banner
Genes Phenotypes Help, News, Blog

Gene: Rexo1 MGI:1914182

Log in to follow

Gene Summary

Name:
REX1, RNA exonuclease 1
Synonyms:
Rex1,  1700021P10Rik,  2610511M11Rik,  Tceb3bp1

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Rexo1em1(IMPC)J HOM E12.5 0.00
microphthalmia Rexo1em1(IMPC)J HOM E12.5 0.00
abnormal embryo size Rexo1em1(IMPC)J HOM E12.5 0.00
abnormal forebrain morphology Rexo1em1(IMPC)J HOM E12.5 0.00
abnormal body wall morphology Rexo1em1(IMPC)J HOM E18.5 0.00
embryonic growth retardation Rexo1em1(IMPC)J HOM E12.5 0.00
hemorrhage Rexo1em1(IMPC)J HOM E18.5 0.00
abnormal heart morphology Rexo1em1(IMPC)J HOM E9.5 0.00
abnormal head shape Rexo1em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Rexo1em1(IMPC)J HOM E18.5 0.00
hemorrhage Rexo1em1(IMPC)J HOM E12.5 0.00
microphthalmia Rexo1em1(IMPC)J HOM E18.5 0.00
abnormal limb bud morphology Rexo1em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Rexo1em1(IMPC)J HOM   Early adult 0.00
abnormal facial morphology Rexo1em1(IMPC)J HOM E18.5 0.00
pale liver Rexo1em1(IMPC)J HOM E12.5 0.00
embryonic growth retardation Rexo1em1(IMPC)J HOM E9.5 0.00
abnormal tail morphology Rexo1em1(IMPC)J HOM E18.5 0.00
anophthalmia Rexo1em1(IMPC)J HOM E18.5 0.00
abnormal embryo size Rexo1em1(IMPC)J HET E18.5 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.

Gross Morphology Embryo E12.5

Images

2 Images

View images
Combined SHIRPA and Dysmorphology

Images

4 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Electroretinography 3

Fundus file

5 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

View images
Gross Morphology Embryo E18.5

Images

3 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

View images

Human diseases caused by Rexo1 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 Rexo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology, Hepatomegaly ORPHA:2432
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... OMIM:613885
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... OMIM:615297
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Intrauterine growth retardation OMIM:616570
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature, Brachycephaly ORPHA:2528
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Intrauterine growth retardation ORPHA:291
Trisomy 13
Anophthalmia, Ventricular septal defect, Postaxial hand polydactyly, Aplasia/Hypoplasia of the ir... ORPHA:3378
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate... OMIM:206920
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Ventricular septal defe... ORPHA:93267
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Mmep Syndrome
Microphthalmia, Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia ORPHA:1528
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation ... ORPHA:1101
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Microphthalmia, Intrauterine... ORPHA:858
Microphthalmia, Syndromic 9
Inguinal hernia, Anophthalmia, Ventricular septal defect, Short stature, Severe short stature, Bi... OMIM:601186
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Talipes equinovarus, Intrauterine growth retardation OMIM:616171
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... ORPHA:93323
Matthew-Wood Syndrome
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... ORPHA:2470
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Aplasia/Hypoplasi... ORPHA:290
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia, Brachycephaly ORPHA:66625
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, In... ORPHA:2117
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... OMIM:618805
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Cofs Syndrome
Microphthalmia, Short stature, Camptodactyly of finger, Intrauterine growth retardation ORPHA:1466
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Biliary tract abnormality, Membranous subvalvular aortic stenosis... ORPHA:3191
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Sandal gap, Pulmonary arterial hypertension, Atrial septa... OMIM:300887
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphysea... OMIM:300863
Trisomy 1Q
Omphalocele, Frontal bossing, Anophthalmia, Arachnodactyly, Ventricular septal defect, Toe syndac... ORPHA:261344
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly OMIM:610023
Nanophthalmos 4
Microphthalmia OMIM:615972
Hydrolethalus
Anophthalmia, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia ORPHA:2189
Pierpont Syndrome
Short stature, Short toe, Brachycephaly, Short foot, Short finger, Short palm, Prominent fingerti... OMIM:602342
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Hepatomegaly, Anophthalmia, Abnormal morphology of the radius, Hiatus hernia, Ab... ORPHA:2538
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal morphology of the radius ORPHA:3469
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... OMIM:611134
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Short stature, Delayed puberty ORPHA:141333
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Intrauterine growth retardation ORPHA:90322
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia, Ventricular septal defect ORPHA:77298
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Brachycephaly, Microphthalmia, Coronal craniosynostosis, Calvaria... ORPHA:228390
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia, Abnormal thumb morphology OMIM:614082
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Inguinal hernia, Midface retrusion ORPHA:1135
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pierpont Syndrome
Short toe, Brachycephaly, Short finger, Prominent fingertip pads, Microphthalmia ORPHA:487825
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra... OMIM:615665
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calc... ORPHA:163966
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Temtamy Syndrome
Brachydactyly, Short toe, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Genu varum ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Camptodactyly of finger, Intrauterine growth retardation ORPHA:48431
Seckel Syndrome 2
Short stature, Heart murmur, Growth delay, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary ... ORPHA:974
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:618804
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... OMIM:605627
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Ring Chromosome 10 Syndrome
Frontal bossing, Sandal gap, Tapered finger, Microphthalmia, Intrauterine growth retardation ORPHA:1438
Bresek Syndrome
Optic nerve hypoplasia, Postaxial hand polydactyly, Plagiocephaly, Growth delay, Microphthalmia, ... ORPHA:85284
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Holoprosencephaly
Omphalocele, Frontal bossing, Encephalocele, Anophthalmia, Flat occiput, Ventricular septal defec... ORPHA:2162
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Growth delay OMIM:308350
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy OMIM:613155
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Anterior basal encephalocele, Radial deviation of finger, Camptodacty... OMIM:136760
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Spina bifida, Hypoplasia of the radius, Microphthalmia, Intrauteri... ORPHA:3412
Meckel Syndrome
Accessory spleen, Encephalocele, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Asp... ORPHA:564
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Sandal gap, Lens coloboma, 2-3 toe syndactyly, Umbilical hernia, Joint contractu... OMIM:618914
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphth... OMIM:618652
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Hepatomegaly OMIM:613730
Osteoporosis-Pseudoglioma Syndrome
Frontal bossing, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, Micr... ORPHA:2788
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Duplication of phalanx of hal... OMIM:243310
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypopl... OMIM:206900
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect, Polydactyly, Syndactyly OMIM:602501
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Short stature, Bilateral microphthalmos, Brachycephaly, Ab... ORPHA:369891
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Frontal bossing, Camptodactyly of finger, Symphalangism affecting the phalanges o... ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia, Short stature OMIM:600118
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Growth delay, Microphthalmia, Intrauterine growth re... OMIM:610756
Baraitser-Winter Syndrome 2
Trigonocephaly, Microphthalmia, Short stature OMIM:614583
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Anophthalmia ORPHA:899
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Cranial asymmetry, Pulmonic stenosis... ORPHA:137634
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral micropht... OMIM:607597
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Coxa valga, Slender finger, Brachycephaly, Hemiatrophy of upper limb, Abnormal f... ORPHA:163649
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Short stature, Toe syndactyly, Brachycephal... ORPHA:264200
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Postnatal growth retardation, Hyperten... ORPHA:90321
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Ventricular septal defect, Postnatal growth retardation, Abnormal heart morpholo... ORPHA:494344
Joubert Syndrome 37
Frontal bossing, Hepatomegaly, Short stature, Postaxial polydactyly, Microphthalmia OMIM:619185
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Martsolf Syndrome 1
Inguinal hernia, Short metacarpal, Short stature, Cardiac arrest, Metatarsus adductus, Congestive... OMIM:212720
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Frontal bossing, Unilateral microphthalmos, Hepatomegaly OMIM:615085
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, ... ORPHA:335
Fetal Alcohol Syndrome
Short stature, Biparietal narrowing, Atrial septal defect, Microphthalmia, Intrauterine growth re... ORPHA:1915
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Asplenia,... ORPHA:99776
Monosomy 18P
Short stature, Brachycephaly, Hypertension, Microphthalmia, Brachydactyly ORPHA:1598
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Absent thumb, Short thumb, Shor... OMIM:609053
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Heart murmur, Atrial septal defect, Microphthalmia, Intrauterine gr... ORPHA:2728
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... ORPHA:435638
Frontonasal Dysplasia 3
Microphthalmia, Brachycephaly OMIM:613456
Frontofacionasal Dysplasia
Encephalocele, Short stature, Brachycephaly, Microphthalmia, Midface retrusion ORPHA:1791
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Absent distal phalanges, Micropht... OMIM:619339
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Short stature OMIM:619318
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Tricuspid regurgitation, Severe short stature, Dilated cardiomyopathy, Mitral valve... ORPHA:2556
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int... OMIM:300166
Temtamy Syndrome
Aortic regurgitation, Frontal bossing, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachy... OMIM:218340
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia, Brachycephaly, Camptodactyly OMIM:611961
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Tricuspid regurgitation, Bowing of the long bones, Postaxial... OMIM:619879
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-... ORPHA:85194
Cerebrooculofacioskeletal Syndrome 4
Short stature, Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared meta... OMIM:610758
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Brachycephaly, Abnormal hea... ORPHA:404440
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Brachycephaly OMIM:612379
Marden-Walker Syndrome
Inguinal hernia, Arachnodactyly, Dextrocardia, Postnatal growth retardation, Radioulnar synostosi... OMIM:248700
1Q21.1 Microdeletion Syndrome
Frontal bossing, Inguinal hernia, Broad hallux phalanx, Short stature, Toe syndactyly, Short foot... ORPHA:250989
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Camptodactyly OMIM:619694
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Sandal gap, 3-4 finger cutaneous synda... OMIM:612530
Frontonasal Dysplasia 2
Encephalocele, Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Microp... OMIM:613451
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping fingers, Ventricular septal defect, Overlapping toe, Abnorm... OMIM:618494
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Meningocele, Intracranial hemorr... OMIM:614424
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Prominent occiput, Growth delay, Hand clenchi... OMIM:616920
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Short stature, Overlapping toe, Abnormal heart morphology, Dolichocephaly, Micro... OMIM:618571
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Frontal bossing, Elevated hepatic transaminase, Craniosynostosis, Portal hypert... OMIM:620005
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... ORPHA:1553
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Overlapping toe, Tapered finger, Short thumb, Anencephaly, Brachyce... OMIM:619148
Trichothiodystrophy 3, Photosensitive
Trigonocephaly, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly OMIM:167730
Moebius Syndrome
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Talipes equinovarus, Lower limb undergrowth,... OMIM:157900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Frontal bossing, Postnatal growth retardation, Small hand, Short foot, Severe intrauterine growth... OMIM:241410
Cat Eye Syndrome
Ventricular septal defect, Short stature, Absent radius, Biliary atresia, Umbilical hernia, Hypop... OMIM:115470
Galloway-Mowat Syndrome 3
Frontal bossing, Short stature, Arachnodactyly, Hiatus hernia, Hypertension, Camptodactyly, Micro... OMIM:617729
Mosaic Trisomy 1
Omphalocele, Frontal bossing, Hepatic agenesis, Long toe, Ventricular septal defect, Arachnodacty... ORPHA:1692
Microcephaly-Micromelia Syndrome
Micromelia, Craniosynostosis, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, ... OMIM:251230
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, ... OMIM:610829
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Short stature, Congestive heart failure, Umbilical hernia, Microphthalmia ORPHA:2505
Refsum Disease
Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy, Hammertoe, Microphthalmia ORPHA:773
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Biparietal narrowing, An... ORPHA:251038
Focal Dermal Hypoplasia
Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifida occulta, Sho... OMIM:305600
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Pseudotrisomy 13 Syndrome
Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... OMIM:264480
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature, Brachycephaly OMIM:615663
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Frontal bossing, Broad hallux OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Short thumb, Atrial sept... OMIM:244300
Charge Syndrome
Brachydactyly, Anophthalmia, Short stature, Postnatal growth retardation, Abnormal tibia morpholo... ORPHA:138
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia ORPHA:2250
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Ulnar bowing, Shortening of all distal phal... OMIM:619135
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Fing... ORPHA:251014
Gracile Bone Dysplasia
Short stature, Asplenia, Flared metaphysis, Aniridia, Microphthalmia, Hypoplastic spleen, Brachyd... OMIM:602361
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Second metatarsal posteriorly placed, Camptodactyly, Microphthalmia OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Frontal bossing, Short stature, Clinodactyly of the 5th finger OMIM:617306
Hallermann-Streiff Syndrome
Frontal bossing, Spina bifida, Proportionate short stature, Metaphyseal widening, Scaphocephaly, ... OMIM:234100
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Teebi-Shaltout Syndrome
Syndactyly, Turricephaly, Ulnar deviation of the hand, Ventricular septal defect, Short stature, ... OMIM:272950
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Bilateral microph... OMIM:219000
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Joubert Syndrome 21
Encephalocele, Splenomegaly, Occipital encephalocele, Anophthalmia OMIM:615636
Oculofaciocardiodental Syndrome
Short thumb, 2-3 toe syndactyly, Mitral valve prolapse, Genu valgum, Hammertoe, Abnormal cardiac ... ORPHA:2712
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Trisomy 18
Omphalocele, Ventricular septal defect, Short stature, Spina bifida, Camptodactyly of finger, Pos... ORPHA:3380
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Severe postnatal growth retardation, Dolichocephaly, Clinodactyly of th... ORPHA:2399
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pu... OMIM:100300
Warburg Micro Syndrome 2
Overlapping toe, Postnatal growth retardation, Brachycephaly, Microphthalmia, Clinodactyly of the... OMIM:614225
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Scaphocephaly, Cranial asymmetry, Growth delay, Atr... OMIM:614886
Charge Syndrome
Anophthalmia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Hypoplasia o... OMIM:214800
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Brachycephaly OMIM:614222
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Growth delay, Biparietal narrowing, Microphtha... ORPHA:2612
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Flat occiput OMIM:152950
Galloway-Mowat Syndrome 1
Flat occiput, Short stature, Hiatus hernia, Slender finger, Hypoplasia of the iris, Talipes equin... OMIM:251300
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Short stature, Proximal placement of thumb OMIM:617883
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, ... OMIM:257850
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac... OMIM:601707
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, 2-3 toe syndactyly, Pulmonary arterial hypertension, ... OMIM:616449
Focal Dermal Hypoplasia
Acute hepatic failure, Omphalocele, Inguinal hernia, Finger syndactyly, Ventricular septal defect... ORPHA:2092
Jacobsen Syndrome
Atrial septal defect, Brachydactyly, Flat occiput, Ventricular septal defect, Macular hypoplasia,... OMIM:147791
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Inguinal hernia, Overlapping fingers, Ventricular septal defect, Overlapping t... ORPHA:464738
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Brachycephaly, Plagiocephaly,... OMIM:607932
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Short stature, Arachnodactyly, Tapered finger, Sand... ORPHA:193
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, 2-3 toe syndactyly, Joint contracture of the 5th finger, Prominent fingertip pad... OMIM:620098
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Adams-Oliver Syndrome 2
Microphthalmia, Absent distal phalanges, Short middle phalanx of finger OMIM:614219
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Fraser Syndrome
Omphalocele, Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Myelomeningocele, Um... ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... OMIM:253800
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Cousin Syndrome
Frontal bossing, Rhizomelia, Dislocation of the femoral head, 4-5 toe syndactyly, Disproportionat... OMIM:260660
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Proboscis, Microphthalmia ORPHA:141099
Fanconi Anemia, Complementation Group F
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Atrial... OMIM:603467
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Short stature, Severe postnatal growth retardation, Talipes equinovarus, Microph... ORPHA:35173
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... OMIM:300952
Fanconi Anemia
Abnormal femur morphology, Abnormality of the liver, Triphalangeal thumb, Atrial septal defect, C... ORPHA:84
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Radial dysplasia, Absent thumb OMIM:617244
Myhre Syndrome
Brachydactyly, Ventricular septal defect, Short stature, Overlapping toe, Pericardial effusion, C... OMIM:139210
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization ORPHA:891
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Opti... OMIM:607323
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Inguinal hernia, Ventricular septal defect, Overlapping toe, Growth delay, Umbil... OMIM:613884
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Stippled calcif... OMIM:302960
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Pelvis-Shoulder Dysplasia
Syndactyly, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb short... ORPHA:2839
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand monodactyly, Atrial sept... OMIM:609945
22Q11.2 Deletion Syndrome
Atrial septal defect, Short stature, Arachnodactyly, Spina bifida, Multiple suture craniosynostos... ORPHA:567
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Micro Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:2510
Mend Syndrome
Overlapping fingers, Short stature, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndacty... ORPHA:401973
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Short tibia, Preaxial polydactyly,... OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Absent gallbladder, Postaxial polydactyly, Complete atrioventricular canal defec... OMIM:617925
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia, Ventricular septal defect OMIM:234050
Kapur-Toriello Syndrome
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal occipital bone morphology, Cardiomegaly, Ab... ORPHA:3472
Basal Cell Nevus Syndrome 1
Frontal bossing, Spina bifida, Irregular ossification of hand bones, Cardiac fibroma, Cardiac rha... OMIM:109400
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Joubert Syndrome 2
Encephalocele, Frontal bossing, Postaxial hand polydactyly, Postaxial foot polydactyly, Dolichoce... OMIM:608091
Atelis Syndrome 2
Frontal bossing, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Micropht... OMIM:620185
Frontorhiny
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Momo Syndrome
Frontal bossing, Short stature, Bilateral microphthalmos, Brachycephaly, Femoral bowing, Large hands ORPHA:2563
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Branchiooculofacial Syndrome
Anophthalmia, Proximal placement of thumb, Postnatal growth retardation, Short thumb, Preaxial ha... OMIM:113620
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Metaphyseal spurs, ... ORPHA:85167
Incontinentia Pigmenti
Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Congestive... ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Microphthalmia, Broad thumb ORPHA:1236
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Frontal bossing, Short stature, Growth delay, Clinodactyly of the 5th finge... ORPHA:1052
Hallermann-Streiff Syndrome
Frontal bossing, Proportionate short stature, Congestive heart failure, Small hand, Brachycephaly... ORPHA:2108
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia, Brachycephaly OMIM:156610
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Premature Aging Syndrome, Penttinen Type
Frontal bossing, Brachydactyly, Tibial bowing, Short foot, Osteolytic defects of the distal phala... OMIM:601812
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Short stature, Clinodactyly of... ORPHA:1587
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Short stature, Absent thumb, Absent radius, Short thumb, Microphthalmi... OMIM:227645
Holoprosencephaly 7
Omphalocele, Frontal bossing, Flat occiput, Occipital meningocele, Bilateral microphthalmos, Cran... OMIM:610828
3Q29 Microdeletion Syndrome
Tapered finger, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Clinodactyly of the... ORPHA:65286
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Short stature, Broad hallux, Clinodactyly, Pulmonary arterial hypertension, Prolo... OMIM:620186
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Short stature, Toe syndactyly,... OMIM:146510
Oculo-Palato-Cerebral Syndrome
Short stature, Small hand, Short foot, Microphthalmia, Intrauterine growth retardation ORPHA:2714
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Accessory spleen, Syndactyly, Malformation of the hepatic duct... OMIM:249000
Fanconi Anemia, Complementation Group E
Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi... OMIM:600901
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Short stature, Brachycephaly, Microphthalmia, Broad thumb, Short distal phalanx... OMIM:201180
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Microphthalmia, Adducted thumb OMIM:614643
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Absent gallbladder, Hypoplasia of the ulna, Hypoplasia of the ra... OMIM:184705
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Fanconi Anemia, Complementation Group A
Short stature, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmi... OMIM:227650
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of... ORPHA:3186
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Fontaine Progeroid Syndrome
Atrial septal defect, Turricephaly, Tricuspid regurgitation, Bicuspid aortic valve, Short stature... OMIM:612289
Frontofacionasal Dysplasia
Brachycephaly, Cranium bifidum occultum, Microphthalmia, Midface retrusion, Hypoplasia of the fro... OMIM:229400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Syndactyly, Ventricular septal defect, Short stature, Clinodactyly of the 5th fi... OMIM:616975
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Fryns Syndrome
Omphalocele, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Microphthalmia, ... ORPHA:2059
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Atria... OMIM:309801
Degcags Syndrome
Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Hepatomegaly, Syndac... OMIM:619488
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Ivory epiphyses o... OMIM:133540
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Rothmund-Thomson Syndrome, Type 2
Frontal bossing, Short stature, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equi... OMIM:268400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia, Lenz Type
Finger syndactyly, Short stature, Camptodactyly of finger, Clinodactyly of the 5th finger, Microp... ORPHA:568
Monosomy 9Q22.3
Cardiac fibroma, Umbilical hernia, Polydactyly, Trigonocephaly, Microphthalmia ORPHA:77301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Encephalocele, Postaxial hand polydactyly, Abnormal cardiac septum morphology, Umbil... ORPHA:2166
Bartsocas-Papas Syndrome 1
Omphalocele, Syndactyly, Inguinal hernia, Short metacarpal, Absent thumb, Absent radius, Short th... OMIM:263650
Ohdo Syndrome, X-Linked
Inguinal hernia, Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Long t... OMIM:300895
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Adducted thumb, Short stature, Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Dubowitz Syndrome
Syndactyly, Inguinal hernia, Short stature, Postnatal growth retardation, Hypoplasia of the iris,... OMIM:223370
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... OMIM:609128
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly OMIM:618727
Fanconi Anemia, Complementation Group D2
Short stature, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli... OMIM:227646
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Mi... ORPHA:364577
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Growth delay, Camptodactyly, Microphthalmia OMIM:614230
Aicardi Syndrome
Hiatus hernia, Small hand, Plagiocephaly, Delayed puberty, Hepatoblastoma, Microphthalmia ORPHA:50
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic... OMIM:101400
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature, Telangiectasia OMIM:601675
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect,... OMIM:236680
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Brachycephaly, Prominent fingertip pads, Atrial septal defect, Clinodactyl... OMIM:612474
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Treacher-Collins Syndrome
Encephalocele, Frontal bossing, Branchial fistula, Brachycephaly, Microphthalmia, Midface retrusion ORPHA:861
8Q24.3 Microdeletion Syndrome
Branchial cyst, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Atrioventricular... ORPHA:508488
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Cranium bifidum occultum, Microphthalmia, Tetralogy... ORPHA:306542
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Spina bifida, M... OMIM:256520
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Growth delay, Bilateral talipes equinovarus, Microphthalmia, Intraut... OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Corneal neovascularization, Telangiectasia OMIM:278730
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... OMIM:608670
Papillorenal Syndrome
Microphthalmia, Hypertension, Short stature OMIM:120330
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Sub... ORPHA:90324
8Q21.11 Microdeletion Syndrome
Microphthalmia, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology ORPHA:284160
Oculodentodigital Dysplasia
Clinodactyly, 4-5 finger syndactyly, Joint contracture of the 5th finger, Atrial septal defect, M... OMIM:164200
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Trichothiodystrophy
Ventricular septal defect, Craniosynostosis, Bilateral microphthalmos, Clubbing, Cardiomyopathy, ... ORPHA:33364
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Brachyc... ORPHA:261112
Holoprosencephaly 1
Short stature, Proboscis, Microphthalmia, Midface retrusion, Single ventricle OMIM:236100
Stromme Syndrome
Accessory spleen, Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia OMIM:243605
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Fryns Syndrome
Omphalocele, Prominent fingertip pads, Ectopic pancreatic tissue, Ventricular septal defect, Rock... OMIM:229850
Phace Association
Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia OMIM:606519
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Situs inversus totalis, Brachycephaly, Clinodactyly of ... OMIM:309500
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Aicardi Syndrome
Spina bifida, Hiatus hernia, Postnatal growth retardation, Proximal placement of thumb, Hepatobla... OMIM:304050
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Foot polydactyly, Short palm ORPHA:268249
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry, Growth delay OMIM:163200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Severe short stature, Optic nerve hypoplasia, Craniosynostosis, Abnormal o... ORPHA:468631
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... OMIM:609049
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature, Retinal hemorrhage OMIM:308300
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Partial duplication of thumb ph... OMIM:164210
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Short ... ORPHA:672
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature, Abnormality of the medullary cavity of the l... OMIM:127000
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Atrial septal defect, Accessory spleen, Syndactyly, Hypoplasia of the ulna, Aplasi... OMIM:268300
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Severe short stature, Postnatal growth retardation, ... ORPHA:191
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Inguinal hernia, Midface retrusion OMIM:603457
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mi... OMIM:259770
Witteveen-Kolk Syndrome
Proximal placement of thumb, Intracranial hemorrhage, Short palm, Clinodactyly of the 5th finger,... OMIM:613406
Oculocerebrorenal Syndrome Of Lowe
Frontal bossing, Inguinal hernia, Flat occiput, Short stature, Genu valgum, Buphthalmos, Umbilica... ORPHA:534
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Bicuspid aortic valve, Growth delay, Radial deviation of finger, Campto... OMIM:309800
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Short stature, Tapered finger, ... OMIM:619539
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the ... OMIM:616734
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Short stature, Abnormal pulmonary valve m... ORPHA:857
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Broad hallux, Arachnodactyly, Short finger OMIM:601552
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Midface retrusion OMIM:253280
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Gastroschisis OMIM:273395
Wiedemann-Rautenstrauch Syndrome
Long toe, Frontal bossing, Hepatic steatosis, Short femur, Optic disc hypoplasia, Short stature, ... ORPHA:3455
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 2
Microphthalmia, Midface retrusion, Proboscis, Single ventricle OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Sho... ORPHA:261552
Mowat-Wilson Syndrome
Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Long toe, Syndactyly, Short stature, B... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Sho... ORPHA:261537
Mowat-Wilson Syndrome
Ventricular septal defect, Short stature, Abnormal heart morphology, Pulmonic stenosis, Atrial se... OMIM:235730
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Postnatal growth retardation, Genu valgum, Finger swellin... OMIM:309000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty ORPHA:649

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 Rexo1

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 Rexo1.

No publications found that use IMPC mice or data for Rexo1.

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
Rexo1em1(IMPC)J Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter