Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E14.5-E15.5

Embryo reconstruction

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

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

Subscribe to newsletter