Gene Summary

DEAH-box helicase 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
abnormal vitreous body morphology Dhx8em1(IMPC)Mbp HET   Early adult 5.71×10-05
abnormal kidney morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
small kidney Dhx8em1(IMPC)Mbp HET Early adult 0.00
decreased prepulse inhibition Dhx8em1(IMPC)Mbp HET Early adult 2.60×10-06
preweaning lethality, complete penetrance Dhx8em1(IMPC)Mbp HOM   Early adult 0.00
microphthalmia Dhx8em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Dhx8em1(IMPC)Mbp HOM   E9.5 0.00
enlarged kidney Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Dhx8em1(IMPC)Mbp HET   Early adult 8.44×10-07
abnormal skin morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal thymus morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
enlarged thymus Dhx8em1(IMPC)Mbp HET Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

21 Images


XRay Images Whole Body Lateral Orientation

7 Images

Gross Morphology Embryo E9.5


1 Images

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
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Peripheral retinal av... ORPHA:891
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dys... OMIM:613730
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Gombo Syndrome
Microphthalmia OMIM:233270
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Anemia, Leukopenia, Nephrotic syndrome, F... OMIM:617303
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Microphthalmia... ORPHA:195
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Microphthalmia ORPHA:1473
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Renal hypoplasia OMIM:615665
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Optic atrophy OMIM:274270
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Chorioretinal coloboma OMIM:120433
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Lymphadenopathy, Anemia, Microph... ORPHA:858
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... ORPHA:251004
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Pancreatic cysts, Splenomegaly,... OMIM:208540
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cryptorchidism OMIM:601794
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Lipemia retinalis, Nephrolithiasis,... OMIM:232220
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cryptorchidism ORPHA:363741
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Renal hypopla... ORPHA:85284
Cofs Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma ORPHA:231736
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... ORPHA:505248
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, ... ORPHA:290
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... ORPHA:464329
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosclerosis... OMIM:232200
Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re... OMIM:193220
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchid... OMIM:610125
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... ORPHA:2547
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abnormal renal mor... OMIM:609053
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... OMIM:194080
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma OMIM:300915
H Syndrome
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, De... ORPHA:168569
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... ORPHA:2788
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Abnormal retinal vascular morphology, Cryptorc... ORPHA:3378
Warburg Micro Syndrome 1
Microphthalmia, Optic atrophy, Cryptorchidism OMIM:600118
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly ORPHA:79128
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... OMIM:609049
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly OMIM:619053
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... ORPHA:899
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Splenomegaly, Microphthalmia, Retinopathy ORPHA:773
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti... ORPHA:500095
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Optic atrophy, Abnormal... ORPHA:2510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Nephroblastoma OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Retinal detachment OMIM:613153
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... OMIM:614105
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, H... ORPHA:731
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia OMIM:617244
Lissencephaly 8
Microphthalmia, Optic atrophy OMIM:617255
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Nephrolithiasis, ... ORPHA:79259
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy OMIM:613155
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Choroideremia, Ab... ORPHA:116
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Vesicoureteral reflux, Microp... ORPHA:494344
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Renal hy... OMIM:603467
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:618494
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Hypoplasia of the ovary, Hypoplasti... ORPHA:79328
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma ORPHA:1777
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus, Oligosacchariduria ORPHA:163649
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... OMIM:227650
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia, Microcytic anemia OMIM:618805
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... OMIM:600901
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Spondylo-Ocular Syndrome
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... ORPHA:2969
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc coloboma, Choriore... ORPHA:568
Warburg Micro Syndrome 4
Cryptorchidism, Optic atrophy, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen OMIM:602361
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Optic atrophy, Microcytic anemia OMIM:612379
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Retinal vascular tortuosity... OMIM:243605
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia ORPHA:139471
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Retinal coloboma ORPHA:2328
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Chorioretinal coloboma, Cryptorchidism OMIM:243310
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... OMIM:227645
Duane-Radial Ray Syndrome
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ret... OMIM:607323
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Microphthalmia, Macular coloboma OMIM:615145
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microphthalmia ORPHA:3301
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney OMIM:306955
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Retinal degeneration, Abnormally large globe OMIM:615249
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Joubert Syndrome 14
Microphthalmia, Morning glory anomaly, Optic atrophy, Renal cyst OMIM:614424
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Hydrocele testis, Iron deficiency anemia... OMIM:300855
Kapur-Toriello Syndrome
Cryptorchidism, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis OMIM:244300
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Cardiomegaly OMIM:618652
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia ORPHA:370959
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... OMIM:227646
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Nephronophthisis, Chorio... OMIM:608091
Warburg Micro Syndrome 3
Microphthalmia, Micropenis, Optic atrophy, Decreased testicular size OMIM:614222
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... OMIM:221900
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:2505
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Retinal atrophy, Unilateral r... ORPHA:90324
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy OMIM:614219
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio... OMIM:146510
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Warburg Micro Syndrome 2
Microphthalmia, Micropenis, Optic atrophy, Cryptorchidism OMIM:614225
Moebius Syndrome
Microphthalmia, Micropenis, Decreased testicular size OMIM:157900
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis OMIM:613001
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen,... OMIM:601186
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular... OMIM:308300
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma, Horsesho... ORPHA:959
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Renal dysplasia OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Bupht... OMIM:236670
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Proteinuria, Multiple bladder diverticula, Cryptorchidism ORPHA:2728
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma OMIM:218340
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Patent urachus, Mic... OMIM:618280
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal c... ORPHA:99776
Phace Association
Optic nerve hypoplasia, Optic atrophy, Increased retinal vascularity, Microphthalmia, Lingual thy... OMIM:606519
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Pigmentary retinopathy, Cryptorchidism OMIM:614230
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... ORPHA:2538
Pseudotrisomy 13 Syndrome
Renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:264480
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retina... ORPHA:191
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Lymphopenia, Neutropenia OMIM:616395
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system ORPHA:2714
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia, Retinal coloboma, Absent gallbladder OMIM:184705
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i... OMIM:251300
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Retinal calcification, Microphthalmia, Anemia OMIM:127000
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Microphthalmia, ... OMIM:115470
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Microphthalmia, Micrope... OMIM:614083
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl... OMIM:206900
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2189
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Anemia, Vitreous hemorrhage, Microphthalmia, Thrombocyto... OMIM:620185
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis OMIM:616449
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma, Cryptorchidism OMIM:619135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia OMIM:253800
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism ORPHA:228390
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Microphth... OMIM:147791
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Neut... ORPHA:193
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Microphthalmia,... ORPHA:2059
Monosomy 18P
Microphthalmia ORPHA:1598
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Retinal coloboma, Hydronephrosis ORPHA:2839
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal optic nerve morp... ORPHA:3412
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Abnormal... ORPHA:508498
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Optic atrophy OMIM:234050
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Optic atrophy, Pigmentary retinopathy OMIM:610651
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Microphthalmia, Congen... ORPHA:137675
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hypoplasia of the iris,... ORPHA:2092
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Cryptorchidism, Optic ... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy OMIM:616538
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrophy, Microphthalmia OMIM:619148
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal localization... ORPHA:2166
Trisomy 18
Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cryptorchidism, Micr... ORPHA:3380
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipple, Retina... ORPHA:464
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Martsolf Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:212720
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis ORPHA:464738
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Chorio... ORPHA:2556
Mycophenolate Mofetil Embryopathy
Microphthalmia, Chorioretinal coloboma, Ectopic kidney ORPHA:268249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal hypoplasia, Renal cyst, Cryptorchidism OMIM:616300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Cryptorchidism ORPHA:250989
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Chorioretinal dysplasia, C... ORPHA:534
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Renal hypoplasia, M... OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Vesicoureteral reflux, Microphthalmia, An... OMIM:616975
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Optic atrophy, Hypo... OMIM:133540
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... OMIM:223370
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Adams-Oliver Syndrome
Microphthalmia, Thrombocytopenia, Leukopenia ORPHA:974
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Retinal arteriolar tortuosity, Splenomegaly, Cryptorchidism, Opt... ORPHA:567
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Rodrigues Blindness
Microphthalmia OMIM:268320
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Pigmentary retinopathy, Chordee, Microphthalmia, Micropenis OMIM:309801
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia OMIM:619879
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... OMIM:229850
Degcags Syndrome
Hepatomegaly, Pancytopenia, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysp... OMIM:619488
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:2250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... ORPHA:744
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Tetraamelia Syndrome 1
Renal agenesis, Asplenia, Urethral atresia, Adrenal gland agenesis, Microphthalmia OMIM:273395
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis, Cryptorchidism OMIM:300895
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral ag... ORPHA:141099
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Microphthalmia With Limb Anomalies
Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia ORPHA:1106
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma, Ovarian fibroma, Retinopathy ORPHA:77301
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Asplenia, Cryptorchidism, Splenomega... OMIM:249000
Microphthalmia, Hypopituitarism ORPHA:391474
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Microph... OMIM:253280
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Micropenis, Retinob... OMIM:613884
Treacher-Collins Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Thyroid hypoplasia ORPHA:861
Hallermann-Streiff Syndrome
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Cryptorchidism OMIM:234100
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma, Cryptorchidism ORPHA:251014
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Retinal calcification, Congenital hypoparathyroidism, Decr... ORPHA:93325
Charge Syndrome
Anophthalmia, Cryptorchidism, Optic atrophy, Horseshoe kidney, Micropenis, Chorioretinal coloboma... ORPHA:138
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Retinal vascular malformation, Ectopic thyroid, Microphtha... ORPHA:42775
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Cryptorch... OMIM:300166
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abno... ORPHA:649
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, Hypoplastic nipples,... OMIM:620186
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Renal agenesis, Decreased response to growth hormone stimulatio... OMIM:214800
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Ma... ORPHA:33364
Aicardi Syndrome
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia OMIM:304050
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia OMIM:259770
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Optic atrophy, Horsesho... OMIM:305600
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Hypermyelinated retinal nerve fibers OMIM:601812
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Thrombocytopenia ORPHA:3103
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy OMIM:201180
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Cryptorchidism, Horseshoe kidney, Microphthalmia, Micropenis OMIM:609945
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Absent gallbladder ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:603457
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis, Absent gallbladder OMIM:617925
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias, Cryptorchidism ORPHA:261112
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Ren... ORPHA:2052
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Renpenning Syndrome 1
Hypospadias, Phimosis, Renal hypoplasia, Microphthalmia, Decreased testicular size OMIM:309500
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir... ORPHA:637
Pallister-Hall Syndrome
Renal dysplasia, Thyroid hypoplasia, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryp... ORPHA:672
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Ureterocele, Cryptorchidism OMIM:616734
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of th... ORPHA:508488
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Cryptorchidism, Renal hypoplasia, Microphthalmia, Anterior hypop... OMIM:607932
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Cryptorchidism OMIM:268400
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Adrenal gland dysgenesis, Microphthalmia, Hydronephrosis OMIM:236680
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Anterior pituitary agenesis, Chorioretin... OMIM:157170
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Reti... OMIM:113620
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Renovascular hypertension, R... ORPHA:3472
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Retinal arteriolar tortuosity, Retinal hemorrhage, Hypoplasia of the iris, Peri... OMIM:175780
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism ORPHA:2108
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re... OMIM:219000
Fontaine Progeroid Syndrome
Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hypertrophy, Microphthalmia,... OMIM:612289
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc colo... OMIM:309800
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system OMIM:619539
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Cryptorc... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... ORPHA:2152
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Cryptorc... ORPHA:261552
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Cryptorchidism, Chorioretinal colob... OMIM:235730
Monosomy 13Q14
Microphthalmia, Retinoblastoma ORPHA:1587
Isolated Arrhinia
Microphthalmia ORPHA:1134
Witteveen-Kolk Syndrome
Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Hypospadias, Ph... OMIM:613406
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Cryptorchidism, Long penis, Horseshoe kidney, Polycystic kidney dy... OMIM:268300
Neu-Laxova Syndrome 1
Microphthalmia, Renal agenesis, Cryptorchidism OMIM:256520
Adams-Oliver Syndrome 1
Microphthalmia, Supernumerary nipple OMIM:100300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... OMIM:164210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500


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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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