Gene Summary

acyl-CoA thioesterase 3
Pte2a,  PTE-Ia

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 Acot3em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Acot3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Acot3em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Acot3em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Acot3em1(IMPC)Mbp HOM Early adult 5.66×10-08

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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.


XRay Images Whole Body Lateral Orientation

12 Images


XRay Images Whole Body Dorso Ventral

37 Images

Human diseases caused by Acot3 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 Acot3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Microphthalmia ORPHA:35612
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Microphthalmia ORPHA:195
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Faciothoracogenital Syndrome
Microphthalmia, Glandular hypospadias OMIM:227320
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:615415
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnorma... ORPHA:2547
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Progressive psychomotor deterioration, Membranoproliferative glomeruloneph... ORPHA:251004
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Mmep Syndrome
Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Meckel Syndrome, Type 8
Anophthalmia, Hyperechogenic kidneys, Microphthalmia OMIM:613885
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unilateral microph... ORPHA:137902
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Cognitive impairment, Microphthalmia ORPHA:858
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... OMIM:120330
Norrie Disease
Aggressive behavior, Dementia, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria OMIM:619053
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency... OMIM:208540
Bresek Syndrome
Renal hypoplasia, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia, Hypoplasia of the blad... ORPHA:85284
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Warburg Micro Syndrome 4
Micropenis, Microphthalmia OMIM:615663
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232220
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Anophthalmia, Vesicoureteral reflux ORPHA:2470
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Microphthalmia, Anophthalmia, Cognitive impairment, Ap... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia, Cognitive impairment OMIM:615181
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia, Self-injurious behavior, Aggressive behavior OMIM:618914
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Joubert Syndrome 14
Irritability, Microphthalmia, Renal cyst OMIM:614424
Cofs Syndrome
Microphthalmia ORPHA:1466
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Pierpont Syndrome
Micropenis, Microphthalmia OMIM:602342
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
17Q12 Microduplication Syndrome
Self-injurious behavior, Microphthalmia ORPHA:261272
H Syndrome
Micropenis, Hepatosplenomegaly, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Warburg Micro Syndrome 3
Micropenis, Microphthalmia OMIM:614222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, P... ORPHA:505248
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Pierpont Syndrome
Microphthalmia ORPHA:487825
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Irritability, Hypoplasia of the b... ORPHA:79328
Autosomal Recessive Polycystic Kidney Disease
Cognitive impairment, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infec... ORPHA:731
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Optic nerve hypoplasia, Abnormal renal morpho... OMIM:609053
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Nephrocalcinosis, Cognitive impairment, Tubulointerstitial fibrosis, Stage 5 chroni... ORPHA:79259
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst OMIM:603194
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Joubert Syndrome 37
Hepatomegaly, Micropenis, Microphthalmia, Hydronephrosis OMIM:619185
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly ORPHA:290
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Microphthalmia OMIM:616734
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Microphthalmia ORPHA:1438
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Temtamy Syndrome
Microphthalmia ORPHA:1777
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Microphthalmia OMIM:614083
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomegaly, Nephrolithiasis, Splenom... ORPHA:116
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Self-injurious behavior, Microphthalmia, Vesicoureteral reflux ORPHA:494344
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney ORPHA:500095
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Micropenis, Microphthalmia OMIM:610125
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia, Hypospadias OMIM:615877
Meckel Syndrome, Type 5
Abnormality of the urinary system, Microphthalmia OMIM:611561
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux OMIM:120200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hypoplasia of penis, Microphthalmia, Hypospadias ORPHA:77298
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Microphthalmia, Self-injurious behavior, Renal hypoplasia/aplasia, H... ORPHA:568
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Aggressive behavior, Microphthalmia OMIM:152950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst OMIM:611134
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia, Aggressive behavior, Anxiety ORPHA:65286
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney ORPHA:508
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Micropenis, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Myoclonic-Astatic Epilepsy
Microphthalmia, Abnormal emotion/affect behavior ORPHA:1942
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Micropenis, Microphthalmia OMIM:248700
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Microphthalmia, Duplicated collecting system, Abnormal renal mo... OMIM:600901
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Microphthalmia, Hypoplasia of the iris OMIM:613001
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Duane-Radial Ray Syndrome
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Microphthalmia, Renal agenesis, Renal malrota... OMIM:607323
Refsum Disease
Renal insufficiency, Microphthalmia, Splenomegaly ORPHA:773
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Microphthalmia, Duplicated collecting system, Abnormal renal mo... OMIM:227650
Baraitser-Winter Syndrome 1
Micropenis, Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphthalmia, Pelvic kidney, Vesicoureteral reflux, Microphallus OMIM:603467
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Microphthalmia ORPHA:2728
Spondyloepiphyseal Dysplasia, Nishimura Type
Oligosacchariduria, Microphthalmia ORPHA:163649
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Microphthalmia OMIM:611961
Moebius Syndrome
Micropenis, Microphthalmia OMIM:157900
Gracile Bone Dysplasia
Aniridia, Micropenis, Microphthalmia OMIM:602361
Fetal Alcohol Syndrome
Cognitive impairment, Microphthalmia ORPHA:1915
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia, Vesicoureteral reflux OMIM:600123
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis, Microphthalmia ORPHA:2510
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis OMIM:206900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Monosomy 18P
Microphthalmia ORPHA:1598
Galloway-Mowat Syndrome 3
Microphthalmia, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse... OMIM:617729
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Kapur-Toriello Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2328
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Renal malrotation, Anophthalmia, Pelvic kidne... OMIM:601186
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Microphthalmia, Aggressive behavior, Left ventricular hypertrophy, Penoscrotal trans... OMIM:619148
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Micropenis, Renal agenesis, Microphthalmia OMIM:264480
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Microphthalmia, Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/apla... ORPHA:959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anxiety, Microphthalmia ORPHA:404440
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Microphthalmia, Renal dysplasia, Multiple renal cysts, Hypoplas... ORPHA:99776
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Joubert Syndrome 2
Abnormal renal physiology, Microphthalmia, Nephronophthisis, Renal cyst OMIM:608091
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Anophthalmia, Microphthalmia ORPHA:2189
Warburg Micro Syndrome 2
Micropenis, Microphthalmia OMIM:614225
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Microphthalmia, Renal dysplasia, Renal cyst, Micropenis, Distal... OMIM:146510
Mosaic Trisomy 1
Renal cortical cysts, Microphthalmia, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Microphthalmia, Hypoplasia of the iris, Cognitive impairment, M... ORPHA:2092
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Splenomegal... OMIM:312870
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Hepatomegaly, Microphthalmia, Urinary retention, Cognitive impa... ORPHA:90324
Stromme Syndrome
Bilateral renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia ORPHA:2505
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cat Eye Syndrome
Renal agenesis, Microphthalmia OMIM:115470
Rodrigues Blindness
Microphthalmia OMIM:268320
Walker-Warburg Syndrome
Anophthalmia, Hypoplasia of penis, Microphthalmia ORPHA:899
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Renal agenesis, Microphthalmia, Duplicated collecting system, Ectopic kidney OMIM:227645
Craniofacial Microsomia
Renal agenesis, Microphthalmia, Anophthalmia, Multicystic kidney dysplasia, Ureteropelvic junctio... OMIM:164210
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Hepatomegaly, Renal agenesis, Microphthalmia, Anophthalmia, Renal dysplasia, Mu... ORPHA:2538
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Renal agenesis, Microphthalmia, Pelvic kidney, Duplicated collecting system, Re... OMIM:227646
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Martsolf Syndrome 1
Micropenis, Microphthalmia OMIM:212720
Fryns Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Multicystic kidney dysplasia, Vesicoureteral reflux ORPHA:2059
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Male urethral meatus stenosis, Aggressive behavior ORPHA:464738
Kapur-Toriello Syndrome
Abnormality of the urinary system, Micropenis, Microphthalmia OMIM:244300
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Xeroderma Pigmentosum, Complementation Group D
Mental deterioration, Microphthalmia OMIM:278730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Microphthalmia, Nephrotic syndrome, Hypoplasia of the iris, D... OMIM:251300
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Microphthalmia OMIM:193220
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Microphthalmia, Renal cyst OMIM:616300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Bilateral microphthalmos ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
1Q21.1 Microdeletion Syndrome
Anxiety, Hydronephrosis, Microphthalmia, Vesicoureteral reflux ORPHA:250989
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
Trisomy 18
Hydronephrosis, Microphthalmia, Abnormality of the upper urinary tract, Cognitive impairment ORPHA:3380
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Vacterl With Hydrocephalus
Anophthalmia, Renal hypoplasia/aplasia, Renal agenesis, Microphthalmia ORPHA:3412
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:284160
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Nephrocalcinosis, Self-injurious behavior, Hematuria, Nephrolithiasi... ORPHA:534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Horseshoe kidney, Renal hypoplasia, Renal agenesis, Microphthalmia, Pelvic kidney, O... ORPHA:508498
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Hypoplasia of penis, Microphthalmia ORPHA:2250
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Cognitive impairment, Microphthalmia ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cockayne Syndrome
Renal hypoplasia, Hepatomegaly, Microphthalmia, Nephrotic syndrome, Abnormal renal physiology, Co... ORPHA:191
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Self-injurious behavior, Pelvic kidney, Optic nerve hypoplasia, Abnormal renal colle... ORPHA:468631
Microphthalmia, Hypoplasia of penis, Anophthalmia, Abnormality of the urinary system, Cognitive i... ORPHA:2162
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Hypoplasi... ORPHA:2166
Meckel Syndrome
Ureteral duplication, Microphthalmia, Anophthalmia, Urethral atresia, Aplasia/Hypoplasia of the i... ORPHA:564
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Histiocytoid Cardiomyopathy
Hepatomegaly, Microphthalmia, Congenital aphakia, Cardiomegaly, Renal cyst ORPHA:137675
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Persistent Hyperplastic Primary Vitreous
Macular hypoplasia, Buphthalmos, Phthisis bulbi, Microphthalmia ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Micropenis, Microphthalmia, Chordee OMIM:309801
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Microphthalmia, Aggressive behavior, Proximal renal tu... OMIM:309000
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Steinfeld Syndrome
Unilateral renal dysplasia, Microphthalmia OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Renal dysplasia, Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Fanconi Anemia
Hypospadias, Microphthalmia, Abnormality of the urinary system, Abnormal localization of kidney, ... ORPHA:84
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos OMIM:618874
Dubowitz Syndrome
Hypospadias, Microphthalmia, Hypoplasia of the iris OMIM:223370
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Meckel Syndrome, Type 1
Abnormality of the ureter, Microphthalmia, Renal agenesis, Splenomegaly, Polycystic kidney dyspla... OMIM:249000
Jacobsen Syndrome
Hypospadias, Macular hypoplasia, Microphthalmia OMIM:147791
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Microphthalmia, Renal cyst, Vesicoureteral reflux OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Cockayne Syndrome B
Hepatomegaly, Microphthalmia, Hypoplasia of the iris, Splenomegaly, Micropenis, Proteinuria, Rena... OMIM:133540
Degcags Syndrome
Hypospadias, Bilateral renal hypoplasia, Renal hypoplasia, Hepatomegaly, Microphthalmia, Chordee,... OMIM:619488
Microphthalmia ORPHA:391474
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Microphthalmia, Nephroblastoma ORPHA:1052
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesis, Unilateral renal agenesi... ORPHA:141099
Incontinentia Pigmenti
Cognitive impairment, Microphthalmia ORPHA:464
Renpenning Syndrome 1
Hypospadias, Renal hypoplasia, Microphthalmia, Phimosis, Anxiety OMIM:309500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia ORPHA:3186
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Microphthalmia, Splenomegaly, Polycystic kidney dysplasia, Multipl... ORPHA:567
Fryns Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Microphthalmia, Renal agenesis, Renal cyst OMIM:229850
Cohen Syndrome
Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Phthisis bulbi, Microphthalmia OMIM:612109
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Micropenis, Microphthalmia OMIM:603457
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Monosomy 9Q22.3
Nephroblastoma, Microphthalmia ORPHA:77301
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Microphthalmia OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Urethral valve, Microphthalmia, Multiple renal cysts, Vesicoureter... ORPHA:857
Witteveen-Kolk Syndrome
Hypospadias, Microphthalmia, Aggressive behavior, Conspicuously happy disposition, Micropenis, Mi... OMIM:613406
Roberts Syndrome
Polycystic kidney dysplasia, Microphthalmia, Long penis ORPHA:3103
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Micropenis, Microphthalmia OMIM:610829
Fraser Syndrome
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Urethral atresia, Multicystic kidney... ORPHA:2052
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Bartsocas-Papas Syndrome 1
Ectopic kidney, Micropenis, Microphthalmia OMIM:263650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Microphthalmia OMIM:617925
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Horseshoe kidney, Micropenis, Microphthalmia OMIM:609945
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Monosomy 9P
Hypospadias, Ureteropelvic junction obstruction, Microphthalmia ORPHA:261112
Treacher-Collins Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:861
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Microphthalmia, Anophthalmia, Micropenis, Vesicoureteral reflux ORPHA:138
Microphthalmia With Limb Anomalies
True anophthalmia, Horseshoe kidney, Microphthalmia ORPHA:1106
Mend Syndrome
Aggressive behavior, Microphthalmia ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Abnormal penis morphology, Microphthalmia, Anophthalmia, Epispadias ORPHA:2556
Focal Dermal Hypoplasia
Horseshoe kidney, Ureteral duplication, Hydronephrosis, Microphthalmia, Anophthalmia, Aniridia, B... OMIM:305600
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Microphthalmia, Renal agenesis, Anophthalmia,... OMIM:214800
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Yunis-Varon Syndrome
Hypospadias, Microphthalmia, Renovascular hypertension, Cardiomegaly, Micropenis, Bilateral micro... ORPHA:3472
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Bilateral microphthalmos ORPHA:33364
Aicardi Syndrome
Microphthalmia ORPHA:50
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Aicardi Syndrome
Microphthalmia OMIM:304050
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Anophthalmia, Renal hypoplasia/aplasia, Micropenis, Bilateral micr... OMIM:219000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Microphthalmia, Syndromic 2
Anophthalmia, Phthisis bulbi, Microphthalmia, Hypospadias OMIM:300166
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Microphthalmia OMIM:236680
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Micropenis, Microphthalmia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Self-injurious behavior, ... ORPHA:649
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Aggressive behavior, Self-mutilation... OMIM:309800
Holoprosencephaly 2
Microphthalmia OMIM:157170
Pallister-Hall Syndrome
Hypospadias, Microphthalmia, Renal dysplasia, Bilateral renal agenesis, Micropenis, Unilateral re... ORPHA:672
Microphthalmia, Syndromic 6
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Micropenis OMIM:607932
Mowat-Wilson Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Happy demeanor, Chordee, Pelvic kidney, Renal duplic... ORPHA:2152
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Mowat-Wilson Syndrome
Hypospadias, Happy demeanor, Microphthalmia, Abnormality of the kidney OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Hydronephrosis, Microphthalmia, Happy demeanor, Chordee, Pelvic kidney, Renal duplic... ORPHA:261537
Monosomy 13Q14
Microphthalmia ORPHA:1587
Neuroocular Syndrome
Anxiety, Lens coloboma, Microphthalmia, Hypoplasia of the fovea OMIM:619539
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Microphthalmia, Anophthalmia, Renal cyst OMIM:113620
Neu-Laxova Syndrome 1
Renal agenesis, Microphthalmia OMIM:256520
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Hydronephrosis, Microphthalmia, Happy demeanor, Chordee, Pelvic kidney, Renal duplic... ORPHA:261552
Roberts-Sc Phocomelia Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia, Long penis, Polycystic kidney dysplasia OMIM:268300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Pelvic kidney, Optic nerve hypoplasia, Low frustration tolerance, Uni... ORPHA:508488
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500


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 Acot3

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 Acot3.

No publications found that use IMPC mice or data for Acot3.

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MGI Allele Allele Type Produced
Acot3tm45747(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acot3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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