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Gene: Faf2 MGI:1923827

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Gene Summary

Name:
Fas associated factor family member 2
Synonyms:
Ubxd8,  2210404D11Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta vasculature Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Faf2em1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Faf2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Faf2em1(IMPC)Mbp HET E9.5 0.00
abnormal allantois morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
edema Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal midbrain development Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal hindbrain development Faf2em1(IMPC)Mbp HOM E9.5 0.00
microphthalmia Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube closure Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Faf2em1(IMPC)Mbp HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

9 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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Human diseases caused by Faf2 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 Faf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Edema OMIM:616570
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... OMIM:615583
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Delayed puberty, Short stature ORPHA:141333
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Pulmonic stenosis, Abnormal mitral valve morphology, Short stature ORPHA:1131
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Nanophthalmos
Microphthalmia ORPHA:35612
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia ORPHA:324416
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hartsfield Syndrome
Intrauterine growth retardation, Lobar holoprosencephaly, Microphthalmia, Encephalocele ORPHA:2117
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion OMIM:613885
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Ascites ORPHA:858
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Chorioretinal colob... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Increased nuch... ORPHA:453499
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retar... OMIM:611134
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Mmep Syndrome
Microphthalmia ORPHA:3434
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Tricuspid regurgita... ORPHA:261337
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation OMIM:300863
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele ORPHA:228390
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus ORPHA:2189
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Branchial cyst, Optic disc coloboma ORPHA:2260
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retard... ORPHA:261330
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Growth delay, Intrauterine growth retardation ORPHA:85284
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:352665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Hydrocephalus, Ascites, Short stature OMIM:602361
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation ORPHA:163966
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Bor Syndrome
Branchial cyst ORPHA:107
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Monosomy 18P
Short stature, Microphthalmia, Lymphedema, Holoprosencephaly ORPHA:1598
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Edema, Umbilical hernia ORPHA:2505
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature ORPHA:290
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia OMIM:602501
Pierpont Syndrome
Microphthalmia ORPHA:487825
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Spina bifida occulta, Truncus arterio... ORPHA:508488
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Short stature, Mitral stenosis, Spinal dysraphism, Atrial septal defect, H... OMIM:617660
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Adams-Oliver Syndrome 2
Hydrocephalus, Microphthalmia, Oligohydramnios OMIM:614219
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Polyhydramnios, Anophthalmia, Hydrocephalus, Spina bifida, I... ORPHA:3412
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly ORPHA:77298
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele, Iris coloboma ORPHA:861
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi... ORPHA:3378
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Short stature, Natal tooth, Optic disc col... OMIM:620186
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay OMIM:606744
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Growth delay OMIM:614424
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microphthalmia, Growth delay OMIM:617244
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:618494
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Aqueductal stenosis, Microphthalmia, Oligohydramnios OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microphthalmia, Abnormally large globe OMIM:615249
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:494344
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Increased nuchal translucency, Holoprosencephaly, Oligoh... OMIM:619879
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele OMIM:613451
Mosaic Trisomy 9
Microphthalmia, Hydrops fetalis, Polyhydramnios, Spina bifida, Intrauterine growth retardation, O... ORPHA:99776
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Iniencephaly
Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Cystic hyg... ORPHA:63259
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616395
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Adams-Oliver Syndrome
Hydrocephalus, Microphthalmia, Ascites, Encephalocele ORPHA:974
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:609053
Baraitser-Winter Syndrome 1
Short stature, Microphthalmia, Postnatal growth retardation OMIM:243310
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mes... ORPHA:2839
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Microphthalmia, Polyhydramnios, Septo-optic dysplasia ORPHA:3301
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Garg-Mishra Progeroid Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:620601
Galloway-Mowat Syndrome 3
Microphthalmia, Short stature, Intrauterine growth retardation, Oligohydramnios, Edema OMIM:617729
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrau... ORPHA:3380
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... OMIM:153400
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Polyhydramnios, Encephalocele, Hydrocephalus, Holoprosencephaly, Umbilical hernia ORPHA:2166
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:2728
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Rhizomelia, Edema OMIM:302960
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Microphthalmia/Coloboma 12
Growth delay, Microphthalmia, Optic nerve aplasia OMIM:120200
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:248700
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrau... OMIM:113620
Micro Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:2510
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia, Holoprosencephaly OMIM:612530
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature OMIM:603467
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:253800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Temtamy Syndrome
Microphthalmia OMIM:218340
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Moebius Syndrome
Microphthalmia OMIM:157900
Pseudotrisomy 13 Syndrome
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:264480
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... OMIM:164210
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency, Short stature, Growth del... ORPHA:1052
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Anophthalmia ORPHA:899
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morpholo... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morpholo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morpholo... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Growth delay, Short stature, Abnormal heart morpholo... ORPHA:93924
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Witteveen-Kolk Syndrome
Growth delay, Short stature, Intracranial hemorrhage, Intrauterine growth retardation, Branchial ... OMIM:613406
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Lobar holoprosencephaly,... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Joubert Syndrome 2
Hydrocephalus, Microphthalmia, Encephalocele OMIM:608091
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Cousin Syndrome
Microphthalmia, Rhizomelia, Hydranencephaly, Hydrocephalus, Disproportionate short stature OMIM:260660
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine growth retardation, Oligohydr... OMIM:251300
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:250989
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Microphthalmia, Severe postnatal growth retardation ORPHA:35173
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc... OMIM:236670
Papillorenal Syndrome
Short stature, Microphthalmia, Edema OMIM:120330
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios ORPHA:364577
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... OMIM:609049
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ... OMIM:610828
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Microphthalmia, Hydrops fetalis ORPHA:268249
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:2714
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi... OMIM:256520
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cohen Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:193
Refsum Disease
Microphthalmia ORPHA:773
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia ORPHA:2092
Martsolf Syndrome 1
Short stature, Microphthalmia OMIM:212720
Jacobsen Syndrome
Microphthalmia, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Macular hypopl... OMIM:147791
Cat Eye Syndrome
Short stature, Microphthalmia, Umbilical hernia OMIM:115470
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Edema ORPHA:2526
Mosaic Trisomy 1
Microphthalmia, Polyhydramnios, Increased nuchal translucency ORPHA:1692
Monosomy 9Q22.3
Hydrocephalus, Microphthalmia, Umbilical hernia ORPHA:77301
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Incontinentia Pigmenti
Short stature, Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Fanconi Anemia, Complementation Group L
Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Growth delay OMIM:614083
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Basal Cell Nevus Syndrome 1
Hydrocephalus, Microphthalmia, Spina bifida OMIM:109400
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Hydrocephalus, Intrauterine... OMIM:249000
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia, Holoprosencephaly, Short stature ORPHA:1587
Fanconi Anemia
Microphthalmia, Hydrocephalus, Spina bifida, Short stature, Growth delay, Umbilical hernia, Intra... ORPHA:84
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia OMIM:601675
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Rhizomelia, Encephalocele OMIM:616300
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Pallister-Hall Syndrome
Microphthalmia, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth retardation OMIM:146510
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Stromme Syndrome
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine... OMIM:223370
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:227645
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microphthalmia OMIM:610832
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia OMIM:608940
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Holoprosencephaly, Umbilical hernia OMIM:613884
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Histiocytoid Cardiomyopathy
Hydrocephalus, Pulmonary edema, Microphthalmia, Congenital aphakia ORPHA:137675
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Holoprosencephaly 9
Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Sh... OMIM:610829
Charge Syndrome
Postnatal growth retardation, Aqueductal stenosis, Delayed puberty, Microphthalmia, Polyhydramnio... ORPHA:138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Microphthalmia, Severe short stature ORPHA:85167
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Short stature, Severe short stature, Intrauterine growth ... OMIM:601186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Hydrolethalus Syndrome 1
Microphthalmia, Polyhydramnios, Anencephaly, Severe hydrocephalus, Intrauterine growth retardation OMIM:236680
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Microphthalmia, Spina bifida ORPHA:508498
22Q11.2 Deletion Syndrome
Microphthalmia, Polyhydramnios, Meningocele, Hydrocephalus, Spina bifida, Short stature, Umbilica... ORPHA:567
Cockayne Syndrome B
Postnatal growth retardation, Normal pressure hydrocephalus, Microphthalmia, Hypoplasia of the ir... OMIM:133540
Fanconi Anemia, Complementation Group E
Short stature, Microphthalmia OMIM:600901
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Fanconi Anemia, Complementation Group A
Short stature, Microphthalmia OMIM:227650
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation ORPHA:3103
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Microphthalmia, Dehydration, Short stature, Umbilical hernia, Joint swelling, Bu... ORPHA:534
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Teebi-Shaltout Syndrome
Short stature, Microphthalmia OMIM:272950
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... ORPHA:798
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Microphthalmia, Short stature OMIM:309801
Myhre Syndrome
Microphthalmia, Short stature, Pericardial effusion, Intrauterine growth retardation, Birth lengt... OMIM:139210
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly OMIM:184705
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Microphthalmia, Short stature OMIM:227646
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:608670
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Incontinentia Pigmenti
Short stature, Microphthalmia, Hypoplasia of the fovea OMIM:308300
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Fontaine Progeroid Syndrome
Microphthalmia, Hydrocephalus, Short stature, Umbilical hernia, Intrauterine growth retardation, ... OMIM:612289
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Yunis-Varon Syndrome
Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Hydrops fetalis, Polyhydr... ORPHA:3472
Mend Syndrome
Hydrocephalus, Microphthalmia, Short stature ORPHA:401973
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine... ORPHA:93325
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia, Severe postnatal growth retardation OMIM:620005
Microphthalmia With Limb Anomalies
Hydrocephalus, Microphthalmia, True anophthalmia, Short stature ORPHA:1106
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia, Lobar holoprosencephaly, Severe short stature, ... ORPHA:468631
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616975
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature OMIM:127000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Holoprosencephaly 1
Short stature, Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Severe short stature ORPHA:2556
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Atelis Syndrome 2
Microphthalmia OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Hydrocephalus, Myelomeningocele, Sh... OMIM:305600
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Short stature, Umbilical hernia, Phthisis bulbi OMIM:300166
Fryns Syndrome
Chylothorax, Microphthalmia, Polyhydramnios OMIM:229850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Holoprosencephaly ORPHA:3186
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Microphthalmia ORPHA:90324
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature ORPHA:191
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia, Polyhydramnios OMIM:619488
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Anophthalmia, Unil... OMIM:214800
Neuroocular Syndrome
Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Holoprosencephaly, Anophthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Pallister-Hall Syndrome
Microphthalmia, Short stature, Holoprosencephaly, Umbilical hernia, Intrauterine growth retardati... ORPHA:672
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele OMIM:219000
Traboulsi Syndrome
Microphthalmia OMIM:601552
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Monosomy 9P
Microphthalmia ORPHA:261112
Tetraamelia Syndrome 1
Hydrocephalus, Microphthalmia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Microphthalmia, Polyhydramnios, Hydrocephalus, Severe intrauterine ... OMIM:268300
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Norrie Disease
Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:175780
Mowat-Wilson Syndrome
Short stature, Microphthalmia OMIM:235730
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Short stature ORPHA:857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Short stature, Microphthalmia, Growth delay ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Microphthalmia ORPHA:261552
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800

Histopathology

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

There is no histopathology data for Faf2

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 Faf2.

No publications found that use IMPC mice or data for Faf2.

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MGI Allele Allele Type Produced
Faf2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Faf2tm299850(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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