banner
Genes Phenotypes Help, News, Blog

Gene: Cox6b1 MGI:107460

Log in to follow

Gene Summary

Name:
cytochrome c oxidase, subunit 6B1
Synonyms:
2010000G05Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Cox6b1em1(IMPC)Tcp HOM   Early adult 0.00
decreased blood urea nitrogen level Cox6b1em1(IMPC)Tcp HET Early adult 6.00×10-05
microphthalmia Cox6b1em1(IMPC)Tcp HOM E12.5 0.00
absent adrenal gland Cox6b1em1(IMPC)Tcp HET Early adult 0.00
abnormal embryo size Cox6b1em1(IMPC)Tcp HOM E12.5 0.00
increased spleen weight Cox6b1em1(IMPC)Tcp HET Early adult 8.62×10-05
long tibia Cox6b1em1(IMPC)Tcp HET   Early adult 8.13×10-05
abnormal skin morphology Cox6b1em1(IMPC)Tcp HET Early adult 0.00
abnormal sinus arrhythmia Cox6b1em1(IMPC)Tcp HET Early adult 1.13×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

5 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Gross Morphology Embryo E12.5

Images

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Histopathology

Images

3 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

4 Images

View images
Eye Morphology

Images Slit Lamp

6 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Electrocardiogram (ECG)

Waveform Image

1 Images

View images

Human diseases caused by Cox6b1 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.

The table below shows human diseases associated to Cox6b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly, Tricuspid regurgitation OMIM:619051

The table below shows human diseases predicted to be associated to Cox6b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... ORPHA:1802
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Nanophthalmos 4
Microphthalmia OMIM:615972
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... OMIM:103900
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypertension, Adr... ORPHA:404
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a... ORPHA:403
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... ORPHA:251274
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:201910
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Mmep Syndrome
Microphthalmia ORPHA:3434
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation OMIM:616171
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Myocarditis, Short metacarpal, Atrioventricular block, Metaphyseal chondro... ORPHA:93317
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism... OMIM:615830
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Hypertension, Intracranial hemorrhage, Adren... ORPHA:369929
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1466
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Hypertension, Adrenal hyperplasia OMIM:613677
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Humeroradial synostosis, Decr... ORPHA:95699
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele OMIM:164180
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Hartsfield Syndrome
Microphthalmia, Encephalocele, Intrauterine growth retardation ORPHA:2117
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... ORPHA:96181
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Meckel Syndrome, Type 8
Microphthalmia, Occipital encephalocele, Encephalocele, Anophthalmia OMIM:613885
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:48431
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation ORPHA:858
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short 5th metacarpal, Splenomegaly, Spherocytosis ORPHA:66518
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... ORPHA:90791
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Pierpont Syndrome
Microphthalmia ORPHA:487825
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia OMIM:604229
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Abnormality of the pancreas, Lymphopenia, Long fibula, Abnormal metaphysis morphology ORPHA:935
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation ORPHA:290
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... OMIM:610442
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Temtamy Syndrome
Microphthalmia ORPHA:1777
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Intrauterine growth retardation OMIM:610756
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia OMIM:136760
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Autosomal Dominant Keratitis
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... ORPHA:2334
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Jaundice,... ORPHA:90790
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Bresek Syndrome
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia ORPHA:85284
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia OMIM:610256
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation OMIM:300863
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Seckel Syndrome 2
Microphthalmia OMIM:606744
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Anophthalmia ORPHA:3378
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Hydrolethalus
Microphthalmia, Anencephaly, Arrhinencephaly, Anophthalmia ORPHA:2189
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Arrhinencephaly, Intrauterine growth retardation, Optic nerve hypoplasia OMIM:617914
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele, Intrauterine growth retardation ORPHA:228390
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia ORPHA:2470
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Proximal tibial hypoplasia, Duplication of pha... OMIM:236680
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Intrauterine growth retardation ORPHA:163966
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Capillary fragility, ... ORPHA:96253
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:494344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Fanconi Anemia, Complementation Group I
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia OMIM:609053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Capillary fragility, Atypic... ORPHA:99889
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Joubert Syndrome 37
Microphthalmia OMIM:619185
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Intrauterine growth retardation OMIM:616395
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1915
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Temtamy Syndrome
Microphthalmia OMIM:218340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Moebius Syndrome
Microphthalmia OMIM:157900
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Tetraamelia Syndrome 1
Asplenia, Hypoplastic pelvis, Adrenal gland agenesis OMIM:273395
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Joubert Syndrome 14
Meningocele, Encephalocele, Microphthalmia OMIM:614424
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation ORPHA:2728
Marden-Walker Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:248700
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Doors Syndrome
Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypoplasia of the phal... ORPHA:79500
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Frontorhiny
Basal encephalocele, Encephalocele, Cranium bifidum occultum, Microphthalmia ORPHA:391474
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Intrauterine growth retardation OMIM:610758
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Refsum Disease
Microphthalmia ORPHA:773
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Micro Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2510
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Arrhinencephaly, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Microphthalmia OMIM:619148
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Frontonasal Dysplasia 2
Microphthalmia, Encephalocele, Intrauterine growth retardation OMIM:613451
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Persistent Hyperplastic Primary Vitreous
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi ORPHA:91495
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Nance-Horan Syndrome
Microphthalmia OMIM:302350
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Mosaic Trisomy 9
Spina bifida, Microphthalmia, Intrauterine growth retardation ORPHA:99776
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:193
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2714
Oculoauricular Syndrome
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:617729
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation OMIM:603467
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Microphthalmia OMIM:601707
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation OMIM:251300
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Meningoencephalocele, Optic nerve hypoplasia, Buphthalmos, Microphthalmia, Occipital encephalocele OMIM:236670
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Bilateral microphthalmos ORPHA:2839
Duane-Radial Ray Syndrome
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:364577
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Focal Dermal Hypoplasia
Spina bifida, Hypoplasia of the iris, Microphthalmia, Umbilical hernia ORPHA:2092
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Trisomy 18
Spina bifida, Anencephaly, Microphthalmia, Intrauterine growth retardation ORPHA:3380
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
1Q21.1 Microdeletion Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:250989
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation OMIM:227645
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia, Intrauterine growth retardation OMIM:147791
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia ORPHA:2162
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation OMIM:223370
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Micro... OMIM:609049
Papillorenal Syndrome
Microphthalmia OMIM:120330
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fryns Syndrome
Microphthalmia ORPHA:2059
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia OMIM:616300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Hallermann-Streiff Syndrome
Spina bifida, Microphthalmia OMIM:234100
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Incontinentia Pigmenti
Spina bifida occulta, Microphthalmia, Umbilical hernia ORPHA:464
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia OMIM:601186
Pallister-Hall Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:146510
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Fanconi Anemia, Complementation Group L
Microphthalmia, Intrauterine growth retardation OMIM:614083
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia ORPHA:2166
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Microphthalmia ORPHA:564
Basal Cell Nevus Syndrome 1
Spina bifida, Microphthalmia OMIM:109400
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Arrhinencephaly, Anophthalmia ORPHA:2538
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1052
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Intrauterine growth retardation OMIM:616975
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:620005
Cockayne Syndrome B
Microphthalmia, Hypoplasia of the iris, Intrauterine growth retardation OMIM:133540
Trichothiodystrophy
Bilateral microphthalmos, Intrauterine growth retardation, Umbilical hernia ORPHA:33364
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation ORPHA:1587
Steinfeld Syndrome
Microphthalmia OMIM:184705
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
22Q11.2 Deletion Syndrome
Meningocele, Spina bifida, Arrhinencephaly, Occipital myelomeningocele, Microphthalmia, Intrauter... ORPHA:567
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Um... ORPHA:84
Microphthalmia With Limb Anomalies
Arrhinencephaly, Microphthalmia, True anophthalmia ORPHA:1106
Holoprosencephaly 7
Bilateral microphthalmos, Occipital meningocele, Microphthalmia OMIM:610828
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Aicardi Syndrome
Spina bifida, Microphthalmia OMIM:304050
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Meckel Syndrome, Type 1
Anencephaly, Microphthalmia, Large placenta, Occipital encephalocele, Intrauterine growth retarda... OMIM:249000
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Phace Syndrome
Lens coloboma, Microphthalmia, Optic nerve hypoplasia ORPHA:42775
Myhre Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:139210
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Umbilical hernia ORPHA:534
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation OMIM:608670
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Intrauterine growth retardation, Optic nerve hypoplasia ORPHA:468631
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Fryns Syndrome
Arrhinencephaly, Microphthalmia OMIM:229850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia OMIM:300166
Charge Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia ORPHA:138
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Degcags Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Fontaine Progeroid Syndrome
Microphthalmia, Intrauterine growth retardation, Umbilical hernia OMIM:612289
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Intrauterine growth retardation ORPHA:93325
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Hydranencephaly, Microphthalmia, Small placenta, Intrauterine... OMIM:256520
Cockayne Syndrome
Microphthalmia ORPHA:191
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Focal Dermal Hypoplasia
Myelomeningocele, Anophthalmia, Spina bifida occulta, Microphthalmia, Umbilical hernia, Aniridia OMIM:305600
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Fraser Syndrome
Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Umbilical hernia ORPHA:2052
Yunis-Varon Syndrome
Bilateral microphthalmos, Arrhinencephaly, Microphthalmia ORPHA:3472
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Umbilical hernia, Lens coloboma OMIM:619539
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Witteveen-Kolk Syndrome
Microphthalmia, Branchial fistula, Intrauterine growth retardation OMIM:613406
Charge Syndrome
Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Microphthalmia, Umbilical hernia OMIM:214800
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia OMIM:219000
Pallister-Hall Syndrome
Microphthalmia, Arrhinencephaly, Intrauterine growth retardation, Umbilical hernia ORPHA:672
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growth retardation OMIM:113620
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Spina bifida occulta, Bilateral microphthalmos, Branchial cyst, Intrauter... ORPHA:508488
Norrie Disease
Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Roberts-Sc Phocomelia Syndrome
Frontal encephalocele, Microphthalmia, Severe intrauterine growth retardation OMIM:268300
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 1
Microphthalmia OMIM:236100
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia
Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia OMIM:164210
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
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly, Tricuspid regurgitation OMIM:619051

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 Cox6b1

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 Cox6b1.

No publications found that use IMPC mice or data for Cox6b1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cox6b1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cox6b1em1(IMPC)Tcp Exon Deletion Mice, Tissue
Cox6b1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter