Genes Phenotypes Help, News, Blog

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

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 (432 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
Essential Fructosuria	Abnormal erythrocyte enzyme concentration or activity, Impairment of fructose metabolism	ORPHA:2056
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of amino acid metabolism, Elevated circulating hepatic transaminase concentration, Po...	ORPHA:309854
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Gombo Syndrome	Microphthalmia	OMIM:233270
Fructosuria, Essential	Impairment of fructose metabolism	OMIM:229800
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatom...	ORPHA:858
Cystinuria	Abnormality of amino acid metabolism	ORPHA:214
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Impairment of galactose metabolism, Splenomegaly	ORPHA:79238
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase...	OMIM:618805
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia	OMIM:613885
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Abnormal glycosylation	OMIM:615596
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Matthew-Wood Syndrome	Annular pancreas, Intrauterine growth retardation, Anophthalmia, Abnormal spleen morphology, Micr...	ORPHA:2470
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Fructose And Galactose Intolerance	Galactose intolerance, Fructose intolerance	OMIM:229500
Tyrosinemia Type 2	Abnormality of amino acid metabolism	ORPHA:28378
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:616570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thro...	ORPHA:290
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormality of amino acid ...	ORPHA:394
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Impairment of galactose metabolism, Decreased liver function	ORPHA:570422
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Abnormality of amino acid metabolism	ORPHA:220295
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Anophthalmia Plus Syndrome	Spina bifida, Anophthalmia	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
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mmep Syndrome	Microphthalmia	ORPHA:3434
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Type I transferrin isoform profile, Elevated circulating hepatic transaminase ...	OMIM:612379
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia	OMIM:616171
Hydrolethalus	Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cockayne Syndrome Type 2	Hepatomegaly, Intrauterine growth retardation, Anophthalmia	ORPHA:90322
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Cofs Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
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
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Stt3B-Cdg	Intrauterine growth retardation, Abnormal glycosylation, Thrombocytopenia	ORPHA:370924
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:195
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Aspartylglucosaminuria	Hepatomegaly, Abnormality of amino acid metabolism, Splenomegaly, Umbilical hernia	ORPHA:93
Congenital Disorder Of Glycosylation, Type Ix	Intrauterine growth retardation, Abnormal glycosylation, Thrombocytopenia	OMIM:615597
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Cockayne Syndrome Type 1	Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anophthalmia	ORPHA:90321
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	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
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Microphthalmia	OMIM:602501
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, H...	OMIM:601186
Meckel Syndrome	Accessory spleen, Encephalocele, Congenital hepatic fibrosis, Anophthalmia, Aplasia/Hypoplasia of...	ORPHA:564
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Microphthalmia	OMIM:613730
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly	OMIM:611561
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du...	OMIM:603194
Trisomy 1Q	Anophthalmia	ORPHA:261344
Fanconi Anemia, Complementation Group R	Anemia, Microphthalmia	OMIM:617244
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Osteoporosis-Pseudoglioma Syndrome	Low serum calcitriol, Microphthalmia	ORPHA:2788
Fibular Hemimelia	Anophthalmia, Spina bifida, Thrombocytopenia	ORPHA:93323
Fanconi Anemia, Complementation Group S	Anemia, Microphthalmia	OMIM:617883
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	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du...	OMIM:611134
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Vacterl With Hydrocephalus	Intrauterine growth retardation, Spina bifida, Anophthalmia, Microphthalmia	ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Acanthocytosis, Abnormal glycosylation, Schistocytosis, Anemia	OMIM:616457
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Holoprosencephaly	Spinal dysraphism, Abnormality of the spleen, Branchial anomaly, Encephalocele, Anophthalmia, Mic...	ORPHA:2162
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Anophthalmia	OMIM:615636
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepatic steatosis, Abnor...	ORPHA:71
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen, Microphthalmia	OMIM:602361
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Adams-Oliver Syndrome	Leukopenia, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, Cirrhosis, Thrombocy...	ORPHA:974
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Intrauterine growth retardation, Neutropenia, Microphthalmia	OMIM:616395
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Umbilical hernia	ORPHA:1101
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Microphthalmia	OMIM:619053
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia	OMIM:610756
Fanconi Anemia, Complementation Group E	Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microphthalmia	OMIM:614105
Joubert Syndrome 37	Hepatomegaly, Microphthalmia	OMIM:619185
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Congenital Fibrinogen Deficiency	Splenic rupture, Microphthalmia	ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Fanconi Anemia, Complementation Group A	Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Optic nerve hypoplasia, Neutropenia, Microphthalmia	OMIM:609053
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Fanconi Anemia, Complementation Group C	Pancytopenia, Intrauterine growth retardation, Microphthalmia, Anemia, Reticulocytopenia, Neutrop...	OMIM:227645
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Leukopenia, Thrombocytopenia, Microphthalmia, Anemia	OMIM:603467
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia	OMIM:300863
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Congenital Disorder Of Glycosylation, Type Iiq	Elevated circulating hepatic transaminase concentration, Abnormal glycosylation	OMIM:617395
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Anophthalmia, Microphthalmia	ORPHA:2526
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:618804
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:228390
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Slc35A2-Cdg	Elevated circulating hepatic transaminase concentration, Decreased sialylation of O-linked protei...	ORPHA:356961
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Morgagni-Stewart-Morel Syndrome	Abnormal metabolism	ORPHA:77296
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Anemia, Dec...	ORPHA:90362
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Garg-Mishra Progeroid Syndrome	Microphthalmia, Microvesicular hepatic steatosis	OMIM:620601
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia	ORPHA:163966
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:494344
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
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	Abnormally large globe, Microphthalmia	OMIM:615249
Monosomy 18P	Microphthalmia	ORPHA:1598
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Rodrigues Blindness	Microphthalmia	OMIM:268320
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Moebius Syndrome	Microphthalmia	OMIM:157900
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1915
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Kenny-Caffey Syndrome, Type 2	Anemia, Microphthalmia	OMIM:127000
Fanconi Anemia, Complementation Group D2	Annular pancreas, Pancytopenia, Microphthalmia, Anemia, Reticulocytopenia, Neutropenia, Thrombocy...	OMIM:227646
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Stt3A-Cdg	Abnormal glycosylation	ORPHA:370921
Mosaic Trisomy 9	Intrauterine growth retardation, Spina bifida, Microphthalmia, Asplenia, Abnormal liver lobulation	ORPHA:99776
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia	OMIM:300166
Marden-Walker Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:248700
Fraser Syndrome 1	Myelomeningocele, Bilateral microphthalmos, Encephalocele, Anophthalmia	OMIM:219000
Atelis Syndrome 2	Anemia, Thrombocytopenia, Microphthalmia	OMIM:620185
Joubert Syndrome 14	Meningocele, Encephalocele, Microphthalmia	OMIM:614424
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Fanconi Anemia, Complementation Group N	Acute myeloid leukemia, Aplastic anemia, Microphthalmia	OMIM:610832
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Charge Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Umbilical hernia	ORPHA:138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia	ORPHA:2728
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Fanconi-Bickel Syndrome	Galactose intolerance, Hepatic failure, Elevated circulating aspartate aminotransferase concentra...	ORPHA:2088
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fanconi Anemia, Complementation Group L	Anemia, Intrauterine growth retardation, Microphthalmia	OMIM:614083
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Jacobsen Syndrome	Annular pancreas, Intrauterine growth retardation, Macular hypoplasia, Thrombocytopenia, Micropht...	OMIM:147791
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Micro Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2510
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Cohen Syndrome	Intrauterine growth retardation, Neutropenia, Microphthalmia	ORPHA:193
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Meckel Syndrome 14	Hepatic fibrosis, Occipital encephalocele, Microphthalmia	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Charge Syndrome	Umbilical hernia, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Microphthalmia	OMIM:214800
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Frontonasal Dysplasia 2	Intrauterine growth retardation, Encephalocele, Microphthalmia	OMIM:613451
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:251230
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia, Acute l...	OMIM:223370
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Fanconi Anemia	Umbilical hernia, Leukopenia, Intrauterine growth retardation, Abnormality of the liver, Aplasia/...	ORPHA:84
Incontinentia Pigmenti	Hypoplasia of the fovea, Eosinophilia, Leukocytosis, Microphthalmia	OMIM:308300
Mosaic Trisomy 1	Hepatic agenesis, Microphthalmia	ORPHA:1692
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Impairme...	OMIM:227810
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Degcags Syndrome	Reduced blood folate concentration, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, In...	OMIM:619488
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Umbilical hernia	OMIM:115470
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Eosinophilia, Umbilical hernia	ORPHA:464
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Intrauterine growth retardation, Bilateral microphthalmos	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Microphthalmia	OMIM:617729
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Focal Dermal Hypoplasia	Hypoplasia of the iris, Acute hepatic failure, Umbilical hernia, Spina bifida, Microphthalmia	ORPHA:2092
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Microphthalmia	ORPHA:464738
Branchiooculofacial Syndrome	Intrauterine growth retardation, Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Umbilical hernia, ...	ORPHA:33364
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia	OMIM:251300
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Oculo-Palato-Cerebral Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
1Q21.1 Microdeletion Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:250989
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Occipital encephalocele, Intrauterine...	OMIM:249000
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:364577
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Cockayne Syndrome B	Hypoplasia of the iris, Intrauterine growth retardation, Splenomegaly, Microphthalmia, Hepatomegaly	OMIM:133540
Trisomy 18	Intrauterine growth retardation, Anencephaly, Spina bifida, Microphthalmia	ORPHA:3380
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Acute lymphoblastic leukemia, Microphthalmia	ORPHA:1052
Oculocerebrorenal Syndrome Of Lowe	Umbilical hernia, Thrombocytopenia, Microphthalmia, Anemia, Buphthalmos, Decreased circulating vi...	ORPHA:534
Fraser Syndrome 2	Hypoplasia of the thymus, Microphthalmia	OMIM:617666
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Fryns Syndrome	Microphthalmia	ORPHA:2059
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Roberts Syndrome	Microphthalmia, Thrombocytopenia, Severe intrauterine growth retardation	ORPHA:3103
Cockayne Syndrome Type 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Microphthalmia	ORPHA:90324
Treacher-Collins Syndrome	Hypoplasia of the thymus, Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Histiocytoid Cardiomyopathy	Hepatomegaly, Congenital aphakia, Microphthalmia	ORPHA:137675
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
22Q11.2 Deletion Syndrome	Cholelithiasis, Umbilical hernia, Intrauterine growth retardation, Splenomegaly, Hypoplasia of th...	ORPHA:567
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Intrauterine growth retardation, Aplasia of the thymus, Microphthalmia, Prolonged...	OMIM:620186
Pallister-Hall Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:146510
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Intrauterine growth retardation, Annular pancreas, Microphthalmia	OMIM:616975
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Hallermann-Streiff Syndrome	Abdominal situs inversus, Microphthalmia	ORPHA:2108
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia	OMIM:268400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Microphthalmia	OMIM:617925
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Fryns Syndrome	Ectopic pancreatic tissue, Polysplenia, Microphthalmia	OMIM:229850
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Aicardi Syndrome	Hepatoblastoma, Spina bifida, Microphthalmia	OMIM:304050
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Aicardi Syndrome	Hepatoblastoma, Microphthalmia	ORPHA:50
Tetraamelia Syndrome 1	Asplenia, Microphthalmia	OMIM:273395
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Cockayne Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Microphthalmia	ORPHA:191
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Monosomy 13Q14	Intrauterine growth retardation, Microphthalmia	ORPHA:1587
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Myhre Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:139210
Hydrolethalus Syndrome 1	Accessory spleen, Intrauterine growth retardation, Anencephaly, Microphthalmia	OMIM:236680
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia	OMIM:608670
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800
Mend Syndrome	Microphthalmia	ORPHA:401973
Monosomy 9P	Microphthalmia	ORPHA:261112
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Fructose i...	OMIM:229600
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hemolytic anemia, Microphthalmia	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
Fontaine Progeroid Syndrome	Microphthalmia, Intrauterine growth retardation, Umbilical hernia	OMIM:612289
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Spina bif...	OMIM:256520
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia, Umbilical hernia	OMIM:619539
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Biliary tract abnormality, Frontal encephalocele, Microphthalmia, Severe intrau...	OMIM:268300
Witteveen-Kolk Syndrome	Intrauterine growth retardation, Branchial fistula, Microphthalmia	OMIM:613406
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Exocrine pancreatic insufficiency, Intrauterine growth ...	ORPHA:508488
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Pallister-Hall Syndrome	Microphthalmia, Intrauterine growth retardation, Umbilical hernia	ORPHA:672
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us