Gene Summary

Name:
tumor-associated calcium signal transducer 2
Synonyms:
GA733-1,  Ly97,  EGP-1,  TROP2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Tacstd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Tacstd2em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Tacstd2em1(IMPC)Mbp HOM Early adult 0.00
small testis Tacstd2em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Tacstd2em1(IMPC)Mbp HOM Early adult 7.78×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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

70 Images

X-ray

XRay Images Whole Body Lateral Orientation

34 Images

Human diseases caused by Tacstd2 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 Tacstd2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Gelatinous Drop-Like
OMIM:204870
Gelatinous Drop-Like Corneal Dystrophy
ORPHA:98957

The table below shows human diseases predicted to be associated to Tacstd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment OMIM:613909
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cognitive impairment, Male infertility ORPHA:276183
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias ORPHA:141333
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia OMIM:613730
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Microphthalmia OMIM:600118
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Meckel Syndrome, Type 8
Ambiguous genitalia, Anophthalmia, Microphthalmia OMIM:613885
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia ORPHA:85284
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasi... ORPHA:2470
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Joubert Syndrome 37
Micropenis, Decreased testicular size, Cryptorchidism, Microphthalmia OMIM:619185
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Congenital Toxoplasmosis
Cognitive impairment, Microphthalmia ORPHA:858
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Trisomy 13
Abnormal morphology of female internal genitalia, Anophthalmia, Cryptorchidism, Displacement of t... ORPHA:3378
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism OMIM:618652
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia ORPHA:228390
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Microphthalmia OMIM:610756
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Cerebrooculofacioskeletal Syndrome 1
Progressive neurologic deterioration, Cryptorchidism, Microphthalmia OMIM:214150
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Microphthalmia, Vaginal atresia, Hypoplasia of the uter... OMIM:617914
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis, Microphthalmia ORPHA:335
Warburg Micro Syndrome 4
Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:2505
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Rere-Related Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:494344
Moebius Syndrome
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia OMIM:157900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora OMIM:614222
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism, Microphthalmia OMIM:243310
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Cryptorchidism, Microphthalmia ORPHA:404440
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Lissencephaly 8
Microphthalmia OMIM:617255
Myoclonic-Astatic Epilepsy
Attention deficit hyperactivity disorder, Abnormal emotion, Microphthalmia ORPHA:1942
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Micro Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, C... ORPHA:2510
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Microphthalmia ORPHA:2728
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Ovarian carcinoma, Microphthalmia OMIM:617883
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Microphthalmia OMIM:618494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume OMIM:301108
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism OMIM:616395
Gracile Bone Dysplasia
Micropenis, Aniridia, Microphthalmia OMIM:602361
Marden-Walker Syndrome
Micropenis, Hypospadias, Cryptorchidism, Microphthalmia OMIM:248700
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Kapur-Toriello Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia ORPHA:2328
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia ORPHA:3301
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Attention deficit hyperactivity disorder, Microphthalmia OMIM:152950
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Kapur-Toriello Syndrome
Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia OMIM:244300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Microphthalmia, Increased circulating gon... OMIM:110100
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Norrie Disease
Dementia, Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:613001
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary am... OMIM:157640
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:212720
3Q29 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Depression, Hypospadias, Microphthalmia ORPHA:65286
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Fetal Alcohol Syndrome
Cognitive impairment, Microphthalmia ORPHA:1915
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Optic nerve hypoplasia, Mi... OMIM:609053
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary ... OMIM:603457
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Attention deficit hyperactivity disorder, Supernumerary nipple OMIM:620098
1Q21.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Depression, Cryptorchidism, Microphthalmia ORPHA:250989
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias OMIM:619148
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Pseudotrisomy 13 Syndrome
Cryptorchidism, Adrenal hypoplasia, Microphthalmia, Micropenis, Bicornuate uterus OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Microphthalmia ORPHA:284160
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Microphthalmia, Lenz Type
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:568
Temtamy Syndrome
Microphthalmia OMIM:218340
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia OMIM:603467
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Hypoplasia ... ORPHA:2166
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia OMIM:227650
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:614230
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:600901
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Microphthalmia OMIM:616449
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Joubert Syndrome 14
Microphthalmia, Irritability OMIM:614424
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Microphthalmia ORPHA:435638
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Microphthalmia, Hypospad... OMIM:147791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:2059
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Microphthalmia OMIM:234050
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Attention deficit hyperactivity disorder, Microphthalmia, Micro... OMIM:227646
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... OMIM:309801
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Cognitive impairment, Supernumerary nipple ORPHA:1236
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Meckel Syndrome
Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the iris, Male pseudohe... ORPHA:564
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Cohen Syndrome
Delayed puberty, Cryptorchidism, Microphthalmia ORPHA:193
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Dubowitz Syndrome
Hypoplasia of the iris, Short attention span, Cryptorchidism, Microphthalmia, Hypospadias OMIM:223370
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Trisomy 18
Microphthalmia, Cognitive impairment, Cryptorchidism, Abnormal morphology of female internal geni... ORPHA:3380
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp... OMIM:236670
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia OMIM:619879
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Phace Association
Microphthalmia, Congenital hypothyroidism, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Refsum Disease
Microphthalmia ORPHA:773
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Holoprosencephaly
Panhypopituitarism, Cryptorchidism, Anophthalmia, Cognitive impairment, Microphthalmia, Hypoplasi... ORPHA:2162
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Frontorhiny
Hypopituitarism, Diabetes insipidus, Microphthalmia ORPHA:391474
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Microphthalmia ORPHA:1692
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder, Microphthalmia OMIM:614083
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia ORPHA:464738
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Microphthalmia ORPHA:251014
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent testis, Aplasia/Hypo... ORPHA:84
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Microphthalmia OMIM:616300
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Micro... ORPHA:861
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Steinert Myotonic Dystrophy
Mental deterioration, Male hypogonadism, Depression, Cholelithiasis, Impotence, Decreased respons... ORPHA:273
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Atelis Syndrome 2
Microphthalmia, Attention deficit hyperactivity disorder, Elevated circulating thyroid-stimulatin... OMIM:620185
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Incontinentia Pigmenti
Microphthalmia, Attention deficit hyperactivity disorder, Cognitive impairment, Supernumerary nipple ORPHA:464
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia OMIM:260660
Rothmund-Thomson Syndrome, Type 2
Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism, Attention deficit hyperactivity disorder, Microphthalmia, Hypos... OMIM:616975
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypoplasia of the fovea, Hypoplastic nip... OMIM:308300
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia ORPHA:2108
Fraser Syndrome 2
Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia OMIM:617666
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Fryns Syndrome
Hypospadias, Bifid scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Bicornuate uterus, Ect... OMIM:229850
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy... ORPHA:138
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Focal Dermal Hypoplasia
Hypoplasia of the iris, Cognitive impairment, Microphthalmia ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitoral hypoplasia OMIM:609945
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis OMIM:617925
Monosomy 9P
Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:261112
Chromosome 13Q14 Deletion Syndrome
Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:613884
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Depression, Abnormal circulating calcium-phosphate regulating hormone concen... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia OMIM:616734
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Norrie Disease
Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Irritability, Attention deficit hyperact... ORPHA:649
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Microphthalmia ORPHA:3103
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Hypoplasia of... OMIM:273395
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
22Q11.2 Deletion Syndrome
Cholelithiasis, Depression, Abnormality of the uterus, Cryptorchidism, Hypoplasia of the thymus, ... ORPHA:567
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Ambiguous genitalia, Hypothyroidism, Microphthalmia ORPHA:1052
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia OMIM:601812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... ORPHA:2052
Meckel Syndrome, Type 1
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... OMIM:249000
Cockayne Syndrome B
Micropenis, Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:133540
Microgastria-Limb Reduction Defect Syndrome
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia ORPHA:2538
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Congenital hypoparathyroidism, Abnormal circulating follicle-stimulati... ORPHA:93325
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Cockayne Syndrome
Mental deterioration, Absence of pubertal development, Cryptorchidism, Delayed puberty, Cognitive... ORPHA:191
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Microphthalmia, Syndromic 2
Septate vagina, Adrenal insufficiency, Cryptorchidism, Anophthalmia, Phthisis bulbi, Hypothyroidi... OMIM:300166
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Aicardi Syndrome
Precocious puberty, Delayed puberty, Microphthalmia ORPHA:50
Papillorenal Syndrome
Microphthalmia OMIM:120330
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia ORPHA:468631
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Gonadal dysgenesis ORPHA:33364
Phace Syndrome
Ectopic thyroid, Hypothyroidism, Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Hypospadias, Microphthalmia ORPHA:508498
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Cognitive impairment, Microphthalmia ORPHA:90324
Renpenning Syndrome 1
Decreased testicular size, Hypospadias, Phimosis, Microphthalmia OMIM:309500
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... OMIM:612289
Yunis-Varon Syndrome
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Hypoplastic labia majora, Microph... ORPHA:3472
Microphthalmia, Syndromic 6
Small scrotum, Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyroidism, Adrenal hy... OMIM:607932
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cat Eye Syndrome
Microphthalmia OMIM:115470
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma... OMIM:219000
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Degcags Syndrome
Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia, Hypospadias OMIM:619488
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Hypothyroid... ORPHA:857
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Focal Dermal Hypoplasia
Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla... OMIM:305600
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Witteveen-Kolk Syndrome
Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes... OMIM:613406
Proboscis Lateralis
External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos, Microphthalmia OMIM:610828
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 1
Micropenis, Diabetes insipidus, Adrenal hypoplasia, Microphthalmia OMIM:236100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Microphthalmia OMIM:256520
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Adrenal gland dysgenesis, Microphthalmia, Bifid uterus, Hypospadias OMIM:236680
Traboulsi Syndrome
Microphthalmia OMIM:601552
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Microphthalmia OMIM:309000
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias OMIM:235730
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Hyposp... OMIM:113620
Neuroocular Syndrome 1
Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Lens coloboma, Microphthalmia OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Microphthalmia, Bicornua... OMIM:268300
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Low frustration tolerance, Bilateral microphthalmos, Optic nerve hyp... ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Oligomenorrhea, Microphthal... ORPHA:2152
Holoprosencephaly 2
Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,... ORPHA:261552
Microphthalmia, Syndromic 1
Hypospadias, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Corneal Dystrophy, Gelatinous Drop-Like
OMIM:204870
Gelatinous Drop-Like Corneal Dystrophy
ORPHA:98957

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 Tacstd2

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 Tacstd2.

No publications found that use IMPC mice or data for Tacstd2.

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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
Tacstd2em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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