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 2.74×10-07
increased circulating aspartate transaminase level Grtp1tm1b(EUCOMM)Hmgu HOM Early adult 8.79×10-06

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 Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Combined SHIRPA and Dysmorphology


1 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/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/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Biemond Syndrome Type 2
Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Fryns Microphthalmia Syndrome
Unicornuate uterus, Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:615181
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
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
Lissencephaly 8
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:617255
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
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
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microphthalmia OMIM:618805
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Micropenis OMIM:602342
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
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
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe OMIM:615249
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism ORPHA:85284
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Con... OMIM:241410
Matthew-Wood Syndrome
Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o... ORPHA:2470
Joubert Syndrome 37
Decreased testicular size, Microphthalmia, Cryptorchidism, Micropenis OMIM:619185
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:77298
Gracile Bone Dysplasia
Hypocalcemia, Microphthalmia, Micropenis, Aniridia OMIM:602361
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Microphthalmia, Micropenis OMIM:610756
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism OMIM:618652
Ring Chromosome 10 Syndrome
Hypocalcemia, Microphthalmia ORPHA:1438
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Microphthalmia ORPHA:3191
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
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Walker-Warburg Syndrome
Microphthalmia, Abnormal circulating creatine kinase concentration, Hypoplasia of penis, Anophtha... ORPHA:899
Temtamy Syndrome
Microphthalmia ORPHA:1777
Trisomy 13
Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris... ORPHA:3378
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:228390
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Warburg Micro Syndrome 4
Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis OMIM:615663
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Microphthalmia, Micropenis ORPHA:335
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration ORPHA:370959
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Moebius Syndrome
Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism OMIM:157900
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Methylmalonic acidemia OMIM:614105
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis OMIM:243310
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Microphthalmia, Ovarian neoplasm OMIM:617883
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Warburg Micro Syndrome 3
Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis OMIM:614222
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cryptorchidism, Hypospadias ORPHA:494344
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Warburg Micro Syndrome 2
Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:614225
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume OMIM:301108
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Solitary Median Maxillary Central Incisor
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... OMIM:147250
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism ORPHA:2728
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Cryptorchidism ORPHA:2510
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora ORPHA:2328
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism OMIM:616395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Microphthalmia With Limb Anomalies
Microphthalmia, Unilateral cryptorchidism, Anophthalmia OMIM:206920
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia OMIM:127000
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Vaginal atresia, Anophthalmia OMIM:248450
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Microphthalmia, Cryptorchidism, Septo-optic dysplasia ORPHA:3301
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry... ORPHA:2250
Kapur-Toriello Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:244300
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:613150
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Temtamy Syndrome
Microphthalmia OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Elevated circulating... OMIM:236670
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Cryptorchidism ORPHA:369891
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia, Decreased response to growth hormone stimulation test OMIM:609053
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Cryptorchidism, Hypoplasia of the iris OMIM:613001
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism OMIM:619148
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Martsolf Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:212720
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:614643
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Elevated circulating creatine kinase concentration OMIM:253800
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Clitoral hypertrophy OMIM:616449
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Mosaic Trisomy 9
Microphthalmia, Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypopl... ORPHA:99776
8Q21.11 Microdeletion Syndrome
Microphthalmia, Cryptorchidism, Hypoplasia of penis ORPHA:284160
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microphthalmia, Lenz Type
Microphthalmia, Cryptorchidism, Hypospadias ORPHA:568
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Fanconi Anemia, Complementation Group F
Microphthalmia, Cryptorchidism, Decreased response to growth hormone stimulation test, Microphallus OMIM:603467
Ohdo Syndrome, X-Linked
Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis OMIM:300895
Pseudotrisomy 13 Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Microphthalmia OMIM:193220
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cryptorchidism, Micropenis OMIM:614230
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Chondrodysplasia Punctata 2, X-Linked Dominant
Elevated 8(9)-cholestenol, Microphthalmia, Elevated 8-dehydrocholesterol OMIM:302960
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoproteinemia, Hypoplasia of the iris, Rieger a... OMIM:609049
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:3412
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Microphthalmia OMIM:617729
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Unilateral microphthalmos, Hypospadias OMIM:618874
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Jacobsen Syndrome
Microphthalmia, Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi... OMIM:147791
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast... OMIM:603457
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto... ORPHA:2166
Joubert Syndrome 14
Microphthalmia OMIM:614424
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Microphthalmia, Hypoplasia of the iris OMIM:251300
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ... OMIM:309801
Dubowitz Syndrome
Microphthalmia, Hypospadias, Hypoplasia of the iris, Hypocholesterolemia, Cryptorchidism OMIM:223370
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Meckel Syndrome
Microphthalmia, Anophthalmia, Male pseudohermaphroditism, True hermaphroditism, Cryptorchidism, A... ORPHA:564
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Hypocalcemic seizures, Congenital hypoparathyroidism, Decreased testicu... ORPHA:93325
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Incontinentia Pigmenti
Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ... OMIM:308300
Cohen Syndrome
Microphthalmia, Cryptorchidism ORPHA:193
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Mosaic Trisomy 1
Penile hypospadias, Microphthalmia, Micropenis ORPHA:1692
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Male urethral meatus stenosis, Hypospadias, Cholelithiasis ORPHA:464738
Pallister-Hall Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrea... OMIM:146510
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Papillorenal Syndrome
Microphthalmia, Elevated circulating creatinine concentration OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Mend Syndrome
Elevated 8(9)-cholestenol, Microphthalmia, Cryptorchidism, Elevated 8-dehydrocholesterol ORPHA:401973
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhypopituitarism, ... ORPHA:2162
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Hypopituitarism, Microphthalmia ORPHA:391474
Phace Association
Optic nerve hypoplasia, Microphthalmia, Lingual thyroid OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypotriglyceridemia ORPHA:85167
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,... OMIM:263650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Cousin Syndrome
Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female OMIM:260660
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Treacher-Collins Syndrome
Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ... ORPHA:861
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Microphthalmia, Elevated circulating creatine kinase concentration, Elevated amni... OMIM:309000
Trisomy 18
Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
Fanconi Anemia, Complementation Group D2
Microphthalmia, Annular pancreas, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:227646
Fanconi Anemia
Microphthalmia, Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnor... ORPHA:84
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Bile duct proliferation, ... OMIM:249000
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:268400
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Hypokalemia, Azoospermia, Hyponatremia, Hypophosphatemia, Hyperparathyroidism, Bu... ORPHA:534
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unconjugated hyperbilirub... OMIM:620186
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Fryns Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s... OMIM:229850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis OMIM:609945
Fanconi Anemia, Complementation Group L
Microphthalmia, Aplasia of the uterus, Micropenis OMIM:614083
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Basal Cell Nevus Syndrome 1
Ovarian carcinoma, Ovarian fibroma, Microphthalmia OMIM:109400
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias ORPHA:261112
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism ORPHA:2108
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia ORPHA:2538
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Cryptorchidism, Hypospadias, Annular pancreas OMIM:616975
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
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
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Tetraamelia Syndrome 1
Microphthalmia, Hypoplasia of the fallopian tube, Vaginal atresia, Adrenal gland agenesis, Absent... OMIM:273395
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Microphthalmia, Vaginal neoplasm ORPHA:1052
Cockayne Syndrome B
Microphthalmia, Cryptorchidism, Micropenis, Hypoplasia of the iris OMIM:133540
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias OMIM:616734
Roberts Syndrome
Microphthalmia, Cryptorchidism, Long penis, Clitoral hypertrophy ORPHA:3103
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fraser Syndrome
Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor... ORPHA:2052
22Q11.2 Deletion Syndrome
Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Hypoplasia of the ... ORPHA:567
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Hypospadias ORPHA:508498
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cryptorchidism OMIM:620005
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Gonadal dysgenesis, Bilateral microphthalmos, Cryptorchidism ORPHA:33364
Charge Syndrome
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid scrotum, Abnorma... ORPHA:138
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism ORPHA:468631
Cat Eye Syndrome
Microphthalmia OMIM:115470
Pallister-Hall Syndrome
Hydrometrocolpos, Microphthalmia, Hypospadias, Aplasia/Hypoplasia of the vagina, Small scrotum, P... ORPHA:672
Degcags Syndrome
Microphthalmia, Hypospadias, Hyperbilirubinemia, Chordee, Ambiguous genitalia, Cryptorchidism OMIM:619488
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Charge Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Extern... OMIM:214800
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Phthisis bulbi, Septate vagina, Cryptorchidism OMIM:300166
Cockayne Syndrome
Microphthalmia, Cryptorchidism, Hyperuricemia ORPHA:191
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid, Lens coloboma ORPHA:42775
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Absent nipple, Small scrotum, Cryptorchidism, Micropenis, Hy... OMIM:612289
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Micr... ORPHA:3472
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Renpenning Syndrome 1
Decreased testicular size, Microphthalmia, Phimosis, Hypospadias OMIM:309500
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas... OMIM:305600
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism OMIM:610828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia ORPHA:141099
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Fraser Syndrome 1
Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Bicornuate uterus, Vag... OMIM:219000
Traboulsi Syndrome
Microphthalmia OMIM:601552
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Elevated circulating creatine kinase concentration, Hypoplasia of the iris OMIM:175780
Townes-Brocks Syndrome
Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morpholog... ORPHA:857
Witteveen-Kolk Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Uni... OMIM:613406
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Small scrotum, Crypt... OMIM:607932
Hydrolethalus Syndrome 1
Microphthalmia, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Neu-Laxova Syndrome 1
Microphthalmia, Bifid uterus, Cryptorchidism OMIM:256520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine r... ORPHA:649
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple OMIM:235730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Cryptorchidism, Supernumerary nipple OMIM:113620
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Enlarged labia minora, Clitoral hypertrophy, Hypospadias, Long penis, Bicornuate ... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism... ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism... ORPHA:261552
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Ectopic posterior pituitary ORPHA:508488
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia 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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