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Gene: Agps MGI:2443065

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility OMIM:300719
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia ORPHA:363741
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Nathalie Syndrome
Cataract ORPHA:2663
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
X-Linked Retinoschisis
Cataract ORPHA:792
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Cataract, Cryptorchidism OMIM:613730
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Trichomegaly
Cataract OMIM:190330
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism ORPHA:1381
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Abnormality of... ORPHA:139471
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Cofs Syndrome
Microphthalmia, Cataract, Hypogonadism ORPHA:1466
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia OMIM:615524
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Nathalie Syndrome
Cataract OMIM:255990
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract OMIM:273680
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract OMIM:619420
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea,... ORPHA:3085
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism ORPHA:487825
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Neonatal death, Microphthalmia, Iris coloboma, Decreased ... ORPHA:85284
Morm Syndrome
Micropenis, Cataract ORPHA:75858
Wilson-Turner Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism ORPHA:3459
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Type II diabetes mellitus, Displacement of the ure... ORPHA:2377
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Retinitis Pigmentosa
Keratoconus, Hypoplasia of penis, Cataract, Hyperinsulinemia, Hypogonadism, Type II diabetes mell... ORPHA:791
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular si... ORPHA:320391
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Pierpont Syndrome
Microcornea, Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... OMIM:615663
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Hypoplastic labia m... OMIM:614225
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Retinitis Pigmentosa 40
Cataract OMIM:613801
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... ORPHA:335
Cataract 47
Microcornea, Cataract OMIM:612018
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Peters anomaly OMIM:618652
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Warburg Micro Syndrome 3
Cataract, Small scrotum, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a... OMIM:614222
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Cataract ORPHA:2772
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity, Abnormal testis morphology ORPHA:317
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size ORPHA:1867
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency ORPHA:3156
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Developmental cataract OMIM:613155
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Vaginal atresia, Microphthalmia, Ir... ORPHA:3301
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract OMIM:616395
Nanophthalmos
Microphthalmia ORPHA:35612
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... ORPHA:79239
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Cat-Eye Syndrome
Microphthalmia, Iris coloboma ORPHA:195
Congenital Rubella Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia ORPHA:290
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Pellagra-Like Syndrome
Cataract OMIM:260650
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Aniridia 3
Aniridia, Cataract OMIM:617142
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Cataract, Premature ovarian insufficiency ORPHA:101006
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Trisomy 13
Anophthalmia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia o... ORPHA:3378
Proximal Myotonic Myopathy
Cataract ORPHA:606
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... OMIM:221900
Cataract 48
Cataract OMIM:618415
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract, Cryptorchidism OMIM:214150
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia OMIM:152950
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Micro Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity OMIM:613153
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperinsulinemia, Nucl... ORPHA:79237
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis, Iris coloboma OMIM:244300
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Hemochromatosis, Type 4
Diabetes mellitus, Impotence, Cataract OMIM:606069
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Nanophthalmos 4
Microphthalmia OMIM:615972
Wolfram Syndrome 1
Diabetes mellitus, Cataract, Diabetes insipidus, Hypothyroidism, Testicular atrophy OMIM:222300
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma ORPHA:494344
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Microp... ORPHA:899
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Delayed puberty ORPHA:496790
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular ... ORPHA:127
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Temtamy Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation OMIM:218340
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:568
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Oculoauricular Syndrome
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... OMIM:612109
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Iris coloboma, Cryptorchidism OMIM:243310
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... OMIM:206900
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Hypogonadism OMIM:610651
Gorlin Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Iris coloboma ORPHA:377
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis OMIM:614230
Retinitis Pigmentosa 84
Cataract OMIM:618220
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplas... ORPHA:3376
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Posterior subcapsular cataract, Cataract OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract OMIM:612379
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Decreased fertility OMIM:234050
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract OMIM:614105
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly OMIM:120200
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea ORPHA:370959
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Cryptorchidism, Pterygium, Cataract OMIM:224410
Adams-Oliver Syndrome 2
Microphthalmia, Developmental cataract OMIM:614219
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... OMIM:212720
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Micropht... OMIM:243605
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:157640
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... OMIM:309801
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Hypospadias, Unilateral microphthalmos OMIM:618874
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Hypoplastic female external genit... OMIM:612469
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
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Iris coloboma ORPHA:2328
Bardet-Biedl Syndrome 9
Astigmatism, Irregular menstruation, Cataract OMIM:615986
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy ORPHA:1839
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male ... OMIM:236670
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level OMIM:146200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Harrod Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:2115
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Cryptorchidism ORPHA:369891
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy OMIM:616449
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria OMIM:257910
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Frontorhiny
Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma ORPHA:391474
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia OMIM:601675
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:250989
Refsum Disease
Microphthalmia, Cataract ORPHA:773
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia ORPHA:3412
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Meckel Syndrome
Anophthalmia, Cataract, True hermaphroditism, Sclerocornea, Pancreatic fibrosis, Pancreatic cysts... ORPHA:564
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Cata... ORPHA:2238
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cowden Syndrome 5
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... OMIM:615108
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Cataract OMIM:618571
Cowden Syndrome 6
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... OMIM:615109
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua... OMIM:606519
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... OMIM:609053
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Werner Syndrome
Diabetes mellitus, Cataract, Hypogonadism, Hypertriglyceridemia OMIM:277700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cataract, Female hypogonadism, Premature ovarian insufficiency, Decreased cir... OMIM:240300
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... OMIM:268400
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract, Hypospadias ORPHA:65286
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular hypoplasia, Labial hypopla... OMIM:147791
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Abnormality of the uterus, Abnormal fallopi... ORPHA:99776
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Fryns Syndrome
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Cataract, Leukocoria ORPHA:2714
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Trisomy 18
Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnormal morphology of female internal gen... ORPHA:3380
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... OMIM:609049
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Ectopic thyroid, M... ORPHA:42775
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic... ORPHA:93325
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Abnormal cornea morphology OMIM:244400
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia, Megaloc... OMIM:223370
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... ORPHA:649
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Abnormality of ... ORPHA:861
Cohen Syndrome
Microphthalmia, Delayed puberty, Iris coloboma, Cryptorchidism ORPHA:193
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea OMIM:300952
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Mend Syndrome
Microphthalmia, Cataract, Cryptorchidism ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Joubert Syndrome 22
Microphthalmia OMIM:615665
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Mi... OMIM:273395
Fanconi Anemia
Cataract, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the i... ORPHA:84
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... ORPHA:464738
Hallermann-Streiff Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism OMIM:234100
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Developmental cataract OMIM:127000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia, Hypothyroidism, Developmental cataract ORPHA:2108
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Micropenis, Hypoplastic labia majora, Poplit... OMIM:263650
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Incontinentia Pigmenti
Hypoplasia of the fovea, Cataract, Supernumerary nipple, Keratitis, Breast aplasia, Hypoplastic n... OMIM:308300
Pelvis-Shoulder Dysplasia
Microcornea, Ambiguous genitalia, Bilateral microphthalmos, Iris coloboma ORPHA:2839
Papillorenal Syndrome
Microphthalmia, Cataract, Lens luxation OMIM:120330
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... OMIM:269200
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
2Q31.1 Microdeletion Syndrome
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Cryptorchidism ORPHA:251014
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Basal Cell Nevus Syndrome 1
Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Monosomy 18P
Microphthalmia, Hypothyroidism ORPHA:1598
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma OMIM:613884
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma ORPHA:1692
Monosomy 9Q22.3
Microphthalmia, Cataract, Ovarian fibroma ORPHA:77301
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, ... ORPHA:2556
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cataract, Hypothyroidism, Cryptorchidism OMIM:620005
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Fanconi Anemia, Complementation Group F
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Atelis Syndrome 2
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,... OMIM:620185
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma OMIM:251300
Cousin Syndrome
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, D... OMIM:309000
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
Duane-Radial Ray Syndrome
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma OMIM:607323
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism ORPHA:1052
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbi... OMIM:229850
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Cockayne Syndrome B
Cryptorchidism, Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the... OMIM:133540
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia OMIM:616734
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Hypercholesterolemia, Cryptorchidism, Abnormal pu... ORPHA:534
Histiocytoid Cardiomyopathy
Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma ORPHA:959
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Incontinentia Pigmenti
Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Microphthalmia ORPHA:464
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, External genital hypoplasia, Mic... ORPHA:141099
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivit... ORPHA:33364
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:2092
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Developmental cataract... OMIM:300166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Peters anomaly, Microphthalmia, Annular pancreas OMIM:616975
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Stillbirth, Cryptorchidism OMIM:616300
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Microph... ORPHA:2162
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Progeroid Short Stature With Pigmented Nevi
Cataract, Hypospadias, Premature ovarian insufficiency, Diabetes mellitus, Allergic conjunctiviti... OMIM:176690
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder OMIM:184705
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Elevated circulating thyroid-stimulating hormone concentra... OMIM:601812
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Cockayne Syndrome
Cataract, Diabetes mellitus, Band keratopathy, Cryptorchidism, Absence of pubertal development, D... ORPHA:191
Renpenning Syndrome 1
Cataract, Hypospadias, Phimosis, Microphthalmia, Decreased testicular size OMIM:309500
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... OMIM:601186
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Microphthalmia, Pterygium OMIM:256520
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... OMIM:610829
Myhre Syndrome
Microphthalmia, Cataract, Cryptorchidism OMIM:139210
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Cryptorchidism,... ORPHA:857
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Aicardi Syndrome
Precocious puberty, Microphthalmia, Cataract OMIM:304050
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy OMIM:201180
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidis... OMIM:607932
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia ... OMIM:235730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... OMIM:609945
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cockayne Syndrome Type 3
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... OMIM:253280
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... ORPHA:3472
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele te... OMIM:620186
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Cholelithiasis, Cryptorchidism, Hypop... ORPHA:567
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormality of the ad... ORPHA:138
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... OMIM:175780
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma ORPHA:268249
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Joubert Syndrome 14
Microphthalmia OMIM:614424
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Cataract, Hypogonadotropic hypogonadism, External genital hypop... OMIM:214800
Cat Eye Syndrome
Microphthalmia, Iris coloboma OMIM:115470
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Cataract ORPHA:2526
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Clitoral hypoplasia, Hypoplas... OMIM:305600
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia OMIM:251230
Fraser Syndrome 1
Anophthalmia, Corneal opacity, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate ... OMIM:219000
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Iris coloboma, Hypospadias, Optic nerve hypoplasia ORPHA:508498
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma, Absent gallbladder ORPHA:3186
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Corneal opacity, Enlarged labia minora, Cryptorchidism, Long penis, Bicorn... OMIM:268300
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Neonatal death, Microphthalmia, Micropenis OMIM:617925
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Unilateral cryptorchidism, Decreased response to growth hormone stimulatio... OMIM:613406
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopi... OMIM:113620
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Neon... OMIM:612289
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos ORPHA:2563
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Aicardi Syndrome
Precocious puberty, Microphthalmia, Delayed puberty ORPHA:50
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Corneal crystals, Primary hypothyroidism, Recurrent corneal ... OMIM:219800
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Degcags Syndrome
Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia OMIM:619488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism,... ORPHA:261552
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Hydrocele tes... ORPHA:261537
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Microcornea, Ciliary body coloboma, Microphthalmia, Ir... OMIM:309800
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Hydrocele tes... ORPHA:2152
Holoprosencephaly 2
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesis OMIM:157170
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina ... OMIM:236680
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 1
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Cystic Fibrosis
Male infertility, Steatorrhea OMIM:219700
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210
Rhizomelic Chondrodysplasia Punctata, Type 3
OMIM:600121

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 Agps

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 Agps.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome. Molecular genetics and metabolism reports (January 2014) Agpstm1a(KOMP)Wtsi PMC4151185

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Agpstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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