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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
embryonic growth retardation Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal vitelline vasculature morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Faf2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Faf2em1(IMPC)Mbp HET E15.5 0.00
abnormal pharyngeal arch morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Faf2em1(IMPC)Mbp HOM 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
embryonic growth retardation Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Faf2em1(IMPC)Mbp HET E9.5 0.00
abnormal heart morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Faf2em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning 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 blood vessel morphology 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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MicroCT E9.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

36 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
Microphthalmia, Delayed puberty OMIM:233270
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos 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, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... OMIM:615583
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty ORPHA:141333
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Nanophthalmos
Microphthalmia ORPHA:35612
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Lobar holoprosencephaly ORPHA:2117
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation ORPHA:858
Microphthalmia, Isolated, With 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
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retar... OMIM:611134
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Hydrocephalus, Optic disc ... ORPHA:261337
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation OMIM:300863
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios 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
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia ORPHA:2189
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Hypertension ORPHA:2260
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... ORPHA:261330
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Growth delay, Microphthalmia, Intrauterine growth retardation ORPHA:85284
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
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
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation ORPHA:163966
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Gracile Bone Dysplasia
Short stature, Hydrocephalus, Aniridia, Microphthalmia, Ascites OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Monosomy 18P
Microphthalmia, Short stature, Holoprosencephaly, Lymphedema ORPHA:1598
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Bor Syndrome
Branchial cyst ORPHA:107
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Short stature, Edema ORPHA:2505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus OMIM:602501
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Pierpont Syndrome
Microphthalmia ORPHA:487825
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... OMIM:617660
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Oligohydramnios OMIM:614219
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia ORPHA:77298
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia, I... ORPHA:3412
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Iris coloboma ORPHA:861
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Optic disc coloboma, Atrial septal defect, Pulmonary ... OMIM:620186
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
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
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Microphthalmia OMIM:614424
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Hydrocephalus OMIM:617244
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:251230
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Holoprosencephaly, Microphthalmia, Oligoh... OMIM:619879
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... ORPHA:99776
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:613451
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Joubert Syndrome 37
Microphthalmia, Short stature OMIM:619185
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Ascites ORPHA:974
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Fanconi Anemia, Complementation Group I
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Microphthalmia, Short stature OMIM:243310
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro... ORPHA:2839
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Polyhydramnios ORPHA:3301
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos, Short stature ORPHA:369891
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Microphthalmia, Intrau... ORPHA:3380
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Microphthalmia ORPHA:2166
Galloway-Mowat Syndrome 3
Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation OMIM:617729
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:2728
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia OMIM:302960
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:248700
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Retinal colo... OMIM:113620
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Micro Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus OMIM:613150
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature, Holoprosencephaly OMIM:612530
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group F
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation OMIM:603467
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly, Short stature OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Temtamy Syndrome
Microphthalmia OMIM:218340
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:264480
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Moebius Syndrome
Microphthalmia OMIM:157900
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Bran... OMIM:164210
Mosaic Variegated Aneuploidy Syndrome
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Holoprosencephaly, Mi... ORPHA:1052
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Meckel Syndrome
Encephalocele, Anophthalmia, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Aplasia/Hypopla... ORPHA:564
Walker-Warburg Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:614643
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93924
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... OMIM:613406
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Cousin Syndrome
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microphthalmia OMIM:260660
Galloway-Mowat Syndrome 1
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... OMIM:251300
Joubert Syndrome 2
Encephalocele, Microphthalmia, Hydrocephalus OMIM:608091
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, Short stature ORPHA:35173
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
1Q21.1 Microdeletion Syndrome
Microphthalmia, Hydrocephalus, Short stature, Intrauterine growth retardation ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... OMIM:236670
Papillorenal Syndrome
Microphthalmia, Short stature, Edema OMIM:120330
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:364577
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Hydrops fetalis ORPHA:268249
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop... OMIM:610828
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Refsum Disease
Microphthalmia ORPHA:773
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:193
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida ORPHA:2092
Jacobsen Syndrome
Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:147791
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Cat Eye Syndrome
Microphthalmia, Umbilical hernia, Short stature OMIM:115470
Mosaic Trisomy 1
Microphthalmia, Increased nuchal translucency, Polyhydramnios ORPHA:1692
Martsolf Syndrome 1
Microphthalmia, Short stature OMIM:212720
Monosomy 9Q22.3
Microphthalmia, Hydrocephalus, Umbilical hernia ORPHA:77301
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Hydrocephalus, Intrauterine growth retardation OMIM:614083
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature ORPHA:464
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Microphthalmia, Intrauterine... OMIM:249000
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Monosomy 13Q14
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation ORPHA:1587
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Basal Cell Nevus Syndrome 1
Microphthalmia, Hydrocephalus, Spina bifida OMIM:109400
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature OMIM:601675
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris, Growth delay, Umbilic... ORPHA:84
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia, Rhizomelia OMIM:616300
Microphthalmia, Lenz Type
Microphthalmia, Short stature ORPHA:568
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Pallister-Hall Syndrome
Microphthalmia, Short stature, Holoprosencephaly, Intrauterine growth retardation OMIM:146510
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Stromme Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:243605
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:227645
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... OMIM:610829
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... OMIM:223370
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Polyhydramnios, Hydrocephalus, Meningocele, Occipital myelomeningoce... ORPHA:567
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia, Pulmonary edema ORPHA:137675
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia, Holoprosencephaly OMIM:613884
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Microphthalmia, Syndromic 9
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... OMIM:601186
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Hydrolethalus Syndrome 1
Polyhydramnios, Anencephaly, Severe hydrocephalus, Microphthalmia, Intrauterine growth retardation OMIM:236680
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Normal pressure hydro... OMIM:133540
Charge Syndrome
Anophthalmia, Short stature, Polyhydramnios, Aqueductal stenosis, Postnatal growth retardation, H... ORPHA:138
2Q31.1 Microdeletion Syndrome
Microphthalmia, Short stature ORPHA:251014
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature OMIM:227650
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios ORPHA:3103
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly OMIM:184705
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Oculocerebrorenal Syndrome Of Lowe
Short stature, Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Delayed puberty, Micro... ORPHA:534
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Teebi-Shaltout Syndrome
Microphthalmia, Short stature OMIM:272950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Short stature OMIM:309801
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... ORPHA:798
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus, Short stature OMIM:227646
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature OMIM:308300
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Fontaine Progeroid Syndrome
Short stature, Hydrocephalus, Umbilical hernia, Microphthalmia, Intrauterine growth retardation, ... OMIM:612289
Myhre Syndrome
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra... OMIM:139210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:608670
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Yunis-Varon Syndrome
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... ORPHA:3472
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Mend Syndrome
Microphthalmia, Hydrocephalus, Short stature ORPHA:401973
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Microphthalmia With Limb Anomalies
Microphthalmia, Hydrocephalus, Short stature, True anophthalmia ORPHA:1106
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616975
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, ... ORPHA:468631
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Short stature, Alobar holoprosencephaly OMIM:236100
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Umbilical hernia, Aniridia, Microph... OMIM:305600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Atelis Syndrome 2
Microphthalmia OMIM:620185
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Severe short stature, Hydrocephalus, Growth delay, Microphthalmia ORPHA:2556
Microphthalmia, Syndromic 2
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia OMIM:300166
Fryns Syndrome
Microphthalmia, Chylothorax, Polyhydramnios OMIM:229850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Holoprosencephaly ORPHA:3186
Aicardi Syndrome
Microphthalmia, Delayed puberty ORPHA:50
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Cockayne Syndrome Type 3
Microphthalmia, Mild postnatal growth retardation ORPHA:90324
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia ORPHA:191
Charge Syndrome
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... OMIM:214800
Degcags Syndrome
Microphthalmia, Polyhydramnios, Intrauterine growth retardation OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus OMIM:253280
Proboscis Lateralis
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia OMIM:619539
Pallister-Hall Syndrome
Short stature, Umbilical hernia, Holoprosencephaly, Microphthalmia, Intrauterine growth retardati... ORPHA:672
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos OMIM:219000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus OMIM:273395
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Monosomy 9P
Microphthalmia ORPHA:261112
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrau... OMIM:268300
Holoprosencephaly 2
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Renpenning Syndrome 1
Microphthalmia, Short stature OMIM:309500
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Microphthalmia, Short stature OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Mowat-Wilson Syndrome
Microphthalmia, Short stature OMIM:235730
Townes-Brocks Syndrome
Microphthalmia, Short stature, Delayed puberty ORPHA:857
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Growth delay, Microphthalmia, Short stature ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Short stature ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Short stature 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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