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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
abnormal eye morphology	Slc4a8^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Slc4a8^em1(IMPC)Mbp	HOM	Early adult	1.05×10^-05

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 (490 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, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Gombo Syndrome	Microphthalmia	OMIM:233270
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Nanophthalmos	Microphthalmia	ORPHA:35612
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia	OMIM:278780
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Renal tubular ...	OMIM:162000
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Familial Renal Glucosuria	Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections	ORPHA:69076
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
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
Mmep Syndrome	Microphthalmia	ORPHA:3434
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a...	ORPHA:411536
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability	OMIM:614227
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Developmental And Epileptic Encephalopathy 1	Dystonia, Choreoathetosis, Microphthalmia	OMIM:308350
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cofs Syndrome	Microphthalmia	ORPHA:1466
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intention tremor, Microphthalmia	ORPHA:48431
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Pierpont Syndrome	Microphthalmia	OMIM:602342
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
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, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Lissencephaly 8	Microphthalmia	OMIM:617255
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	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
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Dystonia, Microphthalmia	OMIM:614105
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Monosomy 18P	Generalized dystonia, Microphthalmia	ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Myoclonic-Astatic Epilepsy	Tremor, Microphthalmia	ORPHA:1942
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:3378
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Congenital Fibrinogen Deficiency	Opisthotonus, Microphthalmia	ORPHA:335
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
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
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Temtamy Syndrome	Microphthalmia	OMIM:218340
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Moebius Syndrome	Microphthalmia	OMIM:157900
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Exaggerated startle response	OMIM:253800
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Microphthalmia	OMIM:278730
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Refsum Disease	Microphthalmia	ORPHA:773
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
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Micro Syndrome	Microphthalmia	ORPHA:2510
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Tremor, Exaggerated startle response	OMIM:615574
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Dystonia, Microphthalmia	OMIM:251300
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Frontorhiny	Microphthalmia	ORPHA:391474
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Hallermann-Streiff Syndrome	Choreoathetosis, Microphthalmia	OMIM:234100
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Cohen Syndrome	Microphthalmia	ORPHA:193
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Fryns Syndrome	Microphthalmia	ORPHA:2059
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Holoprosencephaly	Dystonia, Anophthalmia, Microphthalmia	ORPHA:2162
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Optic nerve hypoplasia, Microphthalmia	OMIM:236670
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Cousin Syndrome	Microphthalmia	OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Trisomy 18	Microphthalmia	ORPHA:3380
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Cockayne Syndrome B	Hypoplasia of the iris, Tremor, Microphthalmia	OMIM:133540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Cockayne Syndrome Type 3	Intention tremor, Microphthalmia	ORPHA:90324
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Trichothiodystrophy	Intention tremor, Bilateral microphthalmos	ORPHA:33364
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:508498
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Treacher-Collins Syndrome	Blepharospasm, Microphthalmia	ORPHA:861
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Histiocytoid Cardiomyopathy	Congenital aphakia, Microphthalmia	ORPHA:137675
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Microphthalmia	OMIM:609945
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Cockayne Syndrome	Microphthalmia, Action tremor, Intention tremor	ORPHA:191
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:564
Fraser Syndrome 2	Microphthalmia	OMIM:617666
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	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Aicardi Syndrome	Microphthalmia	OMIM:304050
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Myhre Syndrome	Microphthalmia	OMIM:139210
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Fryns Syndrome	Microphthalmia	OMIM:229850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 2	Phthisis bulbi, Anophthalmia, Microphthalmia	OMIM:300166
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Degcags Syndrome	Microphthalmia	OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Microphthalmia	OMIM:612474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Charge Syndrome	Anophthalmia, Microphthalmia	ORPHA:138
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, Dystonia, Limb dystonia, Microphthalmia	OMIM:175780
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Focal Dermal Hypoplasia	Aniridia, Anophthalmia, Microphthalmia	OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia	OMIM:619539
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Charge Syndrome	Unilateral microphthalmos, Anophthalmia, Microphthalmia	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Dystonia, Exaggerated startle response	ORPHA:438213
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Branchiooculofacial Syndrome	Anophthalmia, Microphthalmia	OMIM:113620
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
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	Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	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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