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Gene: Fgd1 MGI:104566

Gene Summary

Name:

FYVE, RhoGEF and PH domain containing 1

Synonyms:

ZFYVE3, faciogenital dysplasia

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal embryo size	Fgd1^em1(IMPC)Tcp	HEM	E15.5
abnormal craniofacial morphology	Fgd1^em1(IMPC)Tcp	HET	E15.5
abnormal craniofacial morphology	Fgd1^em1(IMPC)Tcp	HEM	E15.5
enlarged thymus	Fgd1^em1(IMPC)Tcp	HET	Early adult
microphthalmia	Fgd1^em1(IMPC)Tcp	HEM	E15.5
edema	Fgd1^em1(IMPC)Tcp	HEM	E15.5
embryonic growth retardation	Fgd1^em1(IMPC)Tcp	HEM	E15.5

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.

Eye Morphology

Images Ophthalmoscopy

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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X-ray

XRay Images Skull Lateral Orientation

5 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

16 Images

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Gross Morphology Embryo E14.5-E15.5

Images

35 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Fgd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Fgd1 (2 diseases)
Human diseases predicted to be associated with Fgd1 (397 diseases)

The table below shows human diseases associated to Fgd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Aarskog-Scott Syndrome		Umbilical hernia, Short stature	ORPHA:915
Aarskog-Scott Syndrome		Mild short stature, Short stature, Delayed puberty	OMIM:305400

The table below shows human diseases predicted to be associated to Fgd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema, Intrauterine growth retardation	OMIM:616570
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Congenital Toxoplasmosis	Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mmep Syndrome	Microphthalmia	ORPHA:3434
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia	OMIM:613885
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:228390
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Trisomy 13	Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt...	ORPHA:3378
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios	ORPHA:2189
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Monosomy 18P	Microphthalmia, Short stature, Lymphedema	ORPHA:1598
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ascites, Short stature	OMIM:602361
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature, Edema	ORPHA:2505
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Increased nuchal translucency, Oligohydramnios	OMIM:618494
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610125
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Galloway-Mowat Syndrome 3	Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation	OMIM:617729
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:251230
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Growth delay	OMIM:120200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Micro Syndrome	Microphthalmia, Short stature, Delayed puberty, Intrauterine growth retardation	ORPHA:2510
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation	OMIM:603467
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
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
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Mosaic Trisomy 9	Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O...	ORPHA:99776
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:613451
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Moebius Syndrome	Microphthalmia	OMIM:157900
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Ascites	ORPHA:974
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Meckel Syndrome 14	Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios	OMIM:619879
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Polyhydramnios	ORPHA:3301
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Galloway-Mowat Syndrome 1	Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar...	OMIM:251300
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:364577
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Trisomy 18	Short stature, Spina bifida, Anencephaly, Oligohydramnios, Growth delay, Microphthalmia, Intraute...	ORPHA:3380
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Mosaic Variegated Aneuploidy Syndrome	Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit...	ORPHA:1052
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Papillorenal Syndrome	Microphthalmia, Short stature, Edema	OMIM:120330
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Cohen Syndrome	Microphthalmia, Short stature, Delayed puberty, Intrauterine growth retardation	ORPHA:193
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Refsum Disease	Microphthalmia	ORPHA:773
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Mosaic Trisomy 1	Microphthalmia, Increased nuchal translucency, Polyhydramnios	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios	ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Microphthalmia, Syndromic 9	Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ...	OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Pallister-Hall Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:146510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios	ORPHA:3103
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy...	ORPHA:564
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature	ORPHA:464
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia, Rhizomelia	OMIM:616300
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:608670
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Fanconi Anemia	Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr...	ORPHA:84
Neu-Laxova Syndrome 1	Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm...	OMIM:256520
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Myhre Syndrome	Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra...	OMIM:139210
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra...	OMIM:133540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Pulmonary edema	ORPHA:137675
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Oculocerebrorenal Syndrome Of Lowe	Short stature, Dehydration, Buphthalmos, Joint swelling, Umbilical hernia, Delayed puberty, Micro...	ORPHA:534
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Polyhydramnios, Meningocele, Occipital myelomeningocele, Umbilical h...	ORPHA:567
Charge Syndrome	Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Delayed puberty, Micro...	ORPHA:138
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Yunis-Varon Syndrome	Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat...	ORPHA:3472
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:2538
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature	OMIM:227646
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Fontaine Progeroid Syndrome	Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	OMIM:612289
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation	OMIM:236680
Fryns Syndrome	Microphthalmia, Chylothorax, Polyhydramnios	OMIM:229850
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Degcags Syndrome	Microphthalmia, Polyhydramnios, Intrauterine growth retardation	OMIM:619488
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
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
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2556
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Microphthalmia, Syndromic 2	Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia	OMIM:300166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ...	OMIM:305600
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow...	OMIM:613406
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Monosomy 9P	Microphthalmia	ORPHA:261112
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B...	ORPHA:508488
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Ovarian neopl...	ORPHA:744
Charge Syndrome	Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ...	OMIM:214800
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Neuroocular Syndrome	Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Pallister-Hall Syndrome	Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	ORPHA:672
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Branchiooculofacial Syndrome	Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt...	OMIM:113620
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty	ORPHA:649
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
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Growth delay, Microphthalmia, Short stature	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Short stature	ORPHA:261537
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Short stature	ORPHA:261552
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800
Aarskog-Scott Syndrome	Umbilical hernia, Short stature	ORPHA:915
Aarskog-Scott Syndrome	Mild short stature, Short stature, Delayed puberty	OMIM:305400

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 Fgd1

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 Fgd1.

No publications found that use IMPC mice or data for Fgd1.

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MGI Allele	Allele Type	Produced
Fgd1^em1(IMPC)Tcp	Exon Deletion	Mice
Fgd1^{tm47889(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fgd1 MGI:104566

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Fgd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data