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Gene: Nprl2 MGI:1914482

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

NPR2 like, GATOR1 complex subunit

Synonyms:

G21, NPRL2, NPR2L, Tusc4, 2810446G01Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Nprl2 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 Nprl2 (2 diseases)
Human diseases predicted to be associated with Nprl2 (428 diseases)

The table below shows human diseases associated to Nprl2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Epilepsy, Familial Focal, With Variable Foci 2			OMIM:617116
Familial Focal Epilepsy With Variable Foci			ORPHA:98820

The table below shows human diseases predicted to be associated to Nprl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Gombo Syndrome	Microphthalmia	OMIM:233270
Essential Fructosuria	Abnormal erythrocyte enzyme level, Impairment of fructose metabolism	ORPHA:2056
Fructosuria, Essential	Impairment of fructose metabolism	OMIM:229800
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Anemia, Microphthalmia, Thrombocytopenia, ...	ORPHA:858
Cystinuria	Abnormality of amino acid metabolism	ORPHA:214
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Impairment of galactose metabolism, Hepatomegaly	ORPHA:79238
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Mic...	OMIM:618805
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:613885
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Abnormal glycosylation	OMIM:615596
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann...	ORPHA:2470
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Abnormal glycosylation, Splenomegaly, Copper accumul...	OMIM:616828
Fructose And Galactose Intolerance	Fructose intolerance, Galactose intolerance	OMIM:229500
Tyrosinemia Type 2	Abnormality of amino acid metabolism	ORPHA:28378
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Int...	ORPHA:290
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Abnormality of amino acid metabolism	ORPHA:394
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Galactose Mutarotase Deficiency	Hepatomegaly, Impairment of galactose metabolism, Decreased liver function, Cholestasis	ORPHA:570422
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Abnormality of amino acid metabolism	ORPHA:220295
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Trisomy 13	Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:3378
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Mmep Syndrome	Microphthalmia	ORPHA:3434
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microphthalmia, Type I transferrin isoform profile, Microcytic anemia	OMIM:612379
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Intrauterine growth retardation	OMIM:616171
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia, Hepatomegaly	ORPHA:90322
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Cofs Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1466
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Stt3B-Cdg	Abnormal glycosylation, Intrauterine growth retardation, Thrombocytopenia	ORPHA:370924
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Congenital Disorder Of Glycosylation, Type Ix	Abnormal glycosylation, Intrauterine growth retardation, Thrombocytopenia	OMIM:615597
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:195
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Aspartylglucosaminuria	Splenomegaly, Umbilical hernia, Abnormality of amino acid metabolism, Hepatomegaly	ORPHA:93
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Anemia	ORPHA:90321
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Intrauterine growth retardation, H...	OMIM:601186
Meckel Syndrome	Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic ...	ORPHA:564
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Hartsfield Syndrome	Encephalocele, Intrauterine growth retardation, Microphthalmia	ORPHA:2117
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:48431
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly	OMIM:613730
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly	OMIM:611561
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:603194
Trisomy 1Q	Anophthalmia	ORPHA:261344
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Fanconi Anemia, Complementation Group R	Microphthalmia, Anemia	OMIM:617244
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Fibular Hemimelia	Thrombocytopenia, Anophthalmia, Spina bifida	ORPHA:93323
Pierpont Syndrome	Microphthalmia	OMIM:602342
Fanconi Anemia, Complementation Group S	Microphthalmia, Anemia	OMIM:617883
Osteoporosis-Pseudoglioma Syndrome	Low serum calcitriol, Microphthalmia	ORPHA:2788
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:611134
Vacterl With Hydrocephalus	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Spina bifida	ORPHA:3412
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Developmental And Epileptic Encephalopathy 50	Abnormal glycosylation, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia	OMIM:616457
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Holoprosencephaly	Encephalocele, Anophthalmia, Abnormality of the spleen, Spinal dysraphism, Branchial anomaly, Mic...	ORPHA:2162
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly	OMIM:615636
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly	ORPHA:2538
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia	OMIM:602361
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Adams-Oliver Syndrome	Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphth...	ORPHA:974
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation, Lymphopenia, Neutropenia	OMIM:616395
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Abnormality of vitamin metabolism, Increased hepat...	ORPHA:71
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation	OMIM:610756
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:600901
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Bresek Syndrome	Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia	ORPHA:85284
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microphthalmia	OMIM:614105
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Umbilical hernia, Anophthalmia	ORPHA:1101
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:227650
Congenital Fibrinogen Deficiency	Microphthalmia, Splenic rupture	ORPHA:335
Fanconi Anemia, Complementation Group I	Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Neutropenia	OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Fanconi Anemia, Complementation Group C	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia,...	OMIM:227645
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Abnormal glycosylation	OMIM:617395
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Intrauterine growth retardation	OMIM:300863
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Microphthalmia, Thrombocytopenia, Intrauterine growth retardation	OMIM:603467
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Intrauterine growth retardation, Microphthalmia	ORPHA:228390
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Morgagni-Stewart-Morel Syndrome	Abnormal metabolism	ORPHA:77296
Slc35A2-Cdg	Elevated hepatic transaminase, Abnormal glycosylation, Decreased sialylation of O-linked protein ...	ORPHA:356961
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Umbilical hernia, Lens coloboma	OMIM:618914
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Intrauterine growth retardation	ORPHA:163966
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormality of vitamin metabolism, Decreased proportion of CD3-positive T ce...	ORPHA:90362
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia	OMIM:617914
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Monosomy 18P	Microphthalmia	ORPHA:1598
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Rodrigues Blindness	Microphthalmia	OMIM:268320
Moebius Syndrome	Microphthalmia	OMIM:157900
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Fetal Alcohol Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1915
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia,...	OMIM:227646
Stt3A-Cdg	Abnormal glycosylation	ORPHA:370921
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mosaic Trisomy 9	Spina bifida, Asplenia, Abnormal liver lobulation, Microphthalmia, Intrauterine growth retardation	ORPHA:99776
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia	OMIM:127000
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Marden-Walker Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:248700
Atelis Syndrome 2	Microphthalmia, Thrombocytopenia, Anemia	OMIM:620185
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele	OMIM:614424
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Charge Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia	ORPHA:138
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia, Syndromic 2	Microphthalmia, Umbilical hernia, Phthisis bulbi, Anophthalmia	OMIM:300166
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele...	ORPHA:2088
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Aniridia, Microphthalmia, Umbilical hernia, Spina bifida occulta	OMIM:305600
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Fanconi Anemia, Complementation Group L	Microphthalmia, Intrauterine growth retardation, Anemia	OMIM:614083
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia, Annular pancreas, Thrombocytopenia, Intrauterine growth retar...	OMIM:147791
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Microphthalmia, Umbilical hernia	ORPHA:2052
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Frontorhiny	Encephalocele, Cranium bifidum occultum, Microphthalmia, Basal encephalocele	ORPHA:391474
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Neutropenia	ORPHA:193
Stromme Syndrome	Accessory spleen, Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele, Hepatic fibrosis	OMIM:619879
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Charge Syndrome	Anophthalmia, Unilateral microphthalmos, Umbilical hernia, Microphthalmia, Lymphopenia	OMIM:214800
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Frontonasal Dysplasia 2	Encephalocele, Intrauterine growth retardation, Microphthalmia	OMIM:613451
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmia, Intrauteri...	OMIM:223370
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microphthalmia, Buphthalmos	OMIM:613150
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Leukocytosis, Eosinophilia	OMIM:308300
Mosaic Trisomy 1	Microphthalmia, Hepatic agenesis	ORPHA:1692
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Spina bifida, Aplasia/Hypoplasia of the iris, Leukope...	ORPHA:84
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:227810
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Bilateral microphthalmos, Anemia	ORPHA:93325
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Biliary atresia	OMIM:115470
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Incontinentia Pigmenti	Microphthalmia, Umbilical hernia, Spina bifida occulta, Eosinophilia	ORPHA:464
Branchiooculofacial Syndrome	Microphthalmia, Intrauterine growth retardation, Branchial anomaly, Anophthalmia	OMIM:113620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Focal Dermal Hypoplasia	Acute hepatic failure, Spina bifida, Hypoplasia of the iris, Microphthalmia, Umbilical hernia	ORPHA:2092
Galloway-Mowat Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:617729
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Cholelithiasis	ORPHA:464738
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Trichothiodystrophy	Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Neutropenia, Umbil...	ORPHA:33364
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:251300
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La...	OMIM:249000
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2714
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
1Q21.1 Microdeletion Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:250989
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Trisomy 18	Microphthalmia, Intrauterine growth retardation, Anencephaly, Spina bifida	ORPHA:3380
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Steinfeld Syndrome	Microphthalmia, Absent gallbladder	OMIM:184705
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation	OMIM:133540
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intrauterine growth retardation, Acute lymphoblastic leukemia	ORPHA:1052
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Oculocerebrorenal Syndrome Of Lowe	Thrombocytopenia, Buphthalmos, Microphthalmia, Umbilical hernia, Low levels of vitamin D, Anemia	ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Fryns Syndrome	Microphthalmia	ORPHA:2059
Roberts Syndrome	Microphthalmia, Severe intrauterine growth retardation, Thrombocytopenia	ORPHA:3103
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Microphthalmia, Hypoplasia of the thymus	ORPHA:861
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
22Q11.2 Deletion Syndrome	Spina bifida, Splenomegaly, Meningocele, Occipital myelomeningocele, Hypoplasia of the thymus, Mi...	ORPHA:567
Cockayne Syndrome Type 3	Splenomegaly, Microphthalmia, Elevated hepatic transaminase, Hepatomegaly	ORPHA:90324
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Hepatomegaly	ORPHA:137675
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Pallister-Hall Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:146510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Spina bifida, Exocrine pancreatic insufficiency	ORPHA:508498
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Aplasia of the thymus, Prolonged neonatal jaundice, Microphthalmia, Intrauterine ...	OMIM:620186
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Intrauterine growth retardation, Annular pancreas	OMIM:616975
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Umbilical hernia, Microphthalmia	ORPHA:2166
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas	OMIM:268400
Tetraamelia Syndrome 1	Asplenia, Microphthalmia	OMIM:273395
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Absent gallbladder	OMIM:617925
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus	ORPHA:2108
Fryns Syndrome	Microphthalmia, Ectopic pancreatic tissue, Polysplenia	OMIM:229850
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Spina bifida	OMIM:304050
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Aicardi Syndrome	Hepatoblastoma, Microphthalmia	ORPHA:50
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Absent gallbladder	ORPHA:3186
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia	OMIM:164210
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Cockayne Syndrome	Splenomegaly, Microphthalmia, Elevated hepatic transaminase, Hepatomegaly	ORPHA:191
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Monosomy 13Q14	Microphthalmia, Intrauterine growth retardation	ORPHA:1587
Holoprosencephaly 7	Microphthalmia, Occipital meningocele, Bilateral microphthalmos	OMIM:610828
Hydrolethalus Syndrome 1	Microphthalmia, Intrauterine growth retardation, Anencephaly, Accessory spleen	OMIM:236680
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Myhre Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:139210
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Mend Syndrome	Microphthalmia	ORPHA:401973
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Fructose intolerance, Hepatic s...	OMIM:229600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hemolytic anemia	OMIM:175780
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Intrauterine growth retardat...	OMIM:256520
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Neuroocular Syndrome	Hypoplasia of the fovea, Umbilical hernia, Lens coloboma, Microphthalmia	OMIM:619539
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Frontal encephalocele, Biliary tract abnormality, Severe intrauterine growth re...	OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
8Q24.3 Microdeletion Syndrome	Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine growth retardation...	ORPHA:508488
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula, Intrauterine growth retardation	OMIM:613406
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Intrauterine growth retardation	ORPHA:672
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Microphthalmia	ORPHA:2152
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Microphthalmia	ORPHA:261552
Epilepsy, Familial Focal, With Variable Foci 2		OMIM:617116
Familial Focal Epilepsy With Variable Foci		ORPHA:98820

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 Nprl2

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 Nprl2.

No publications found that use IMPC mice or data for Nprl2.

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

MGI Allele	Allele Type	Produced
Nprl2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nprl2^{tm457953(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nprl2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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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