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Gene: Slc4a8 MGI:1928745

Gene Summary

Name:

solute carrier family 4 (anion exchanger), member 8

Synonyms:

KNBC-3, NDCBE, sodium bicarbonate cotransporter isoform 3 kNBC-3

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
microphthalmia	Slc4a8^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Slc4a8^em1(IMPC)Mbp	HOM	Early adult	3.01×10^-06
abnormal eye morphology	Slc4a8^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc4a8 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 Slc4a8 (0 diseases)
Human diseases predicted to be associated with Slc4a8 (484 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc4a8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Gombo Syndrome	Microphthalmia	OMIM:233270
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nanophthalmos	Microphthalmia	ORPHA:35612
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia	OMIM:278780
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Mmep Syndrome	Microphthalmia	ORPHA:3434
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia, Dystonia	OMIM:308350
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Intention tremor	ORPHA:48431
Cofs Syndrome	Microphthalmia	ORPHA:1466
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Pierpont Syndrome	Microphthalmia	OMIM:602342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Lissencephaly 8	Microphthalmia	OMIM:617255
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Dystonia	OMIM:614105
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Monosomy 18P	Microphthalmia, Generalized dystonia	ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Myoclonic-Astatic Epilepsy	Tremor, Microphthalmia	ORPHA:1942
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Congenital Fibrinogen Deficiency	Microphthalmia, Opisthotonus	ORPHA:335
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Temtamy Syndrome	Microphthalmia	OMIM:218340
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Moebius Syndrome	Microphthalmia	OMIM:157900
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Microphthalmia	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Exaggerated startle response	OMIM:253800
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Refsum Disease	Microphthalmia	ORPHA:773
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Dystonia	OMIM:251300
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Frontorhiny	Microphthalmia	ORPHA:391474
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Hallermann-Streiff Syndrome	Choreoathetosis, Microphthalmia	OMIM:234100
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Holoprosencephaly	Microphthalmia, Anophthalmia, Dystonia	ORPHA:2162
Fryns Syndrome	Microphthalmia	ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Cousin Syndrome	Microphthalmia	OMIM:260660
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Trisomy 18	Microphthalmia	ORPHA:3380
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Tremor	OMIM:133540
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Trichothiodystrophy	Bilateral microphthalmos, Intention tremor	ORPHA:33364
Treacher-Collins Syndrome	Blepharospasm, Microphthalmia	ORPHA:861
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Cockayne Syndrome Type 3	Microphthalmia, Intention tremor	ORPHA:90324
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Torticollis	OMIM:609945
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Cockayne Syndrome	Intention tremor, Microphthalmia, Action tremor	ORPHA:191
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Aicardi Syndrome	Microphthalmia	OMIM:304050
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Fryns Syndrome	Microphthalmia	OMIM:229850
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia	OMIM:300166
Degcags Syndrome	Microphthalmia	OMIM:619488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Microphthalmia	OMIM:612474
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Dystonia, Limb dystonia	OMIM:175780
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos	OMIM:214800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia	ORPHA:438213
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 Slc4a8

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 Slc4a8.

No publications found that use IMPC mice or data for Slc4a8.

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
Slc4a8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Slc4a8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc4a8^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc4a8^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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