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Gene: Ccdc186 MGI:2445022

Gene Summary

Name:

coiled-coil domain containing 186

Synonyms:

Otg1, A630007B06Rik, 1810028B20Rik

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	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Ccdc186^em1(IMPC)Mbp	HET	Early adult	0.00
hemorrhage	Ccdc186^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Ccdc186^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Ccdc186^em1(IMPC)Mbp	HET	E15.5	0.00
embryonic growth retardation	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased exploration in new environment	Ccdc186^em1(IMPC)Mbp	HET	Early adult	1.40×10^-05
hemorrhage	Ccdc186^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Ccdc186^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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.

Human diseases associated with Ccdc186 (0 diseases)
Human diseases predicted to be associated with Ccdc186 (386 diseases)

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	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, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia, Intrauterine growth retardation	OMIM:616570
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 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Nanophthalmos	Microphthalmia	ORPHA:35612
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Fanconi Anemia, Complementation Group J	Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:609054
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Mmep Syndrome	Microphthalmia	ORPHA:3434
Craniotelencephalic Dysplasia	Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Short stature	ORPHA:141333
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature, Heart murmur	OMIM:606744
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:615113
Congenital Toxoplasmosis	Ascites, Microphthalmia, Intrauterine growth retardation	ORPHA:858
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Meckel Syndrome, Type 8	Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Occipital encephalocele	OMIM:613885
Craniotelencephalic Dysplasia	Arrhinencephaly, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp...	ORPHA:137902
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Orbital encephalocele	OMIM:164180
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular edema, Lymphedema, Retinal neovascularization, Macular telangiectasi...	ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Congestive heart failure, Edema, Microphthalmia, Umbilical hernia	ORPHA:2505
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E...	OMIM:617300
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Autosomal Dominant Keratitis	Macular hypoplasia, Corneal neovascularization, Hypoplastic iris stroma, Bilateral microphthalmos...	ORPHA:2334
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Microphthalmia, Oligohydramnios	OMIM:619053
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Monosomy 18P	Hypertension, Microphthalmia, Short stature, Lymphedema	ORPHA:1598
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia, Oligohydramnios	ORPHA:228390
Meckel Syndrome, Type 2	Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:300863
Lymphangiectasia, Pulmonary, Congenital	Polyhydramnios, Pedal edema, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Pleura...	OMIM:265300
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature, Arrhythmia	ORPHA:3191
Anterior Segment Dysgenesis 5	Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia	OMIM:604229
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Short stature	OMIM:619318
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Trisomy 13	Hydrops fetalis, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt...	ORPHA:3378
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Mild short stature, Microphthalmia, Short stature, Optic nerve hypoplasia	OMIM:614833
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Microphthalmia	ORPHA:93267
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Hydrolethalus	Polyhydramnios, Anophthalmia, Anencephaly, Arrhinencephaly, Microphthalmia	ORPHA:2189
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Heart murmur	ORPHA:2728
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia	OMIM:136760
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Intrauterine growth retar...	OMIM:617914
Congenital Fibrinogen Deficiency	Microphthalmia, Tachycardia, Internal hemorrhage	ORPHA:335
Spondylo-Ocular Syndrome	Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microphthalmia, Short...	ORPHA:85194
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:163966
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
Gracile Bone Dysplasia	Ascites, Microphthalmia, Aniridia, Short stature	OMIM:602361
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Vitreoretinochoroidopathy	Retinal neovascularization, Vitreous hemorrhage, Microphthalmia	OMIM:193220
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Pulmonic stenosis, Umbilical hernia, Lens coloboma	OMIM:618914
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Lymphedema-Distichiasis Syndrome	Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Chylothorax, Micropht...	OMIM:153400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Joubert Syndrome 14	Meningocele, Encephalocele, Hypertension, Intracranial hemorrhage, Microphthalmia, Growth delay	OMIM:614424
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
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia, Short stature	OMIM:169550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Mic...	OMIM:300952
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Short stature, Microphthalmia, Postnatal growth retardation	OMIM:243310
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Pulmonary edema, Wolff-Parkinson-White s...	ORPHA:137675
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Encephalocele, Microphthalmia, Gastrointestinal hemorrhage, Asci...	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Increased nuchal translucency, Microphthalmia, Oligohydramnios	OMIM:618494
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Galloway-Mowat Syndrome 3	Short stature, Hypertension, Oligohydramnios, Edema, Microphthalmia, Intrauterine growth retardation	OMIM:617729
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation	ORPHA:494344
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Heart And Brain Malformation Syndrome	Growth delay, Polyhydramnios, Microphthalmia	OMIM:616920
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Microphthalmia, Short stature, Optic nerve hypoplasia	OMIM:609053
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Exudative Vitreoretinopathy 2, X-Linked	Retinal neovascularization, Microphthalmia	OMIM:305390
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Refsum Disease	Cardiomyopathy, Microphthalmia, Heart block	ORPHA:773
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Meckel Syndrome 14	Oligohydramnios, Mitral regurgitation, Microphthalmia, Occipital encephalocele, Increased nuchal ...	OMIM:619879
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pierson Syndrome	Retinal hemorrhage, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasi...	OMIM:609049
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Growth delay	ORPHA:77298
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Rhizomelia, Edema, Microphthalmia, Postnatal growth retardation	OMIM:302960
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Microphthalmia With Limb Anomalies	Microphthalmia, Growth delay, Anophthalmia, Postnatal growth retardation	OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Coloboma, Ocular, Autosomal Dominant	Growth delay, Optic nerve aplasia, Microphthalmia	OMIM:120200
Vacterl With Hydrocephalus	Polyhydramnios, Anophthalmia, Spina bifida, Arrhinencephaly, Microphthalmia, Intrauterine growth ...	ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Mosaic Trisomy 9	Polyhydramnios, Hydrops fetalis, Spina bifida, Oligohydramnios, Microphthalmia, Intrauterine grow...	ORPHA:99776
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation	OMIM:241410
Marden-Walker Syndrome	Microphthalmia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:248700
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:251230
Micro Syndrome	Delayed puberty, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2510
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye, Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi	ORPHA:91495
Frontonasal Dysplasia 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Oligohydramnios	OMIM:613451
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Hyphema, Phthisis bulbi, Buphthalmos	OMIM:221900
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Intrauterine growth retardation, Short stature	OMIM:610758
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Short stature, Umbilical hernia	ORPHA:369891
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Papillorenal Syndrome	Hypertension, Edema, Microphthalmia, Short stature	OMIM:120330
Martsolf Syndrome 1	Short stature, Cardiac arrest, Congestive heart failure, Microphthalmia, Cardiomyopathy	OMIM:212720
Fanconi Anemia, Complementation Group F	Polyhydramnios, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:603467
Moebius Syndrome	Microphthalmia	OMIM:157900
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Warburg Micro Syndrome 3	Microphthalmia, Postnatal growth retardation	OMIM:614222
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Short stature, Aortic regurgitation, Microphthalmia, Growth delay, Ascites, Incre...	ORPHA:1052
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Short stature, Anencephaly, Microphthalmia, Pulmonic stenosis	OMIM:619148
3P25.3 Microdeletion Syndrome	Microphthalmia, Pulmonic stenosis	ORPHA:435638
Incontinentia Pigmenti	Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral ischemia, Short stature, Congestive...	ORPHA:464
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia	OMIM:616449
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Ritscher-Schinzel Syndrome 3	Microphthalmia, Postnatal growth retardation	OMIM:619135
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Telangiectasia, Corneal neovascularization	OMIM:278730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Trisomy 18	Short stature, Spina bifida, Anencephaly, Oligohydramnios, Microphthalmia, Growth delay, Intraute...	ORPHA:3380
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Galloway-Mowat Syndrome 1	Short stature, Hypoplasia of the iris, Oligohydramnios, Microphthalmia, Intrauterine growth retar...	OMIM:251300
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Frontorhiny	Basal encephalocele, Encephalocele, Cranium bifidum occultum, Microphthalmia	ORPHA:391474
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Pulmonic stenosis, Dilated cardiomyopathy, Encephalocele, Microphthalmia	OMIM:253800
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Cohen Syndrome	Delayed puberty, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:193
Warburg Micro Syndrome 2	Microphthalmia, Postnatal growth retardation	OMIM:614225
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydranencephaly, Bilateral mic...	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Microphthalmia, Short stature	OMIM:601675
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Microphthalmia	ORPHA:1692
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Lymphedema, Pleural effusion, Edema, Severe short stature, Microphthalmia, Chylothorax	ORPHA:2526
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Cat Eye Syndrome	Pulmonic stenosis, Short stature, Microphthalmia, Umbilical hernia	OMIM:115470
Hallermann-Streiff Syndrome	Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Hypertension, Microphthalmia, Prop...	OMIM:234100
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Microphthalmia	ORPHA:65286
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Microphthalmia, Syndromic 3	Anophthalmia, Short stature, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia, Postnat...	OMIM:206900
Focal Dermal Hypoplasia	Spina bifida, Hypoplasia of the iris, Microphthalmia, Telangiectasia of the skin, Umbilical hernia	ORPHA:2092
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth retardation, Pulmonic ...	OMIM:601186
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia	OMIM:615877
Fryns Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2059
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Short stature, Junctional ectopic tachycardia, Microphthalmia, Arrhy...	OMIM:309801
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Incontinentia Pigmenti	Retinal hemorrhage, Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Dubowitz Syndrome	Short stature, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Postnatal...	OMIM:223370
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia, Short stature	OMIM:272950
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Cousin Syndrome	Rhizomelia, Hydranencephaly, Microphthalmia, Disproportionate short stature	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia	ORPHA:464738
Oculoauricular Syndrome	Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia	OMIM:612109
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Holoprosencephaly	Spinal dysraphism, Encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia, Arrhythmia	ORPHA:2162
Myhre Syndrome	Birth length less than 3rd percentile, Short stature, Pericardial effusion, Hypertension, Microph...	OMIM:139210
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Polyhydramnios, Hydrops fetalis, Short stature, Arrhinencephaly,...	ORPHA:3472
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Microphthalmia, Intrauterine growth retardation, Portal hyperten...	OMIM:620005
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Fanconi Anemia	Short stature, Aplasia/Hypoplasia of the iris, Spina bifida, Oligohydramnios, Hypertrophic cardio...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Meningoencephalocele, Optic nerve hypoplasia, Buphthalmos, Microphthalmia, Occipital encephalocele	OMIM:236670
22Q11.2 Deletion Syndrome	Meningocele, Polyhydramnios, Short stature, Spina bifida, Arrhinencephaly, Corneal neovasculariza...	ORPHA:567
Cockayne Syndrome B	Hypoplasia of the iris, Hypertension, Severe short stature, Microphthalmia, Arrhythmia, Intrauter...	OMIM:133540
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Severe short stature, Microphthalmia	ORPHA:85167
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Oligohydramnios, Microp...	ORPHA:564
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia, Intrauterine growth retardation	OMIM:147791
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Neu-Laxova Syndrome 1	Polyhydramnios, Spina bifida, Short umbilical cord, Hydranencephaly, Microphthalmia, Small placen...	OMIM:256520
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Pallister-Hall Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:146510
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Short stature	OMIM:618874
Roberts Syndrome	Polyhydramnios, Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation	ORPHA:3103
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Cockayne Syndrome Type 3	Retinal hemorrhage, Mild postnatal growth retardation, Subdural hemorrhage, Increased blood press...	ORPHA:90324
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Encephalocele, Microphthalmia	OMIM:616300
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Severe short stature, Mitral r...	ORPHA:2556
Kenny-Caffey Syndrome, Type 2	Severe short stature, Microphthalmia, Short stature	OMIM:127000
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Spina bifida, Optic nerve hypoplasia, Aortic regurgitation, Microphthalmia	ORPHA:508498
Meckel Syndrome, Type 1	Anencephaly, Oligohydramnios, Microphthalmia, Large placenta, Occipital encephalocele, Intrauteri...	OMIM:249000
Hallermann-Streiff Syndrome	Proportionate short stature, Congestive heart failure, Microphthalmia	ORPHA:2108
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Adams-Oliver Syndrome 1	Pulmonary arterial hypertension, Encephalocele, Hypertension, Microphthalmia, Aortic valve stenos...	OMIM:100300
Trichothiodystrophy	Bilateral microphthalmos, Intrauterine growth retardation, Umbilical hernia, Cardiomyopathy	ORPHA:33364
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Bilateral microphthalmos, Growth delay, Intrauterine growth retardation, Postnatal...	ORPHA:93325
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:608670
Rothmund-Thomson Syndrome, Type 2	Telangiectasia, Microphthalmia, Short stature	OMIM:268400
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Fontaine Progeroid Syndrome	Pulmonary arterial hypertension, Short stature, Oligohydramnios, Microphthalmia, Intrauterine gro...	OMIM:612289
Oculocerebrorenal Syndrome Of Lowe	Short stature, Buphthalmos, Delayed puberty, Joint swelling, Microphthalmia, Dehydration, Umbilic...	ORPHA:534
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Arrhinencephaly, Anophthalmia, Growth delay	ORPHA:2538
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia, Postnatal growth retardation	ORPHA:959
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Charge Syndrome	Polyhydramnios, Anophthalmia, Short stature, Delayed puberty, Microphthalmia, Intrauterine growth...	ORPHA:138
Fryns Syndrome	Polyhydramnios, Arrhinencephaly, Microphthalmia, Chylothorax	OMIM:229850
Mend Syndrome	Aortic valve stenosis, Microphthalmia, Short stature	ORPHA:401973
Degcags Syndrome	Pulmonary arterial hypertension, Polyhydramnios, Tachycardia, Microphthalmia, Intrauterine growth...	OMIM:619488
Microphthalmia With Limb Anomalies	Arrhinencephaly, True anophthalmia, Microphthalmia, Short stature	ORPHA:1106
Cockayne Syndrome	Retinal hemorrhage, Hypertension, Severe short stature, Delayed puberty, Microphthalmia, Growth d...	ORPHA:191
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature	OMIM:227646
Aicardi Syndrome	Spina bifida, Microphthalmia, Postnatal growth retardation	OMIM:304050
Microphthalmia, Syndromic 2	Anophthalmia, Short stature, Microphthalmia, Aortic valve stenosis, Phthisis bulbi, Pulmonic sten...	OMIM:300166
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Hydrolethalus Syndrome 1	Polyhydramnios, Anencephaly, Arrhinencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:236680
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Short stature	OMIM:259770
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Optic nerve hypo...	ORPHA:468631
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Focal Dermal Hypoplasia	Telangiectasia, Myelomeningocele, Anophthalmia, Short stature, Aniridia, Spina bifida occulta, Mi...	OMIM:305600
Witteveen-Kolk Syndrome	Polyhydramnios, Short stature, Intracranial hemorrhage, Microphthalmia, Growth delay, Branchial f...	OMIM:613406
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Phace Syndrome	Lens coloboma, Microphthalmia, Optic nerve hypoplasia	ORPHA:42775
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Charge Syndrome	Polyhydramnios, Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Delayed puberty, Microp...	OMIM:214800
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Short stature, Oligohydramnios, Spina bifida occulta, Op...	ORPHA:508488
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of the iris, Corneal neovasc...	OMIM:175780
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Monosomy 9P	Microphthalmia	ORPHA:261112
Fraser Syndrome	Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Umbilical hernia	ORPHA:2052
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Pallister-Hall Syndrome	Short stature, Arrhinencephaly, Oligohydramnios, Microphthalmia, Intrauterine growth retardation,...	ORPHA:672
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Neuroocular Syndrome	Short stature, Lens coloboma, Hypoplasia of the fovea, Microphthalmia, Umbilical hernia	OMIM:619539
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Lowe Oculocerebrorenal Syndrome	Short stature, Microphthalmia, Postnatal growth retardation	OMIM:309000
Branchiooculofacial Syndrome	Branchial anomaly, Anophthalmia, Microphthalmia, Intrauterine growth retardation, Postnatal growt...	OMIM:113620
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Microphthalmia, Severe intrauterine growth retardation, Frontal encephalocele, Po...	OMIM:268300
Fraser Syndrome 1	Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia	OMIM:219000
Norrie Disease	Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia, Short stature	OMIM:235730
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
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	Short stature, Hyphema, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:261552
Mowat-Wilson Syndrome	Short stature, Growth delay, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:2152
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Pulmonic stenosis, Microphthalmia, Short stature	ORPHA:261537
Craniofacial Microsomia	Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Growth delay	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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
Ccdc186^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ccdc186^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ccdc186^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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Gene: Ccdc186 MGI:2445022

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Ccdc186 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data