Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Grtp1 MGI:1914040

Gene Summary

Name:

GH regulated TBC protein 1

Synonyms:

5430401C05Rik, Tbc1d6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.68×10^-06
small seminal vesicle	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
microphthalmia	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating alanine transaminase level	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.35×10^-05

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.

Gross Pathology and Tissue Collection

Images

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Combined SHIRPA and Dysmorphology

Images

1 Images

View images

Eye Morphology

Images Ophthalmoscopy

2 Images

View 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.

Human diseases associated with Grtp1 (0 diseases)
Human diseases predicted to be associated with Grtp1 (391 diseases)

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	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	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
Nanophthalmos	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
Hydrolethalus	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
Vitreoretinochoroidopathy	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
Frontorhiny	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
Holoprosencephaly	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
Trichothiodystrophy	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

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 Grtp1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Grtp1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Grtp1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Grtp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Grtp1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Grtp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Grtp1 MGI:1914040

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Eye Morphology

Human diseases caused by Grtp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data