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Gene: Kbtbd12 MGI:1918481

Gene Summary

Name:

kelch repeat and BTB (POZ) domain containing 12

Synonyms:

Klhdc6, 4933428M03Rik, 4833415F11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
microphthalmia	Kbtbd12^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Kbtbd12^em1(IMPC)Mbp	HOM	Early adult
abnormal cecum morphology	Kbtbd12^em1(IMPC)Mbp	HOM	Early adult
enlarged cecum	Kbtbd12^em1(IMPC)Mbp	HOM	Early adult

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

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Kbtbd12 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 Kbtbd12 (0 diseases)
Human diseases predicted to be associated with Kbtbd12 (398 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kbtbd12 by phenotypic similarity.

Disease	Matching phenotypes	Source
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
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
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Gombo Syndrome	Microphthalmia	OMIM:233270
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate	OMIM:120433
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate	ORPHA:2528
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia	ORPHA:3469
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Mmep Syndrome	Microphthalmia	ORPHA:3434
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:1617
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis	ORPHA:2547
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
17Q12 Microduplication Syndrome	Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia	OMIM:619318
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164180
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate	OMIM:601349
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Cofs Syndrome	Microphthalmia	ORPHA:1466
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate	OMIM:619981
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Meckel Syndrome, Type 2	Microphthalmia, Intestinal malrotation, Cleft palate	OMIM:603194
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Cleft palate	OMIM:613885
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate	ORPHA:85284
Hartsfield Syndrome	Microphthalmia, Cleft palate	ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia	OMIM:613155
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula	ORPHA:77298
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Seckel Syndrome 2	Microphthalmia, Microglossia	OMIM:606744
Pierpont Syndrome	Microphthalmia	OMIM:602342
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Microphthalm...	OMIM:115470
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Duodenal stenosis	ORPHA:2470
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Meckel Syndrome, Type 5	Microphthalmia, Cleft palate	OMIM:611561
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Cleft palate, Anteriorly placed anus, Gastroesophageal reflux, Dysphagia, Mi...	OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus	ORPHA:335
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Cleft palate, Microphthalmia, Bifid uvula, Abnormal gastrointestinal trac...	ORPHA:404440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Pyloric stenosis, Meckel diverticulum	OMIM:616395
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe...	ORPHA:2538
Frontonasal Dysplasia 1	Microphthalmia, Median cleft palate	OMIM:136760
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:2328
Fanconi Anemia, Complementation Group R	Microphthalmia, Anal atresia	OMIM:617244
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip and palate	OMIM:619339
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Hydrolethalus	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:2189
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dysphagia	OMIM:612379
Trisomy 13	Anophthalmia, High, narrow palate, Cleft palate, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:3378
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, High palate, Mic...	OMIM:248700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Bilateral microphthalmos, Optic nerve hypoplasia, Cleft palate	OMIM:607597
Moebius Syndrome	Microphthalmia, High palate, Bifid uvula, Dysphagia	OMIM:157900
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Joubert Syndrome 37	Microphthalmia, High palate	OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate	OMIM:614105
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Anal atresia	ORPHA:1352
Stevenson-Carey Syndrome	Microphthalmia, Gastroesophageal reflux	OMIM:611961
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu...	ORPHA:2059
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Microphthalmia, Du...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
3Q29 Microduplication Syndrome	Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia	ORPHA:251038
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:163649
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Oculofaciocardiodental Syndrome	Microphthalmia, Submucous cleft hard palate, Intestinal malrotation, Cleft palate	ORPHA:2712
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Gastroesophageal reflux, Dysphagia	ORPHA:494344
Monosomy 18P	Microphthalmia, Cleft palate	ORPHA:1598
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Fanconi Anemia, Complementation Group S	Microphthalmia, Narrow palate	OMIM:617883
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Sandestig-Stefanova Syndrome	Microphthalmia, High palate	OMIM:618804
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
3P25.3 Microdeletion Syndrome	Microphthalmia, High, narrow palate, Pyloric stenosis, Cleft palate	ORPHA:435638
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ankyloglossia	OMIM:602361
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Macroglossia, Optic nerve hypoplasia	ORPHA:370959
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Cleft palate	OMIM:244300
Heart And Brain Malformation Syndrome	Microphthalmia, High, narrow palate, Gastroesophageal reflux	OMIM:616920
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Curry-Jones Syndrome	Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation	OMIM:601707
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, High palate, Cleft palate	OMIM:206920
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Vacterl With Hydrocephalus	Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia	ORPHA:3412
Fraser Syndrome 2	Microphthalmia, Rectal atresia, Intestinal malrotation, Anal atresia	OMIM:617666
Frontofacionasal Dysplasia	Microphthalmia, Cleft palate	ORPHA:1791
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
Meckel Syndrome, Type 4	Microphthalmia, Cleft palate	OMIM:611134
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Anal atresia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Cleft palate, Furrowed tongue, Gastroesophageal reflux, High palate, Microphthalmia	OMIM:616449
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Chromosome 13Q33-Q34 Deletion Syndrome	Pyloric stenosis, Anteriorly placed anus, High palate, Microphthalmia, Anal atresia	OMIM:619148
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:899
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Intestinal obstruction, Malabsorption	OMIM:601675
Fetal Alcohol Syndrome	Microphthalmia, Cleft palate	ORPHA:1915
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Temtamy Syndrome	Microphthalmia	OMIM:218340
Rodrigues Blindness	Microphthalmia	OMIM:268320
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Esophageal varix	ORPHA:974
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Macroglossia, Bilateral microphthalmos, High palate	ORPHA:369891
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Warburg Micro Syndrome 3	Microphthalmia, Narrow palate	OMIM:614222
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Fg Syndrome Type 1	Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenos...	ORPHA:93932
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, High palate, Cleft palate	OMIM:612530
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cleft palate	ORPHA:2728
Joubert Syndrome 14	Microphthalmia, Cleft palate	OMIM:614424
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Cleft palate	ORPHA:2505
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Aganglionic megacolon, Microphthalmia, Anal atresia	OMIM:607323
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate	OMIM:620098
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Bifid uvula	OMIM:241410
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Linear Skin Defects With Multiple Congenital Anomalies 1	Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Anal atresia	OMIM:309801
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Cleft palate	OMIM:618571
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, High palate, Cleft palate	OMIM:156610
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Gastroesophageal reflux, Hepato...	ORPHA:50
Mosaic Trisomy 9	Microphthalmia, High palate, Intestinal malrotation, Cleft palate	ORPHA:99776
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Anal atresia	OMIM:614083
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia	OMIM:206900
Micro Syndrome	Microphthalmia, High palate	ORPHA:2510
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate	ORPHA:35173
Fanconi Anemia, Complementation Group F	Microphthalmia, Duodenal atresia	OMIM:603467
Frontorhiny	Microphthalmia, Bifid tongue, Cleft palate	ORPHA:391474
Pseudotrisomy 13 Syndrome	Microphthalmia, Anal atresia, Median cleft lip and palate	OMIM:264480
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
3Q29 Microdeletion Syndrome	Microphthalmia, Gastroesophageal reflux, High palate	ORPHA:65286
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Cleft palate, Colon cancer, Microphthalmia, Stomach cancer, Duodenal atresia	ORPHA:1052
Refsum Disease	Microphthalmia	ORPHA:773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Macroglossia, Microphthalmia, Cleft palate	OMIM:613150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Galloway-Mowat Syndrome 3	Microphthalmia, High palate, Hiatus hernia	OMIM:617729
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, High palate, Unilateral microphthalmos, Bilateral cleft lip and palate	OMIM:618874
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Anal atresia, Intestinal malrotation, Cleft palate	ORPHA:2166
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Martsolf Syndrome 1	Microphthalmia, High palate	OMIM:212720
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cleft palate, Lobulated tongue, Microphthalmia, Bifid tongue, Anal atresia	OMIM:616300
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, High palate, Cleft palate	OMIM:614230
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, High palate, Hiatus hernia	OMIM:251300
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Microphthalmia, ...	OMIM:229850
Microcephaly-Micromelia Syndrome	Microphthalmia, Cleft palate	OMIM:251230
Ohdo Syndrome, X-Linked	Microphthalmia, High palate, Hiatus hernia	OMIM:300895
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Trisomy 18	Esophageal atresia, Narrow palate, Cleft palate, Microphthalmia, Anal atresia	ORPHA:3380
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cleft palate, Buphthalmos, Microphthalmia, Anal atresia	OMIM:236670
8Q21.11 Microdeletion Syndrome	Microphthalmia, High palate	ORPHA:284160
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Gastroesophageal reflux, Duodenal atresia	ORPHA:2092
Mycophenolate Mofetil Embryopathy	Microphthalmia, Tracheoesophageal fistula	ORPHA:268249
Oculo-Palato-Cerebral Syndrome	Microphthalmia, High, narrow palate, Cleft palate	ORPHA:2714
Cohen Syndrome	Microphthalmia, High, narrow palate, Aplasia/Hypoplasia of the tongue	ORPHA:193
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, High, narrow palate, Cleft palate, Furrowed tongue	ORPHA:464738
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Microphthalmia, Anal atresia	OMIM:617925
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Pallister-Hall Syndrome	Cleft palate, Anteriorly placed anus, Microphthalmia, Microglossia, Anal atresia	OMIM:146510
Atelis Syndrome 2	Microphthalmia, Gastroesophageal reflux, High palate	OMIM:620185
Joubert Syndrome 2	Microphthalmia, High palate	OMIM:608091
Mosaic Trisomy 1	Microphthalmia, Cleft palate	ORPHA:1692
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Jacobsen Syndrome	Microphthalmia, Pyloric stenosis, Macular hypoplasia	OMIM:147791
Dubowitz Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Hypoplasia of the iris, Gastroesophage...	OMIM:223370
1Q21.1 Microdeletion Syndrome	Microphthalmia, Ankyloglossia, High palate	ORPHA:250989
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Pelvis-Shoulder Dysplasia	Microglossia, Bilateral microphthalmos, Cleft palate	ORPHA:2839
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Microglossia, Cleft palate	ORPHA:364577
Holoprosencephaly	Anophthalmia, Intestinal atresia, Gastroesophageal reflux, Microphthalmia, Median cleft lip and p...	ORPHA:2162
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Aganglionic megacolon	ORPHA:959
Steinfeld Syndrome	Microphthalmia, Bifid uvula, Median cleft lip and palate	OMIM:184705
Treacher-Collins Syndrome	Tracheoesophageal fistula, Cleft palate, Glossoptosis, High palate, Rectovaginal fistula, Microph...	ORPHA:861
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ...	ORPHA:84
Teebi-Shaltout Syndrome	Microphthalmia, High, narrow palate, Cleft palate	OMIM:272950
Basal Cell Nevus Syndrome 1	Microphthalmia, Hamartomatous stomach polyps, Cleft palate	OMIM:109400
Fanconi Anemia, Complementation Group D2	Microphthalmia, Esophageal atresia, Tracheoesophageal fistula	OMIM:227646
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate	OMIM:153400
Momo Syndrome	Bilateral microphthalmos, High palate	ORPHA:2563
Hallermann-Streiff Syndrome	Microphthalmia, High, narrow palate, High palate, Narrow palate	OMIM:234100
Cousin Syndrome	Microphthalmia, Microglossia, Cleft palate	OMIM:260660
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Furrowed tongue, Gastroesophageal reflux, High palate, Microphthalmia, Duodenal atresia	OMIM:616975
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:251014
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Bannayan-Riley-Ruvalcaba Syndrome	Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis	ORPHA:109
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Rothmund-Thomson Syndrome, Type 2	Anteriorly placed anus, Microphthalmia, High palate	OMIM:268400
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Microphthalmi...	OMIM:610829
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Bartsocas-Papas Syndrome 1	Microphthalmia, Anal atresia, Anal stenosis, Cleft palate	OMIM:263650
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Cleft palate, Hiatus hernia	OMIM:304050
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Meckel Syndrome	Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia...	ORPHA:564
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Cl...	ORPHA:567
Holoprosencephaly 7	Bilateral cleft palate, Bilateral microphthalmos, Cleft palate, Microphthalmia, Unilateral cleft ...	OMIM:610828
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Oculodentodigital Dysplasia	Microphthalmia, High palate, Cleft palate	OMIM:164200
Tetraamelia Syndrome 1	Microphthalmia, Anal atresia, Cleft palate	OMIM:273395
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Cleft palate	ORPHA:137675
Hallermann-Streiff Syndrome	Microphthalmia, High, narrow palate, Glossoptosis	ORPHA:2108
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula	OMIM:601552
Degcags Syndrome	Jejunal atresia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hiatus hernia, H...	OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Abnormal rectum morphology, Abnormality of the anus	ORPHA:2556
Meckel Syndrome, Type 1	Intestinal malrotation, Cleft palate, Lobulated tongue, Microphthalmia, Anal atresia	OMIM:249000
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft palate, High palate, Submucous cleft soft palate, Microph...	OMIM:608670
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Oculocerebrorenal Syndrome Of Lowe	Malabsorption, Narrow palate, Buphthalmos, Gastroesophageal reflux, Microphthalmia	ORPHA:534
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia	ORPHA:1587
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	OMIM:603457
Microphthalmia With Limb Anomalies	Microphthalmia, High palate, True anophthalmia, Cleft palate	ORPHA:1106
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Mend Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:401973
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Monosomy 9P	Microphthalmia, High palate, Cleft palate	ORPHA:261112
Fraser Syndrome	Anal stenosis, Anophthalmia, Ectopic anus, High palate, Microphthalmia, Bifid tongue, Anal atresia	ORPHA:2052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia, Duodenal atresia	ORPHA:468631
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Focal Dermal Hypoplasia	Anophthalmia, Intestinal malrotation, Hiatus hernia, Cleft palate, Anteriorly placed anus, Anirid...	OMIM:305600
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Cockayne Syndrome Type 3	Microphthalmia, Gastroesophageal reflux	ORPHA:90324
Charge Syndrome	Anophthalmia, Abnormal soft palate morphology, Tracheoesophageal fistula, Cleft palate, Gastroeso...	ORPHA:138
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Trichothiodystrophy	High, narrow palate, Bilateral microphthalmos	ORPHA:33364
Roberts Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:3103
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Ankyloglossia, Gastroesophageal reflux, Bifid uvula	OMIM:620186
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, High palate	OMIM:609945
Frontofacionasal Dysplasia	Microphthalmia, Bifid uvula	OMIM:229400
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Renpenning Syndrome 1	Microphthalmia, Anal atresia, High palate, Cleft palate	OMIM:309500
Charge Syndrome	Anal stenosis, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Unilate...	OMIM:214800
Fontaine Progeroid Syndrome	Protruding tongue, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Micropht...	OMIM:612289
Yunis-Varon Syndrome	High, narrow palate, Pyloric stenosis, Bilateral microphthalmos, Glossoptosis, Microphthalmia	ORPHA:3472
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Proboscis Lateralis	Microphthalmia, Anophthalmia, High palate, Optic nerve hypoplasia	ORPHA:141099
Myhre Syndrome	Microphthalmia, Cleft palate	OMIM:139210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cleft palate	ORPHA:306542
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Cleft palate	OMIM:616734
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Submucous cleft hard palate, Microphthalmia, Bifid uvula	OMIM:300166
Cockayne Syndrome	Microphthalmia, Gastroesophageal reflux	ORPHA:191
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, High palate	OMIM:613884
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Bilateral microphthalmos, Cleft palate, Abnorm...	OMIM:219000
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Branchiooculofacial Syndrome	Anophthalmia, Malrotation of colon, Pyloric stenosis, Cleft palate, Gastroesophageal reflux, Micr...	OMIM:113620
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cleft soft palate, Cleft palate	OMIM:154500
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Submucous cleft hard palate, Lens coloboma, Microphthalmia,...	OMIM:619539
Adams-Oliver Syndrome 1	Microphthalmia, Cleft palate	OMIM:100300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Mowat-Wilson Syndrome	Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Microphthalmia	OMIM:235730
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, High palate, Bifid uvula	OMIM:612474
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High...	OMIM:309800
Townes-Brocks Syndrome	Rectoperineal fistula, Anteriorly placed anus, Rectovaginal fistula, Microphthalmia, Anal atresia	ORPHA:857
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Microphthalmia, Bifid uvula, Median ...	OMIM:157170
Holoprosencephaly 1	Microphthalmia, Median cleft lip and palate	OMIM:236100
Neu-Laxova Syndrome 1	Microphthalmia, Cleft palate	OMIM:256520
Witteveen-Kolk Syndrome	Microphthalmia, High, narrow palate, High palate, Gastroesophageal reflux	OMIM:613406
Pallister-Hall Syndrome	Cleft palate, Microphthalmia, Microglossia, Bifid uvula, Anal atresia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Optic nerve hypoplasia, Bilateral microphthalmos, Gastroesophageal r...	ORPHA:508488
Hydrolethalus Syndrome 1	Microphthalmia, Cleft palate	OMIM:236680
Mowat-Wilson Syndrome	Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Enteroc...	ORPHA:2152
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cleft palate, Submucous cleft of soft...	ORPHA:261537
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cleft palate, Submucous cleft of soft...	ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Roberts-Sc Phocomelia Syndrome	Microphthalmia, High palate, Cleft palate	OMIM:268300
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164210

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 Kbtbd12

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 Kbtbd12.

No publications found that use IMPC mice or data for Kbtbd12.

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MGI Allele	Allele Type	Produced
Kbtbd12^{tm466023(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kbtbd12^em1(IMPC)Mbp	Inter-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kbtbd12 MGI:1918481

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Kbtbd12 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data