Gene Summary

Name:
solute carrier family 4 (anion exchanger), member 8
Synonyms:
KNBC-3,  NDCBE,  sodium bicarbonate cotransporter isoform 3 kNBC-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Slc4a8em1(IMPC)Mbp HOM Early adult 0.00
increased startle reflex Slc4a8em1(IMPC)Mbp HOM Early adult 3.01×10-06
microphthalmia Slc4a8em1(IMPC)Mbp HOM Early adult 0.00

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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.

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 Similarity of
phenotypes
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
Slc4a8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc4a8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc4a8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc4a8em1(IMPC)Mbp Exon Deletion Mice, Tissue

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