Gene Summary

DEAH (Asp-Glu-Ala-His) box polypeptide 8
Ddx8,  RNA helicase,  mDEAH6

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
microphthalmia Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Dhx8em1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Dhx8em1(IMPC)Mbp HET Early adult 0.00
decreased prepulse inhibition Dhx8em1(IMPC)Mbp HET Early adult 3.15×10-06
abnormal thymus morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
enlarged thymus Dhx8em1(IMPC)Mbp HET Early adult 0.00
small kidney Dhx8em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Dhx8em1(IMPC)Mbp HOM   E9.5 0.00
abnormal kidney morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dhx8 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 Dhx8 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic... OMIM:263200
Nanophthalmos 4
Microphthalmia OMIM:615972
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, He... ORPHA:730
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Asplenia, Polysplenia, Bile duct proliferation, Renal dysplasia, ... OMIM:208540
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Microphthalmia ORPHA:195
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Annular pancreas, Anophthalmia, Aplasia/Hypop... ORPHA:2470
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Faciothoracogenital Syndrome
Microphthalmia, Glandular hypospadias OMIM:227320
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Fanconi Anemia, Complementation Group G
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia ORPHA:35612
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Bresek Syndrome
Renal hypoplasia, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia, Hypoplasia of the blad... ORPHA:85284
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Warburg Micro Syndrome 4
Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism OMIM:615663
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple ... ORPHA:464329
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnorma... ORPHA:2547
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:615524
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Decreased glomerular filtration ra... OMIM:232220
Hypospadias, Micropenis, Hyperechogenic kidneys, Cryptorchidism, Microphallus, Enlarged kidney OMIM:612651
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Enlarged kidney OMIM:200995
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... ORPHA:449395
H Syndrome
Lymphadenopathy, Micropenis, Hepatosplenomegaly, Microcytic anemia, Decreased testicular size, Ab... ORPHA:168569
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Renal malrotation, Renal cyst, Nephrolithiasi... OMIM:120330
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, Anemia, Hepatospl... ORPHA:505248
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Neutropenia, Optic nerve hypoplasia, Bone mar... OMIM:609053
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unilateral microph... ORPHA:137902
Meckel Syndrome, Type 8
Anophthalmia, Hyperechogenic kidneys, Microphthalmia OMIM:613885
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Pierpont Syndrome
Micropenis, Microphthalmia, Cryptorchidism OMIM:602342
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria OMIM:619053
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Nephroblastoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Warburg Micro Syndrome 3
Micropenis, Decreased testicular size, Microphthalmia OMIM:614222
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia ORPHA:290
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Microphthalmia, Micropenis, Cryptorchidism, Decreased testicular size OMIM:619185
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Microphthalmia OMIM:602501
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Stage 5 chronic kidney disease, Splenomegaly, Biliary hyperplasia, Recurrent ur... ORPHA:731
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Microphthalmia, Anemia, Bone marrow hypocellularity, Micropenis OMIM:614083
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia, Renal cyst OMIM:603194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:164180
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of th... ORPHA:3378
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Microphthalmia, Neutropenia, Thrombocytopenia, Leukemia, Anemia... OMIM:600901
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Cryptorchidism, Microphthalmia OMIM:616734
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphthalmia, Leukopenia, Pelvic kidney, Decreased response to growth hormone... OMIM:603467
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Nephrocalcinosis, Abnormal myeloid leukocyte morphology, Tubul... ORPHA:79259
Cofs Syndrome
Microphthalmia ORPHA:1466
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia OMIM:600118
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Microphthalmia, Neutropenia, Thrombocytopenia, Leukemia, Anemia... OMIM:227650
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Microphthalmia, Right ventricular hypertrophy, Left ve... ORPHA:335
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Cryptorchidism, Ectopic posteri... OMIM:610125
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hypoplasia o... ORPHA:79328
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Microphthalmia OMIM:618805
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Polycythemia, Congenital megaureter, Cardiomegaly, Nephrolith... ORPHA:116
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Gracile Bone Dysplasia
Microphthalmia, Asplenia, Aniridia, Micropenis, Hypoplastic spleen OMIM:602361
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Renal agenesis, Microphthalmia, Neutropenia, Thrombocytopenia, Leukemia, Bone m... OMIM:227645
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia, Renal cyst OMIM:611134
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Enlarged kidney OMIM:608978
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia OMIM:601794
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Anophthalmia, Cryptorchidism, Hypoplasia of penis ORPHA:77298
Meckel Syndrome, Type 5
Abnormality of the urinary system, Bile duct proliferation, Microphthalmia OMIM:611561
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia ORPHA:363741
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia OMIM:618914
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Renal agenesis, Microphthalmia, Neutropenia, Thrombocytopenia, Annular pancreas... OMIM:227646
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Microphthalmia, Micropenis, Cryptorchidism OMIM:248700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Bilateral cryptorchidism, Microphthalmia OMIM:618652
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Renal malrotation, Anophthalmia, Pelvic kidne... OMIM:601186
Refsum Disease
Renal insufficiency, Microphthalmia, Splenomegaly ORPHA:773
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Microphthalmia, Hypoplasia of the iris, Pelvic kidney, Cryptorchidism OMIM:613001
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Microphthalmia ORPHA:1438
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hypercalciuria, Enlarged kidney ORPHA:508
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Cryptorchidism, Proteinuria, Microphthalmia ORPHA:2728
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Baraitser-Winter Syndrome 1
Micropenis, Microphthalmia, Cryptorchidism OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Microphthalmia, Vesicoureteral reflux ORPHA:494344
Microphthalmia, Syndromic 3
Hypospadias, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Anterior pituitary... OMIM:206900
Temtamy Syndrome
Microphthalmia ORPHA:1777
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Microphthalmia, Thyroid dysgenesis, Renal dysplasia, Decreased ... OMIM:146510
Moebius Syndrome
Micropenis, Decreased testicular size, Microphthalmia OMIM:157900
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Micro Syndrome
Hydronephrosis, Microphthalmia, Abnormal localization of kidney, Cryptorchidism, Hypoplasia of penis ORPHA:2510
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Microphthalmia OMIM:617883
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Microphthalmia, Optic nerve hypoplasia, Accessory spleen OMIM:243605
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hyp... OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Microphthalmia, Renal hypoplasia/aplasia, Cryptorchidism, Hydroureter ORPHA:568
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia, Hypospadias OMIM:615877
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Duane-Radial Ray Syndrome
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Microphthalmia, Renal agenesis, Renal malrota... OMIM:607323
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Microphthalmia, Asplenia, Renal dysplasia, Multiple renal cysts... ORPHA:99776
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Microphthalmia, Micropenis, Cryptorchidism OMIM:264480
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Warburg Micro Syndrome 2
Micropenis, Microphthalmia, Cryptorchidism OMIM:614225
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:2505
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux OMIM:120200
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Splenomegal... OMIM:312870
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Spondyloepiphyseal Dysplasia, Nishimura Type
Oligosacchariduria, Microphthalmia ORPHA:163649
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Abnormality of the spleen, Renal agenesis, Microphthalmia, Hepatomegaly, Anopht... ORPHA:2538
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:2189
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hypoplasia of penis, Microphthalmia ORPHA:899
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:139471
Kapur-Toriello Syndrome
Abnormality of the urinary system, Micropenis, Microphthalmia, Cryptorchidism OMIM:244300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Martsolf Syndrome 1
Micropenis, Microphthalmia, Cryptorchidism OMIM:212720
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia, Vesicoureteral reflux OMIM:600123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Cryptorchidism, Microphthalmia, Renal cyst OMIM:616300
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Microphthalmia OMIM:611961
Galloway-Mowat Syndrome 3
Microphthalmia, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse... OMIM:617729
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Fryns Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Multicystic kidney dysplasia, Vesicoureteral reflux,... ORPHA:2059
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Meckel Syndrome
Ureteral duplication, Microphthalmia, Pancreatic cysts, Asplenia, Anophthalmia, Urethral atresia,... ORPHA:564
Kapur-Toriello Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2328
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Microphthalmia, Left ventricular hypertrophy, Penoscrotal transposition, Cryptorchidism OMIM:619148
Acro-Renal-Ocular Syndrome
Horseshoe kidney, Microphthalmia, Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/apla... ORPHA:959
Joubert Syndrome 2
Abnormal renal physiology, Microphthalmia, Nephronophthisis, Renal cyst OMIM:608091
Mosaic Trisomy 1
Renal cortical cysts, Microphthalmia, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia ORPHA:65286
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Craniofacial Microsomia
Renal agenesis, Microphthalmia, Anophthalmia, Multicystic kidney dysplasia, Ureteropelvic junctio... OMIM:164210
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Microphthalmia, Thyroid hypoplasia, Abnormal localization of kidney, Renal hypoplasi... ORPHA:2166
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Microphthalmia ORPHA:284160
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Hepatomegaly, Microphthalmia, Urinary retention, Splenomegaly, ... ORPHA:90324
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Male urethral meatus stenosis, Cholelithiasis ORPHA:464738
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Microphthalmia, Nephrotic syndrome, Hypoplasia of the iris, D... OMIM:251300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Microphthalmia ORPHA:228390
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Hypoplasia of penis, Microphthalmia ORPHA:2250
Adams-Oliver Syndrome
Thrombocytopenia, Microphthalmia, Leukopenia ORPHA:974
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Microphthalmia, Hypoplasia of the iris, Multicystic kidney dysp... ORPHA:2092
Meckel Syndrome, Type 1
Abnormality of the ureter, Microphthalmia, Renal agenesis, Asplenia, Bile duct proliferation, Spl... OMIM:249000
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Fanconi Anemia
Hypospadias, Microphthalmia, Leukopenia, Abnormality of the urinary system, Abnormal localization... ORPHA:84
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Cryptorchidism ORPHA:369891
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Microphthalmia, Cryptorchidism, Vesicoureteral reflux ORPHA:250989
Vacterl With Hydrocephalus
Renal agenesis, Microphthalmia, Anophthalmia, Renal hypoplasia/aplasia, Cryptorchidism ORPHA:3412
Tetraamelia Syndrome 1
Renal agenesis, Microphthalmia, Asplenia, Urethral atresia, Adrenal gland agenesis OMIM:273395
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimul... OMIM:610829
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Cat Eye Syndrome
Renal agenesis, Microphthalmia OMIM:115470
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Rodrigues Blindness
Microphthalmia OMIM:268320
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Microphthalmia OMIM:193220
Dubowitz Syndrome
Hypospadias, Acute lymphoblastic leukemia, Microphthalmia, Hypoplasia of the iris, Cryptorchidism... OMIM:223370
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Jacobsen Syndrome
Hypospadias, Microphthalmia, Annular pancreas, Macular hypoplasia, Thrombocytopenia, Cryptorchidism OMIM:147791
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Unilateral microphthalmos OMIM:618874
Degcags Syndrome
Hypospadias, Bilateral renal hypoplasia, Renal hypoplasia, Hepatomegaly, Microphthalmia, Pancytop... OMIM:619488
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Nephrocalcinosis, Hematuria, Anemia, Nephrolithiasis, Proximal renal... ORPHA:534
Incontinentia Pigmenti
Leukocytosis, Hypoplastic nipples, Microphthalmia, Hypoplasia of the fovea, Breast aplasia, Eosin... OMIM:308300
Trisomy 18
Hydronephrosis, Microphthalmia, Abnormality of the upper urinary tract, Cryptorchidism ORPHA:3380
Abnormality of the spleen, Microphthalmia, Hypoplasia of penis, Anophthalmia, Abnormality of the ... ORPHA:2162
Histiocytoid Cardiomyopathy
Hepatomegaly, Microphthalmia, Congenital aphakia, Polycystic ovaries, Renal cyst, Cardiomegaly ORPHA:137675
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Horseshoe kidney, Renal hypoplasia, Renal agenesis, Microphthalmia, Pelvic kidney, O... ORPHA:508498
Phace Association
Lingual thyroid, Optic nerve hypoplasia, Microphthalmia OMIM:606519
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Microphthalmia, Hypopituitarism ORPHA:391474
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Microphthalmia, Annular pancreas, Renal cyst, Vesicoureteral reflux, Cryptorchidism OMIM:616975
Fryns Syndrome
Hypospadias, Ectopic pancreatic tissue, Ureteral duplication, Hydronephrosis, Microphthalmia, Ren... OMIM:229850
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Steinfeld Syndrome
Unilateral renal dysplasia, Microphthalmia, Absent gallbladder OMIM:184705
Treacher-Collins Syndrome
Microphthalmia, Thyroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Hypoplasia of penis ORPHA:861
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:110100
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia, Cryptorchidism OMIM:236670
Cockayne Syndrome B
Hepatomegaly, Microphthalmia, Hypoplasia of the iris, Splenomegaly, Micropenis, Cryptorchidism, P... OMIM:133540
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Microphthalmia, Hypoplasia of the thymus, Chol... ORPHA:567
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Cockayne Syndrome
Renal hypoplasia, Hepatomegaly, Microphthalmia, Nephrotic syndrome, Abnormal renal physiology, Sp... ORPHA:191
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Microphthalmia, Nephroblastoma ORPHA:1052
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Abnormal renal collecting system morphology, ... ORPHA:468631
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Micropenis, Microphthalmia, Cryptorchidism OMIM:603457
Cohen Syndrome
Cryptorchidism, Microphthalmia, Neutropenia ORPHA:193
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Roberts Syndrome
Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Cryptorchidism ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Absent gallbladder ORPHA:3186
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Micropenis, Microphthalmia, Chordee OMIM:309801
Townes-Brocks Syndrome
Hypospadias, Renal hypoplasia, Urethral valve, Microphthalmia, Multiple renal cysts, Vesicoureter... ORPHA:857
Kenny-Caffey Syndrome, Type 2
Anemia, Hypoparathyroidism, Microphthalmia OMIM:127000
Fraser Syndrome
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Urethral atresia, Multicystic kidney... ORPHA:2052
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Microphthalmia, Absent gallbladder OMIM:617925
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Proteus Syndrome
Ovarian neoplasm, Buphthalmos, Macroorchidism, Thymus hyperplasia, Long penis, Renal cyst, Spleno... ORPHA:744
Persistent Hyperplastic Primary Vitreous
Macular hypoplasia, Buphthalmos, Phthisis bulbi, Microphthalmia ORPHA:91495
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Renal Fanconi syndrome, Microphthalmia, Proximal renal tubular acidosis, Crypt... OMIM:309000
Monosomy 9Q22.3
Nephroblastoma, Microphthalmia, Ovarian fibroma ORPHA:77301
Monosomy 9P
Hypospadias, Ureteropelvic junction obstruction, Cryptorchidism, Microphthalmia ORPHA:261112
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:251014
Bartsocas-Papas Syndrome 1
Ectopic kidney, Micropenis, Microphthalmia, Bilateral cryptorchidism OMIM:263650
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Microphthalmia, Hypoparathyroidism, Renal age... OMIM:214800
Renpenning Syndrome 1
Hypospadias, Renal hypoplasia, Microphthalmia, Phimosis, Decreased testicular size OMIM:309500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Horseshoe kidney, Microphthalmia, Micropenis, Cryptorchidism OMIM:609945
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesis, Unilateral renal agenesi... ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Micrope... ORPHA:138
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Microphthalmia With Limb Anomalies
True anophthalmia, Horseshoe kidney, Cryptorchidism, Microphthalmia ORPHA:1106
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Microphthalmia, Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Focal Dermal Hypoplasia
Horseshoe kidney, Ureteral duplication, Hydronephrosis, Microphthalmia, Hypoplastic nipples, Anop... OMIM:305600
Incontinentia Pigmenti
Eosinophilia, Microphthalmia, Supernumerary nipple ORPHA:464
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Microphthalmia, Annular pancreas OMIM:268400
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Abnormal penis morphology, Microphthalmia, Anophthalmia, Abnormal testis morphology,... ORPHA:2556
Pallister-Hall Syndrome
Hypospadias, Abnormal prolactin level, Adrenocorticotropic hormone deficiency, Microphthalmia, Th... ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612
Phace Syndrome
Ectopic thyroid, Optic nerve hypoplasia, Lens coloboma, Microphthalmia ORPHA:42775
Basal Cell Nevus Syndrome
Ovarian carcinoma, Microphthalmia, Ovarian fibroma OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Phthisis bulbi, Microphthalmia OMIM:612109
Neutropenia, Anemia, Increased mean corpuscular hemoglobin concentration, Cryptorchidism, Bilater... ORPHA:33364
Witteveen-Kolk Syndrome
Hypospadias, Microphthalmia, Decreased response to growth hormone stimulation test, Micropenis, C... OMIM:613406
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia ORPHA:2108
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Yunis-Varon Syndrome
Hypospadias, Microphthalmia, Renovascular hypertension, Cardiomegaly, Micropenis, Cryptorchidism,... ORPHA:3472
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis OMIM:157170
Fraser Syndrome 1
Hypospadias, Renal hypoplasia, Anophthalmia, Renal hypoplasia/aplasia, Micropenis, Cryptorchidism... OMIM:219000
Microphthalmia, Syndromic 6
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Micropenis, Cryptorchidism, Anterior... OMIM:607932
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Left ventricular hypertrophy, Micropenis, Absent nipple, Cry... OMIM:612289
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia, Leukemia ORPHA:2526
Microphthalmia, Syndromic 2
Hypospadias, Microphthalmia, Anophthalmia, Phthisis bulbi, Cryptorchidism OMIM:300166
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Isolated Arrhinia
Microphthalmia ORPHA:1134
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Bilateral microphthalmos, Congenital hypoparathyroidism, Decreased testicular size ORPHA:93325
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Roberts-Sc Phocomelia Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia, Long penis, Accessory spleen, Polycystic kidney dy... OMIM:268300
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Microphthalmia, Anophthalmia, Renal cyst, Cryptorchidism, Supernumer... OMIM:113620
Aicardi Syndrome
Microphthalmia ORPHA:50
Aicardi Syndrome
Microphthalmia OMIM:304050
Holoprosencephaly 7
Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Neu-Laxova Syndrome 1
Cryptorchidism, Renal agenesis, Microphthalmia OMIM:256520
Adams-Oliver Syndrome 1
Microphthalmia, Supernumerary nipple OMIM:100300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Hydronephrosis, Microphthalmia, Asplenia, Chordee, Pelvic kidney, Renal duplication,... ORPHA:261537
Mowat-Wilson Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Asplenia, Chordee, Pelvic kidney, Renal duplication,... ORPHA:2152
Mowat-Wilson Syndrome
Hypospadias, Microphthalmia, Cryptorchidism, Abnormality of the kidney, Supernumerary nipple OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Hydronephrosis, Microphthalmia, Asplenia, Chordee, Pelvic kidney, Renal duplication,... ORPHA:261552
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Microphthalmia, Anophthalmia, Renal hypoplasia/aplasia, Cryptorchi... OMIM:309800
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Treacher Collins Syndrome 1
Abnormal parotid gland morphology, Bilateral microphthalmos, Cryptorchidism OMIM:154500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Microphthalmia, Hypoplasia of the iris OMIM:175780
Norrie Disease
Cryptorchidism, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris ORPHA:649
Neuroocular Syndrome
Lens coloboma, Microphthalmia, Hypoplasia of the fovea OMIM:619539
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Pelvic kidney, Optic nerve hypoplasia, Ectopic posterior pituitary, U... ORPHA:508488


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 Dhx8

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 Dhx8.

No publications found that use IMPC mice or data for Dhx8.

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MGI Allele Allele Type Produced
Dhx8tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dhx8em1(IMPC)Mbp Exon Deletion Mice
Dhx8tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dhx8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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