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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	8.79×10^-06
microphthalmia	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
small seminal vesicle	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating alanine transaminase level	Grtp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.74×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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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 (395 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	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
Nanophthalmos	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
Hydrolethalus	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
Vitreoretinochoroidopathy	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
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhypopituitarism, ...	ORPHA:2162
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Frontorhiny	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
Trichothiodystrophy	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

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.

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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

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Gene: Grtp1 MGI:1914040

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Eye Morphology

Human diseases caused by Grtp1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data