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Gene: Med13l MGI:2670178

Gene Summary

Name:

mediator complex subunit 13-like

Synonyms:

2210413I17Rik, 9030618F05Rik, Trap240L, Thrap2, 6330591G05Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal craniofacial morphology	Med13l^em1(IMPC)Mbp	HOM	E15.5
abnormal facial morphology	Med13l^em1(IMPC)Mbp	HOM	E15.5
edema	Med13l^em1(IMPC)Mbp	HOM	E15.5
embryonic growth retardation	Med13l^em1(IMPC)Mbp	HOM	E15.5
abnormal blood vessel morphology	Med13l^em1(IMPC)Mbp	HOM	E15.5
microphthalmia	Med13l^em1(IMPC)Mbp	HOM	E15.5

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

18 Images

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Gross Morphology Embryo E9.5

Images

3 Images

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Human diseases caused by Med13l 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 Med13l (2 diseases)
Human diseases predicted to be associated with Med13l (394 diseases)

The table below shows human diseases associated to Med13l by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency		Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects			OMIM:616789

The table below shows human diseases predicted to be associated to Med13l by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Edema, Microphthalmia	OMIM:616570
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:609054
Nanophthalmos	Microphthalmia	ORPHA:35612
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, Microphthalmia	ORPHA:2528
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616171
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Biemond Syndrome Type 2	Short stature, Delayed puberty, Microphthalmia	ORPHA:141333
Cofs Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Congenital Toxoplasmosis	Ascites, Intrauterine growth retardation, Microphthalmia	ORPHA:858
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
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Mmep Syndrome	Microphthalmia	ORPHA:3434
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
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
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Congenital Rubella Syndrome	Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Pierpont Syndrome	Microphthalmia	ORPHA:487825
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	OMIM:300863
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Growth delay, Microphthalmia	ORPHA:85284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Microphthalmia	ORPHA:93267
Trisomy 13	Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy...	ORPHA:3378
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Seckel Syndrome 2	Short stature, Growth delay, Microphthalmia	OMIM:606744
Monosomy 18P	Short stature, Microphthalmia, Lymphedema	ORPHA:1598
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, Mild short stature, Microphthalmia	OMIM:614833
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Spondylo-Ocular Syndrome	Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	ORPHA:163966
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Gracile Bone Dysplasia	Ascites, Aniridia, Short stature, Microphthalmia	OMIM:602361
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Microphthalmia	OMIM:214150
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Edema, Umbilical hernia	ORPHA:2505
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Adams-Oliver Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:614219
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
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
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	ORPHA:494344
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida occulta, Microphthalmia	OMIM:169550
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Joubert Syndrome 37	Short stature, Microphthalmia	OMIM:619185
Heart And Brain Malformation Syndrome	Polyhydramnios, Growth delay, Microphthalmia	OMIM:616920
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Oculopalatocerebral Syndrome	Short stature, Microphthalmia	OMIM:257910
Trichothiodystrophy 3, Photosensitive	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616395
Fetal Alcohol Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1915
Matthew-Wood Syndrome	Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:2470
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Baraitser-Winter Syndrome 1	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:243310
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Solitary Median Maxillary Central Incisor	Short stature, Anophthalmia, Microphthalmia	OMIM:147250
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:620601
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature, Edema	OMIM:617729
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	ORPHA:2728
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:77298
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postnatal growth retardation, Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Frontofacionasal Dysplasia	Short stature, Encephalocele, Microphthalmia	ORPHA:1791
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	OMIM:251230
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Warburg Micro Syndrome 4	Short stature, Severe postnatal growth retardation, Microphthalmia	OMIM:615663
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Microphthalmia With Limb Anomalies	Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia	OMIM:206920
Microphthalmia/Coloboma 12	Optic nerve aplasia, Growth delay, Microphthalmia	OMIM:120200
Marden-Walker Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:248700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation	OMIM:241410
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Micro Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia	ORPHA:2510
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Fanconi Anemia, Complementation Group F	Polyhydramnios, Intrauterine growth retardation, Short stature, Microphthalmia	OMIM:603467
Mosaic Trisomy 9	Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, H...	ORPHA:99776
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Frontonasal Dysplasia 2	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Temtamy Syndrome	Microphthalmia	OMIM:218340
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios	ORPHA:3412
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cerebrooculofacioskeletal Syndrome 4	Short stature, Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Moebius Syndrome	Microphthalmia	OMIM:157900
Joubert Syndrome 14	Meningocele, Growth delay, Encephalocele, Microphthalmia	OMIM:614424
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Adams-Oliver Syndrome	Ascites, Encephalocele, Microphthalmia	ORPHA:974
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Meckel Syndrome 14	Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia	OMIM:619879
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short s...	OMIM:251300
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Severe postnatal growth retardation, Microphthalmia	ORPHA:35173
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia	OMIM:612530
Papillorenal Syndrome	Short stature, Edema, Microphthalmia	OMIM:120330
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Trisomy 18	Growth delay, Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Sho...	ORPHA:3380
Pierson Syndrome	Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ...	OMIM:609049
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	ORPHA:364577
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Ascites, Intrauterine growth retardation, Increased nuchal translucency, Microphtha...	ORPHA:1052
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Oculo-Palato-Cerebral Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:2714
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cohen Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia	ORPHA:193
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Refsum Disease	Microphthalmia	ORPHA:773
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Martsolf Syndrome 1	Short stature, Microphthalmia	OMIM:212720
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Microphthalmia	ORPHA:1692
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Mesomelic/rhizomelic limb shortening, Neonatal short-t...	ORPHA:2839
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
1Q21.1 Microdeletion Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:250989
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O...	OMIM:206900
Microphthalmia, Lenz Type	Short stature, Microphthalmia	ORPHA:568
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, Microphthalmia	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Fryns Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2059
Dubowitz Syndrome	Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microphtha...	OMIM:223370
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:227645
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia	OMIM:608940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Microphthalmia	ORPHA:85167
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
Microphthalmia, Syndromic 9	Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh...	OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Cousin Syndrome	Hydranencephaly, Disproportionate short stature, Rhizomelia, Microphthalmia	OMIM:260660
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Pallister-Hall Syndrome	Short stature, Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:614083
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Jacobsen Syndrome	Macular hypoplasia, Intrauterine growth retardation, Microphthalmia	OMIM:147791
2Q31.1 Microdeletion Syndrome	Short stature, Microphthalmia	ORPHA:251014
Cat Eye Syndrome	Short stature, Microphthalmia, Umbilical hernia	OMIM:115470
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Incontinentia Pigmenti	Short stature, Spina bifida occulta, Microphthalmia, Umbilical hernia	ORPHA:464
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida, Proportionate short stature	OMIM:234100
Meckel Syndrome	Oligohydramnios, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Ane...	ORPHA:564
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Roberts Syndrome	Polyhydramnios, Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
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
Fanconi Anemia	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Aplasia/Hypoplasia of the iri...	ORPHA:84
Teebi-Shaltout Syndrome	Short stature, Microphthalmia	OMIM:272950
Myhre Syndrome	Intrauterine growth retardation, Birth length less than 3rd percentile, Microphthalmia, Pericardi...	OMIM:139210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Encephalocele, Microphthalmia	OMIM:616300
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2162
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Fraser Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:617666
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	OMIM:608670
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Incontinentia Pigmenti	Short stature, Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Cockayne Syndrome B	Severe short stature, Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth r...	OMIM:133540
Histiocytoid Cardiomyopathy	Pulmonary edema, Congenital aphakia, Microphthalmia	ORPHA:137675
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili...	OMIM:256520
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st...	ORPHA:93325
Monosomy 13Q14	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1587
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:620186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:620005
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe	Umbilical hernia, Joint swelling, Delayed puberty, Microphthalmia, Short stature, Buphthalmos, De...	ORPHA:534
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia	ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616975
Kenny-Caffey Syndrome, Type 2	Severe short stature, Microphthalmia	OMIM:127000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligohydramnios, Microp...	OMIM:249000
Charge Syndrome	Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Anophthalmia, De...	ORPHA:138
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:2538
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Polyhydramnios, ...	ORPHA:567
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Yunis-Varon Syndrome	Bilateral microphthalmos, Postnatal growth retardation, Increased nuchal translucency, Microphtha...	ORPHA:3472
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Short stature, Microphthalmia	OMIM:227646
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Fryns Syndrome	Polyhydramnios, Chylothorax, Microphthalmia	OMIM:229850
Aicardi Syndrome	Postnatal growth retardation, Spina bifida, Microphthalmia	OMIM:304050
Fontaine Progeroid Syndrome	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature	OMIM:612289
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Microphthalmia	OMIM:309801
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Short stature, True anophthalmia, Microphthalmia	ORPHA:1106
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Microphthalmia	ORPHA:90324
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay	ORPHA:191
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Mend Syndrome	Short stature, Microphthalmia	ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Growth delay, Anophthalmia, Microphthalmia	ORPHA:2556
Degcags Syndrome	Polyhydramnios, Intrauterine growth retardation, Microphthalmia	OMIM:619488
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Hydrolethalus Syndrome 1	Polyhydramnios, Intrauterine growth retardation, Anencephaly, Microphthalmia	OMIM:236680
Microphthalmia, Syndromic 2	Umbilical hernia, Anophthalmia, Phthisis bulbi, Microphthalmia, Short stature	OMIM:300166
Holoprosencephaly 9	Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia	OMIM:610829
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Growth delay, Umbilical hernia	OMIM:613884
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Witteveen-Kolk Syndrome	Branchial fistula, Growth delay, Intrauterine growth retardation, Microphthalmia, Polyhydramnios,...	OMIM:613406
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Monosomy 9P	Microphthalmia	ORPHA:261112
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Short stature, Spina ...	OMIM:305600
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g...	ORPHA:508488
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Charge Syndrome	Umbilical hernia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Delayed ...	OMIM:214800
Neuroocular Syndrome 1	Umbilical hernia, Hypoplasia of the fovea, Microphthalmia, Short stature, Lens coloboma	OMIM:619539
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Pallister-Hall Syndrome	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature	ORPHA:672
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Lowe Oculocerebrorenal Syndrome	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Branchiooculofacial Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M...	OMIM:113620
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Fraser Syndrome 1	Myelomeningocele, Bilateral microphthalmos, Encephalocele, Anophthalmia	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Frontal encephalocele, Microphthalmia, Polyhydramnios, Severe intra...	OMIM:268300
Norrie Disease	Hypoplasia of the iris, Delayed puberty, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Mowat-Wilson Syndrome	Short stature, Microphthalmia	OMIM:235730
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Townes-Brocks Syndrome	Short stature, Delayed puberty, Microphthalmia	ORPHA:857
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	Short stature, Growth delay, Microphthalmia	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
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Growth delay, Anophthalmia, Microphthalmia	OMIM:309800
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects		OMIM:616789

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 Med13l

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 Med13l.

No publications found that use IMPC mice or data for Med13l.

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MGI Allele	Allele Type	Produced
Med13l^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue
Med13l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Med13l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Med13l MGI:2670178

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

Human diseases caused by Med13l mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data