Gene Summary

GH regulated TBC protein 1
5430401C05Rik,  Tbc1d6

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
small seminal vesicle Grtp1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
microphthalmia Grtp1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating alanine transaminase level Grtp1tm1b(EUCOMM)Hmgu HOM Early adult 4.35×10-05
increased circulating aspartate transaminase level Grtp1tm1b(EUCOMM)Hmgu HOM Early adult 8.68×10-06

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology


1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Grtp1 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 Grtp1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
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
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Gombo Syndrome
Microphthalmia OMIM:233270
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
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
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration OMIM:615181
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Lissencephaly 8
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:617255
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613155
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hypoalbuminemia OMIM:618805
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
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
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
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
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613153
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe OMIM:615249
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Hypocalcemia OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... OMIM:241410
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Ring Chromosome 10 Syndrome
Microphthalmia, Hypocalcemia ORPHA:1438
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Abnormal circulating lipid concentration ORPHA:3191
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:616538
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration ORPHA:370959
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra... ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Congenital Fibrinogen Deficiency
Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Microphthalmia OMIM:614105
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
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
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
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
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:494344
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia ORPHA:2510
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613150
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Monosomy 18P
Microphthalmia ORPHA:1598
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia OMIM:127000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Temtamy Syndrome
Microphthalmia OMIM:218340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Cryptorchidism, Bupht... OMIM:236670
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test OMIM:609053
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration OMIM:614643
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Clitoral hypertrophy OMIM:616449
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:253800
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Martsolf Syndrome 1
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:302960
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:568
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Galloway-Mowat Syndrome 3
Microphthalmia, Hypoalbuminemia OMIM:617729
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Fanconi Anemia, Complementation Group F
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Joubert Syndrome 14
Microphthalmia OMIM:614424
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Hypoalbuminemia OMIM:251300
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... ORPHA:2166
Incontinentia Pigmenti
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... OMIM:308300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... OMIM:146510
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Papillorenal Syndrome
Microphthalmia, Elevated circulating creatinine concentration OMIM:120330
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Hypocholesterolemia, Microphthalmia OMIM:223370
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias ORPHA:464738
Meckel Syndrome
Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male p... ORPHA:564
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal... OMIM:603457
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
Fanconi Anemia, Complementation Group A
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, ... ORPHA:93325
Microphthalmia, Hypopituitarism ORPHA:391474
Cohen Syndrome
Microphthalmia, Cryptorchidism ORPHA:193
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypotriglyceridemia ORPHA:85167
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Hyponatremia, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Microphthalmia, Anterior hypopit... ORPHA:2162
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... OMIM:309000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Mend Syndrome
Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cryptorchidism ORPHA:401973
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Elevated amniotic fluid... OMIM:249000
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... ORPHA:861
Trisomy 18
Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism ORPHA:3380
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos... ORPHA:84
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypercholesterolemia, Hypoammonemia, Cryptorchidism, Buphthalm... ORPHA:534
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm... OMIM:273395
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Unconjugated hyperbi... OMIM:620186
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce... OMIM:253280
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism OMIM:616975
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Microphthalmia, Vaginal neoplasm ORPHA:1052
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ute... ORPHA:567
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism ORPHA:2108
Roberts Syndrome
Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism ORPHA:3103
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism OMIM:613884
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia ORPHA:508498
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Micropenis, Cryptorchidism OMIM:133540
Isolated Arrhinia
Microphthalmia ORPHA:1134
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Labial hy... ORPHA:138
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Cat Eye Syndrome
Microphthalmia OMIM:115470
Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos ORPHA:33364
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cryptorchidism OMIM:620005
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... ORPHA:672
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Degcags Syndrome
Hypospadias, Cryptorchidism, Chordee, Hyperbilirubinemia, Ambiguous genitalia, Microphthalmia OMIM:619488
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... OMIM:612289
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Cockayne Syndrome
Microphthalmia, Hyperuricemia, Cryptorchidism ORPHA:191
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia OMIM:300166
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ... ORPHA:3472
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... OMIM:305600
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Micropeni... OMIM:219000
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:175780
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology OMIM:236680
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia, Anterior hypopi... OMIM:607932
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht... ORPHA:649
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia OMIM:235730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia OMIM:113620
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Microphthalmia... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:2152
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:261552
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210


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 Grtp1

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 Grtp1.

No publications found that use IMPC mice or data for Grtp1.

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MGI Allele Allele Type Produced
Grtp1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grtp1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Grtp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Grtp1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Grtp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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