Ambiguous genitalia, Hypoplasia of penis ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Aniridia 2
Aniridia, Cataract OMIM:617141
Retinitis Pigmentosa 84
Cataract OMIM:618220
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia OMIM:613153
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Type I diabetes mellitus, Microphthalmia ORPHA:290
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Alg8-Cdg
Cataract ORPHA:79325
Congenital Fibrinogen Deficiency
Developmental cataract, Hemorrhagic ovarian cyst, Microphthalmia, Decreased testicular size, Micr... ORPHA:335
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity, Abnormal testis morphology ORPHA:317
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Pellagra-Like Syndrome
Cataract OMIM:260650
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Nuclear cataract, Catarac... ORPHA:79237
Retinitis Pigmentosa 4
Cataract OMIM:613731
Cat-Eye Syndrome
Iris coloboma, Microphthalmia ORPHA:195
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Iris coloboma, External genital hypoplasia, Cataract, Microphthalmia, Anophthalmi... ORPHA:2250
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Proximal Myotonic Myopathy
Cataract ORPHA:606
Leber Congenital Amaurosis 16
Cataract OMIM:614186
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Microphthalmia OMIM:618652
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Microphthalmia, Astigmatism, Myopic astigmatism OMIM:152950
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Retinitis Pigmentosa 37
Cataract OMIM:611131
Nanophthalmos
Microphthalmia ORPHA:35612
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Scrotal hypoplasia, Microcornea, Microphthalmia, Hypo... ORPHA:2505
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Isosexual precocious puberty, Microphthalmia ORPHA:2788
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Aplasia/Hypoplasia of the iris,... ORPHA:3378
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Iris coloboma, Cataract, Vaginal atresia, Septo-optic dysplasia, Microphthalmia, ... ORPHA:3301
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia ORPHA:3173
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Oculocerebrocutaneous Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:164180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Cataract ORPHA:1387
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
H Syndrome
Azoospermia, Amenorrhea, Hypertriglyceridemia, Delayed puberty, Decreased testicular size, Hypogo... ORPHA:168569
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:615145
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Cataract OMIM:618958
Retinitis Pigmentosa 2
Cataract OMIM:312600
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Retinitis Pigmentosa 9
Cataract OMIM:180104
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Hypoparathyroidism, Familial Isolated, 1
Cataract, Decreased circulating parathyroid hormone level, Hypoparathyroidism OMIM:146200
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Kapur-Toriello Syndrome
Cryptorchidism, Iris coloboma, Hypoplastic labia majora, Cataract, Microphthalmia, Micropenis OMIM:244300
Micro Syndrome
Cryptorchidism, Clitoral hypoplasia, Cataract, Hypoplastic labia minora, Delayed puberty, Microco... ORPHA:2510
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Xeroderma Pigmentosum, Complementation Group B
Cataract, Hypogonadism, Microphthalmia OMIM:610651
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Microphthalmia, Limbal dermoid ORPHA:1791
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Iris hypopigmentation, Corneal opacity, Cataract, Microphthalmia, Sclerocornea, H... ORPHA:284160
Temtamy Syndrome
Iris coloboma, Microphthalmia ORPHA:1777
Werner Syndrome
Cataract, Hypogonadism, Diabetes mellitus OMIM:277700
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Scrotal hypoplasia, Cataract, Hypoplasia of penis, Decreased testicular size, Hyp... ORPHA:127
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Scrotal hypoplasia, Microcornea, Microphthalmia, Hypospadias OMIM:616734
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Iris coloboma, Cataract, Micr... OMIM:309801
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
Walker-Warburg Syndrome
Cryptorchidism, Iris coloboma, Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalm... ORPHA:899
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Otodental Syndrome
Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Galactosemia
Cryptorchidism, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary amenorrhea,... ORPHA:352
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Iris coloboma, Peters anomaly, Microphthalmia, Hypospadias, Astigmatism ORPHA:494344
Galactosemia I
Hypergonadotropic hypogonadism, Cataract, Premature ovarian insufficiency OMIM:230400
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Optic nerve aplasia, Microphthalmia, Peters anomaly OMIM:120200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Delayed puberty OMIM:615704
Nance-Horan Syndrome
Developmental cataract, Microcornea, Microphthalmia, Posterior Y-sutural cataract OMIM:302350
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber m... OMIM:613001
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Cataract, Iris coloboma ORPHA:377
Martsolf Syndrome 1
Cryptorchidism, Developmental cataract, Microphthalmia, Hypogonadotropic hypogonadism, Micropenis OMIM:212720
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Cataract, Testicular atrophy, Secondary ameno... OMIM:157640
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Mend Syndrome
Cryptorchidism, Cataract OMIM:300960
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract, Microphthalmia OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, Cataract, Microphthalmia, Hypogonad... OMIM:603457
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Corneal opacity, Cataract, Delayed puberty, Optic nerve hypoplasia ORPHA:496790
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Microphthalmia, Iris coloboma OMIM:243310
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy ORPHA:1839
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corneal neovascu... OMIM:278730
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Premature ovarian in... OMIM:609286
Triploidy
Cryptorchidism, Ambiguous genitalia, Iris coloboma, Cataract, Hypoplasia of penis, Hypospadias, A... ORPHA:3376
Kapur-Toriello Syndrome
Hypoplastic labia majora, Iris coloboma, Microphthalmia, Hypoplasia of penis ORPHA:2328
Achromatopsia 3
Cataract OMIM:262300
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus OMIM:210900
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Hypogonadism, Scrotal hypoplasia, Microphthalmia ORPHA:228390
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Cataract OMIM:612463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Trichothiodystrophy 1, Photosensitive
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Hypogonadism OMIM:601675
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Astigmatism OMIM:615986
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria OMIM:263100
Stromme Syndrome
Stillbirth, Iris coloboma, Cataract, Peters anomaly, Optic nerve hypoplasia, Microphthalmia, Micr... OMIM:243605
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Papillorenal Syndrome
Lens luxation, Cataract, Microphthalmia OMIM:120330
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypop... OMIM:106210
Familial Isolated Hypoparathyroidism
Cataract, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos OMIM:619318
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Cataract, Elevated circulating parathyroid hormone leve... OMIM:612462
Cataract 43
Subcapsular cataract OMIM:616279
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Primary adrenal insufficiency... OMIM:240300
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of th... ORPHA:2470
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Pancreatic cysts, Aplasia/Hypoplasia of th... ORPHA:564
Frontorhiny
Iris coloboma, Hypopituitarism, Cataract, Microphthalmia, Diabetes insipidus ORPHA:391474
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spondyloepiphyseal Dysplasia, Nishimura Type
Cataract, Microphthalmia ORPHA:163649
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Bifid scrotum, Hypothyroidism, Cataract, Hypoplasia of penis ORPHA:85321
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Oculopalatocerebral Syndrome
Leukocoria, Microphthalmia OMIM:257910
Microphthalmia, Lenz Type
Cryptorchidism, Iris coloboma, Cataract, Microcornea, Microphthalmia, Hypospadias ORPHA:568
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Microphthalmia, Syndromic 3
Cryptorchidism, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microphthalmia, Anophthalm... OMIM:206900
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Moebius Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis, Microphthalmia OMIM:157900
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Type I diabetes mellitus, Mic... OMIM:602782
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Premature Aging Syndrome, Okamoto Type
Cataract, Diabetes mellitus OMIM:601811
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Cryptorchidism, Corneal opacity, Cataract, Megalocornea, Peters anomaly, Optic nerve... OMIM:236670
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Microphthalmia, Astigmatism, Decreased response to growth... OMIM:609053
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Cataract, Elevated circulating parathyroid hormone leve... OMIM:103580
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Gracile Bone Dysplasia
Aniridia, Micropenis, Microphthalmia OMIM:602361
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Harrod Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:2115
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Cataract, Vaginal ... OMIM:273395
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Microphthalmia, Absent anterior chamber of the eye, Phthisis bulbi OMIM:259770
Phace Association
Developmental cataract, Congenital hypothyroidism, Optic nerve hypoplasia, Microphthalmia, Lingua... OMIM:606519
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Microphthalmia OMIM:618571
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Anophthalmia ORPHA:2189
3Q29 Microdeletion Syndrome
Hypospadias, Cataract, Microphthalmia ORPHA:65286
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Cryptorchidism, Hypercholesterolemia, Azoospermia, Lentiglobus, Abnormal calcium-pho... ORPHA:534
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Cataract, Thyroid adenoma, H... OMIM:615109
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Cataract, Microcornea, Microphthalmia, Hypogonadism, Zonular cataract, Annular pa... OMIM:268400
Cushing Disease
Infertility, Cataract, Menorrhagia, Metrorrhagia, Diabetes mellitus, Adrenal hyperplasia, Prematu... ORPHA:96253
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Astigmatism, Cataract, Vaginal atresia,... OMIM:209900
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Hypoplastic nipples, Cataract, Labial hypoplasia, Opacification of the corneal stroma OMIM:211370
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Cataract, Thyroid adenoma, H... OMIM:615108
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea, Microphthalmia OMIM:257850
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Jacobsen Syndrome
Cryptorchidism, Iris coloboma, Macular hypoplasia, Clitoral hypoplasia, Microcornea, Microphthalm... OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly, Microphthalmia OMIM:613150
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Spondyloocular Syndrome
Cataract, Unilateral cryptorchidism OMIM:605822
Vacterl With Hydrocephalus
Cryptorchidism, Microcornea, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microcornea, Microphthalmia OMIM:156610
Mosaic Trisomy 9
Cryptorchidism, Abnormality of the uterus, Hypoplastic female external genitalia, Corneal opacity... ORPHA:99776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Cousin Syndrome
Microcornea, Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia OMIM:260660
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology, Abnormal cornea morphology OMIM:244400
Phace Syndrome
Heterochromia iridis, Hypothyroidism, Iris coloboma, Lens coloboma, Cataract, Ectopic thyroid, Op... ORPHA:42775
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Iris hypopigmentation, Corneal opacity, Ocular albinism, Cataract, Aplasia/Hypopl... ORPHA:2719
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypoparathyroidism OMIM:247410
Autoimmune Polyendocrine Syndrome, Type Ii
Primary adrenal insufficiency, Hypothyroidism, Steatorrhea, Cataract, Band keratopathy, Type II d... OMIM:269200
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Microphthalmia ORPHA:2714
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Scrotal hypoplasia, Microphthalmia ORPHA:2728
Hallermann-Streiff Syndrome
Cryptorchidism, Cataract, Iris coloboma, Microphthalmia OMIM:234100
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Abnormality of the parathyroid gland, Cataract, Thymus ... ORPHA:2969
Incontinentia Pigmenti
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Cataract, Keratitis, Microphthalmia, Hypo... OMIM:308300
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypoparathyroidism, Hypothyroidism ORPHA:1563
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm OMIM:617883
Trisomy 18
Abnormal morphology of female internal genitalia, Cryptorchidism, Iris coloboma, Cataract, Microc... ORPHA:3380
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Fryns Syndrome
Cryptorchidism, Corneal opacity, Bicornuate uterus, Microphthalmia, Hypospadias ORPHA:2059
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Male pseudohermaphroditism OMIM:600122
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Marden-Walker Syndrome
Cryptorchidism, Micropenis, Microphthalmia, Hypospadias OMIM:248700
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia OMIM:227650