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Gene: Ccdc186 MGI:2445022

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Gene Summary

Name:
coiled-coil domain containing 186
Synonyms:
Otg1,  A630007B06Rik,  1810028B20Rik

Order Alleles

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 placenta morphology Ccdc186em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Ccdc186em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Ccdc186em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Ccdc186em1(IMPC)Mbp HOM E15.5 0.00
hemorrhage Ccdc186em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Ccdc186em1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Ccdc186em1(IMPC)Mbp HOM E15.5 0.00
edema Ccdc186em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Ccdc186em1(IMPC)Mbp HET E15.5 0.00
abnormal eye morphology Ccdc186em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Ccdc186em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

19 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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Human diseases caused by Ccdc186 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 Ccdc186 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 Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Edema OMIM:616570
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele OMIM:218670
Mmep Syndrome
Microphthalmia ORPHA:3434
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia, Ascites ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay, Heart murmur OMIM:606744
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia, Pulmonary arterial hypertension OMIM:300887
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha... ORPHA:891
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Short stature, Umbilical hernia, Edema ORPHA:2505
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... ORPHA:2334
Pierpont Syndrome
Microphthalmia ORPHA:487825
Monosomy 18P
Short stature, Microphthalmia, Hypertension, Lymphedema ORPHA:1598
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature ORPHA:290
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele ORPHA:228390
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia, Arrhythmia ORPHA:3191
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay ORPHA:85284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Heart murmur ORPHA:2728
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Temtamy Syndrome
Microphthalmia ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia ORPHA:2189
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Congenital Fibrinogen Deficiency
Tachycardia, Microphthalmia, Internal hemorrhage ORPHA:335
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature ORPHA:163966
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Tricuspid regurgitation OMIM:618652
Gracile Bone Dysplasia
Short stature, Microphthalmia, Aniridia, Ascites OMIM:602361
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Vitreoretinochoroidopathy
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization OMIM:193220
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... OMIM:153400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hypertension, Growth delay, Intracranial hemorrhage OMIM:614424
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:618494
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Microphthalmia, Postnatal growth retardation, Short stature OMIM:243310
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension, Short stature, Intrauterine growth retardation, Oligohydramnios, Edema OMIM:617729
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula... OMIM:300952
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Cardiomyopathy, Optic nerve hypoplasia ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Histiocytoid Cardiomyopathy
Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Pulmona... ORPHA:137675
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Microphthalmia, Encephalocele, Ascites, Portal hypertension, Pulmona... ORPHA:974
Temtamy Syndrome
Microphthalmia, Aortic regurgitation OMIM:218340
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:494344
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616395
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:609053
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Tricuspid regurgitation, Increased nuchal translucency, ... OMIM:619879
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Refsum Disease
Microphthalmia, Heart block, Cardiomyopathy ORPHA:773
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia OMIM:147250
Garg-Mishra Progeroid Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:620601
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t... OMIM:609049
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Edema OMIM:302960
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:251230
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Microphthalmia/Coloboma 12
Growth delay, Microphthalmia, Optic nerve aplasia OMIM:120200
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Vacterl With Hydrocephalus
Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:248700
Mosaic Trisomy 9
Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Intrauterine growth retardation, O... ORPHA:99776
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele OMIM:613451
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Micro Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:2510
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Martsolf Syndrome 1
Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy, Short stature OMIM:212720
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature OMIM:603467
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Moebius Syndrome
Microphthalmia OMIM:157900
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Papillorenal Syndrome
Short stature, Microphthalmia, Hypertension, Edema OMIM:120330
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Polyhydramnios, Aortic regurgitation, Ascites, Increased nuchal translucency, Sho... ORPHA:1052
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Polyhydramnios, Septo-optic dysplasia ORPHA:3301
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Microphthalmia ORPHA:435638
Incontinentia Pigmenti
Congestive heart failure, Microphthalmia, Spina bifida occulta, Cerebral ischemia, Retinal hemorr... ORPHA:464
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Pulmonic stenosis, Short stature OMIM:619148
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension OMIM:616449
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Telangiectasia, Corneal neovascularization OMIM:278730
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine growth retardation, Oligohydr... OMIM:251300
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Growth delay, Short stature, Intrauterine growth retar... ORPHA:3380
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Microphthalmia, Severe postnatal growth retardation ORPHA:35173
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Dilated cardiomyopathy, Microphthalmia, Encephalocele OMIM:253800
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios ORPHA:364577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:2714
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia, Telangiectasia OMIM:601675
Cohen Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:193
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydranencephaly, Neonatal short-trunk short stature, Mesomelic/rhizomel... ORPHA:2839
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema ORPHA:2526
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Mosaic Trisomy 1
Microphthalmia, Polyhydramnios, Increased nuchal translucency ORPHA:1692
Hallermann-Streiff Syndrome
Microphthalmia, Hypertension, Pulmonary arterial hypertension, Proportionate short stature, Spina... OMIM:234100
Cat Eye Syndrome
Pulmonic stenosis, Microphthalmia, Short stature, Umbilical hernia OMIM:115470
Atelis Syndrome 2
Pulmonic stenosis, Microphthalmia, Vitreous hemorrhage, Supravalvar pulmonary stenosis OMIM:620185
3Q29 Microdeletion Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:65286
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:250989
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis, Short stature, Severe short stature, I... OMIM:601186
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Telangiectasia of the skin, Umbilical hernia ORPHA:2092
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia ORPHA:2166
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine... OMIM:223370
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Pulmonary arterial hypertension ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Histiocytoid cardiomyopathy, Short stature, Arrhythmia, Junctional ectopic tachyc... OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:227645
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microphthalmia OMIM:610832
Incontinentia Pigmenti
Short stature, Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage OMIM:308300
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Myhre Syndrome
Microphthalmia, Hypertension, Aortic valve stenosis, Short stature, Pericardial effusion, Intraut... OMIM:139210
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia OMIM:608940
Cousin Syndrome
Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly OMIM:260660
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele OMIM:264480
Teebi-Shaltout Syndrome
Aortic valve stenosis, Microphthalmia, Short stature OMIM:272950
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Cockayne Syndrome B
Postnatal growth retardation, Microphthalmia, Hypertension, Hypoplasia of the iris, Severe short ... OMIM:133540
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Pulmonary arterial hypertension, Portal hype... OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Fanconi Anemia
Microphthalmia, Hypertrophic cardiomyopathy, Spina bifida, Short stature, Growth delay, Umbilical... ORPHA:84
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Microphthalmia, Severe short stature ORPHA:85167
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Arrhythmia, Spinal dysraphism ORPHA:2162
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi... OMIM:256520
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Polyhydramnios, Pulmonary arterial hypertension, Short stature, Intrauterine grow... OMIM:620186
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Oligohy... ORPHA:564
Yunis-Varon Syndrome
Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Hydrops fetalis, Polyhydr... ORPHA:3472
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay OMIM:146510
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:614083
Fanconi Anemia, Complementation Group E
Short stature, Microphthalmia OMIM:600901
Jacobsen Syndrome
Intrauterine growth retardation, Microphthalmia, Macular hypoplasia OMIM:147791
Cockayne Syndrome Type 3
Microphthalmia, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Mild postnatal grow... ORPHA:90324
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Polyhydramnios, Meningoc... ORPHA:567
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Growth delay,... ORPHA:2556
Hallermann-Streiff Syndrome
Congestive heart failure, Microphthalmia, Proportionate short stature ORPHA:2108
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Aortic regurgitation, Optic nerve hypoplasia, Spina bifida, Short stature ORPHA:508498
Fanconi Anemia, Complementation Group A
Short stature, Microphthalmia OMIM:227650
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation ORPHA:3103
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Rhizomelia, Encephalocele OMIM:616300
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda... OMIM:249000
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia ORPHA:33364
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:608670
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, ... OMIM:100300
Fontaine Progeroid Syndrome
Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Short stature, Umbilica... OMIM:612289
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Microphthalmia, Dehydration, Short stature, Umbilical hernia, Joint swelling, Bu... ORPHA:534
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine... ORPHA:93325
Oculodentodigital Dysplasia
Microphthalmia, Arrhythmia OMIM:164200
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia, Telangiectasia OMIM:268400
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1587
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Shor... ORPHA:138
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616975
Isolated Arrhinia
Microphthalmia ORPHA:1134
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature OMIM:127000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Mend Syndrome
Aortic valve stenosis, Microphthalmia, Short stature ORPHA:401973
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Hypertension, Retinal hemorrhage, ... ORPHA:191
Degcags Syndrome
Microphthalmia, Polyhydramnios, Tachycardia, Pulmonary arterial hypertension, Pulmonic stenosis, ... OMIM:619488
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Umbilical ... OMIM:300166
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Fanconi Anemia, Complementation Group D2
Short stature, Microphthalmia OMIM:227646
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Fryns Syndrome
Chylothorax, Microphthalmia, Polyhydramnios OMIM:229850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s... ORPHA:468631
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Microphthalmia With Limb Anomalies
Short stature, Microphthalmia, True anophthalmia ORPHA:1106
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly OMIM:236680
Witteveen-Kolk Syndrome
Microphthalmia, Polyhydramnios, Growth delay, Short stature, Intracranial hemorrhage, Intrauterin... OMIM:613406
Steinfeld Syndrome
Microphthalmia OMIM:184705
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele OMIM:610829
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um... OMIM:305600
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplas... ORPHA:508488
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Traboulsi Syndrome
Microphthalmia OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil... OMIM:214800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Microphthalmia, Corneal neovascularization, Retinal hemorrhage, Hypoplasia of th... OMIM:175780
Monosomy 9P
Microphthalmia ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Neuroocular Syndrome
Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Pallister-Hall Syndrome
Microphthalmia, Short stature, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Aortic regurgitation OMIM:612474
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:309000
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt... OMIM:113620
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardat... OMIM:268300
Norrie Disease
Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Mowat-Wilson Syndrome
Pulmonic stenosis, Microphthalmia, Short stature OMIM:235730
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Short stature ORPHA:857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Short stature ORPHA:261552
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Short stature, Growth delay ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonic stenosis, Microphthalmia, Aortic valve stenosis, Short stature ORPHA:261537
Holoprosencephaly 2
Microphthalmia OMIM:157170
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccdc186

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 Ccdc186.

No publications found that use IMPC mice or data for Ccdc186.

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MGI Allele Allele Type Produced
Ccdc186tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ccdc186tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc186em1(IMPC)Mbp Exon Deletion Mice, Tissue

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