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Gene: Cox6b1 MGI:107460

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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
abnormal skin morphology Cox6b1em1(IMPC)Tcp HET Early adult 0.00
abnormal sinus arrhythmia Cox6b1em1(IMPC)Tcp HET Early adult 1.13×10-08
absent adrenal gland Cox6b1em1(IMPC)Tcp HET Early adult 0.00
microphthalmia Cox6b1em1(IMPC)Tcp HOM E12.5 0.00
long tibia Cox6b1em1(IMPC)Tcp HET   Early adult 8.38×10-05
abnormal embryo size Cox6b1em1(IMPC)Tcp HOM E12.5 0.00
preweaning lethality, complete penetrance Cox6b1em1(IMPC)Tcp HOM   Early adult 0.00
increased spleen weight Cox6b1em1(IMPC)Tcp HET Early adult 8.62×10-05

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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Gross Morphology Embryo E12.5

Images

14 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

3 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

1 Images

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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
Cardiomegaly, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension 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 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi... ORPHA:2502
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 Ii
Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal hyperplasia, ... ORPHA:404
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hypertension, ... ORPHA:403
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Femoral bowing, Tibial bowing, Short lower limbs, Metaphyseal... ORPHA:93356
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive prima... ORPHA:251274
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Mmep Syndrome
Microphthalmia ORPHA:3434
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:231580
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Meta... ORPHA:93317
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula... OMIM:615830
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Hyperaldosteronism OMIM:613677
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Delayed epiphyseal o... OMIM:600785
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Hypertension, Pulmonary arterial hypertension, Adrenal hyperplasia, E... ORPHA:369929
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fus... ORPHA:95699
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ... OMIM:605274
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Slender long bone, Congenital adrenal hyperplasia, Thrombocyt... ORPHA:96181
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Anemia, Lymphopenia, Abnormality of the pancreas, Long fibula ORPHA:935
Pierpont Syndrome
Microphthalmia ORPHA:487825
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Primary... ORPHA:189427
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Hip subluxation, Flared metaphysis, Epiphyseal stippling, Triangular shaped distal ... OMIM:271665
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Pierpont Syndrome
Microphthalmia OMIM:602342
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... OMIM:610442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Hypertension, ... ORPHA:786
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Temtamy Syndrome
Microphthalmia ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, D... OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Trisomy 13
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:228390
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... ORPHA:75565
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia ORPHA:2189
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Nance-Horan Syndrome
Microphthalmia ORPHA:627
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Seckel Syndrome 2
Microphthalmia OMIM:606744
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Cushing Disease
Decreased eosinophil count, Increased urinary cortisol level, Hypertension, Leukocytosis, Capilla... ORPHA:96253
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medu... ORPHA:99889
Rodrigues Blindness
Microphthalmia OMIM:268320
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia OMIM:616395
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Temtamy Syndrome
Microphthalmia OMIM:218340
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele ORPHA:1791
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Moebius Syndrome
Microphthalmia OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia, Hypoplastic pelvis OMIM:273395
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:248700
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele OMIM:614424
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... ORPHA:79500
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Micro Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2510
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Refsum Disease
Microphthalmia ORPHA:773
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Encephalocele OMIM:613451
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Adams-Oliver Syndrome
Microphthalmia, Encephalocele ORPHA:974
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Vacterl With Hydrocephalus
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida ORPHA:3412
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
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
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Mosaic Trisomy 9
Intrauterine growth retardation, Microphthalmia, Spina bifida ORPHA:99776
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2714
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia OMIM:603467
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele OMIM:253800
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:617729
Cohen Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris OMIM:251300
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele OMIM:264480
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Spina bifida, Hydranencephaly ORPHA:2839
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:250989
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia ORPHA:2092
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Trisomy 18
Intrauterine growth retardation, Microphthalmia, Anencephaly, Spina bifida ORPHA:3380
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia OMIM:227645
Jacobsen Syndrome
Intrauterine growth retardation, Microphthalmia, Macular hypoplasia OMIM:147791
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism ORPHA:2162
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Dubowitz Syndrome
Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris OMIM:223370
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida OMIM:234100
Cousin Syndrome
Microphthalmia, Hydranencephaly OMIM:260660
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Fryns Syndrome
Microphthalmia ORPHA:2059
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Papillorenal Syndrome
Microphthalmia OMIM:120330
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Encephalocele OMIM:616300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Anophthalmia OMIM:601186
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia OMIM:614083
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia 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
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Atelis Syndrome 2
Microphthalmia OMIM:620185
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Spina bifida ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1052
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Cockayne Syndrome B
Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris OMIM:133540
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:620005
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia OMIM:616975
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Fanconi Anemia
Microphthalmia, Spina bifida, Umbilical hernia, Intrauterine growth retardation, Aplasia/Hypoplas... ORPHA:84
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia ORPHA:1587
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Steinfeld Syndrome
Microphthalmia OMIM:184705
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fraser Syndrome 2
Microphthalmia OMIM:617666
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
22Q11.2 Deletion Syndrome
Microphthalmia, Meningocele, Spina bifida, Umbilical hernia, Intrauterine growth retardation ORPHA:567
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda... OMIM:249000
Myhre Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:139210
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Umbilical hernia ORPHA:534
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial cyst OMIM:620186
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Aicardi Syndrome
Microphthalmia ORPHA:50
Traboulsi Syndrome
Microphthalmia OMIM:601552
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia OMIM:610829
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia, Umbilical hernia OMIM:300166
Mend Syndrome
Microphthalmia ORPHA:401973
Monosomy 9P
Microphthalmia ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Charge Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Umbilical hernia ORPHA:138
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:619488
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Small placenta, Hydranencephaly, Spina bifida, Intrauterine... OMIM:256520
Cockayne Syndrome
Microphthalmia ORPHA:191
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Microphthalmia, Umbilical hernia OMIM:612289
Fryns Syndrome
Microphthalmia OMIM:229850
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia OMIM:305600
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele OMIM:100300
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial fistula OMIM:613406
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Anophthalmia, Umbilical hernia OMIM:214800
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Intrauterine growth retar... ORPHA:508488
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Microphthalmia, Anophthalmia OMIM:113620
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Umbilical hernia ORPHA:672
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
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
Microphthalmia, Hypoplasia of the iris OMIM:175780
Roberts-Sc Phocomelia Syndrome
Frontal encephalocele, Microphthalmia, Severe intrauterine growth retardation OMIM:268300
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, 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
Cardiomegaly, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension 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.

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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

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