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Gene: Cds1 MGI:1921846

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Gene Summary

Name:
CDP-diacylglycerol synthase 1
Synonyms:
phosphatidate cytidylyltransferase,  4833409J18Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Cds1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Cds1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Cds1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

103 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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Human diseases caused by Cds1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cds1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Spermatogenic Failure 17
Male infertility OMIM:617214
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
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, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
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 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
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
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
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
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 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
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
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
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
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Warburg Micro Syndrome 1
Microphthalmia, Cryptorchidism OMIM:600118
Pierpont Syndrome
Microphthalmia, Cryptorchidism OMIM:602342
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism OMIM:610125
Joubert Syndrome 37
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:619185
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Microphthalmia, Amen... OMIM:110100
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:3378
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:228390
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Seckel Syndrome 2
Microphthalmia OMIM:606744
Moebius Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Hydrolethalus
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2189
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:77298
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cryptorchidism ORPHA:494344
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2470
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Warburg Micro Syndrome 4
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Decreased fertility OMIM:234050
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Monosomy 18P
Microphthalmia ORPHA:1598
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Congenital Fibrinogen Deficiency
Microphthalmia, Decreased testicular size ORPHA:335
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Warburg Micro Syndrome 3
Microphthalmia, Decreased testicular size OMIM:614222
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism OMIM:248700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:899
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism ORPHA:2728
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Cryptorchidism OMIM:241410
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Cryptorchidism ORPHA:3301
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:612530
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Cryptorchidism ORPHA:2505
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Refsum Disease
Microphthalmia ORPHA:773
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
Martsolf Syndrome 1
Microphthalmia, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Warburg Micro Syndrome 2
Microphthalmia, Cryptorchidism OMIM:614225
Micro Syndrome
Microphthalmia, Cryptorchidism ORPHA:2510
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Joubert Syndrome 14
Microphthalmia OMIM:614424
Kapur-Toriello Syndrome
Microphthalmia, Cryptorchidism OMIM:244300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Cryptor... OMIM:206900
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:619148
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypogonadism, Cryptorchidism ORPHA:2250
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
8Q21.11 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:284160
Microphthalmia, Lenz Type
Microphthalmia, Cryptorchidism ORPHA:568
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:614230
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Pseudotrisomy 13 Syndrome
Microphthalmia, Cryptorchidism OMIM:264480
Cohen Syndrome
Microphthalmia, Cryptorchidism ORPHA:193
Mosaic Trisomy 9
Microphthalmia, Cryptorchidism ORPHA:99776
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:3412
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism OMIM:603467
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Fryns Syndrome
Microphthalmia, Cryptorchidism ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Unilateral microphthalmos OMIM:618874
Ohdo Syndrome, X-Linked
Microphthalmia, Cryptorchidism OMIM:300895
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism OMIM:236670
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Joubert Syndrome 2
Microphthalmia OMIM:608091
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Cryptorchidism OMIM:147791
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Cryptorchidism OMIM:616300
Trisomy 18
Microphthalmia, Cryptorchidism ORPHA:3380
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:223370
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:603457
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Meckel Syndrome 14
Microphthalmia OMIM:619879
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Holoprosencephaly
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2162
Fanconi Anemia
Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoospermia, Decreased fertility in males, Hypogo... ORPHA:84
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227646
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cousin Syndrome
Microphthalmia OMIM:260660
Atelis Syndrome 2
Microphthalmia OMIM:620185
Microphthalmia, Syndromic 9
Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:601186
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism OMIM:610829
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Chordee OMIM:309801
Cat Eye Syndrome
Microphthalmia OMIM:115470
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism ORPHA:2108
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:564
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Cryptorchidism ORPHA:2166
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Cryptorchidism OMIM:616975
Treacher-Collins Syndrome
Microphthalmia, Cryptorchidism ORPHA:861
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Microphthalmia OMIM:263650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:133540
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cryptorchidism OMIM:620005
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Azoospermia, Cryptorchidism ORPHA:534
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos ORPHA:33364
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Monosomy 9P
Microphthalmia, Cryptorchidism ORPHA:261112
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Cryptorchidism OMIM:609945
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Fraser Syndrome 2
Microphthalmia OMIM:617666
Roberts Syndrome
Microphthalmia, Cryptorchidism ORPHA:3103
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Fryns Syndrome
Microphthalmia, Cryptorchidism OMIM:229850
Aicardi Syndrome
Microphthalmia ORPHA:50
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
22Q11.2 Deletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:567
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Abnormal testis morphology ORPHA:2556
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Cryptorchidism OMIM:616734
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Aicardi Syndrome
Microphthalmia OMIM:304050
Charge Syndrome
Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hydrocele testis, Microphthalmia OMIM:620186
Cockayne Syndrome
Microphthalmia, Cryptorchidism ORPHA:191
Degcags Syndrome
Microphthalmia, Chordee, Cryptorchidism OMIM:619488
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Meckel Syndrome, Type 1
Microphthalmia, Cryptorchidism OMIM:249000
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Cryptorchidism OMIM:300166
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:613884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Fontaine Progeroid Syndrome
Microphthalmia, Cryptorchidism OMIM:612289
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Cryptorchidism ORPHA:3472
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia, Cryptorchidism OMIM:305600
Renpenning Syndrome 1
Microphthalmia, Decreased testicular size OMIM:309500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size ORPHA:93325
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Erectile dysfunction, Mic... ORPHA:649
Fraser Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2052
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neu-Laxova Syndrome 1
Microphthalmia, Cryptorchidism OMIM:256520
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Unilateral microphthalmos, Microphth... OMIM:214800
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Female hypogonadism, Cryptorchidism OMIM:607932
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos OMIM:154500
Fraser Syndrome 1
Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:219000
Witteveen-Kolk Syndrome
Microphthalmia, Unilateral cryptorchidism OMIM:613406
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Cryptorchidism ORPHA:672
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:113620
Mowat-Wilson Syndrome
Microphthalmia, Cryptorchidism OMIM:235730
Holoprosencephaly 1
Microphthalmia OMIM:236100
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Townes-Brocks Syndrome
Microphthalmia, Cryptorchidism ORPHA:857
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Chordee, Oligomenorrhea, Microphthalmia ORPHA:2152
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Microphthalmia, Chordee, Cryptorchidism ORPHA:261537
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Cryptorchidism OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Microphthalmia, Chordee, Cryptorchidism ORPHA:261552
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term hypoplasia Cds1em1(IMPC)Mbp HOM Early adult

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 Cds1.

No publications found that use IMPC mice or data for Cds1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cds1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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