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Gene: Dhx8 MGI:1306823

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Gene Summary

Name:
DEAH-box helicase 8
Synonyms:
Ddx8,  RNA helicase,  mDEAH6

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thymus 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
abnormal vitreous body morphology Dhx8em1(IMPC)Mbp HET   Early adult 8.31×10-06
enlarged kidney Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
enlarged thymus 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 skin morphology Dhx8em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Dhx8em1(IMPC)Mbp HET   Early adult 7.98×10-08
microphthalmia 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.

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Gross Morphology Embryo E9.5

Images

1 Images

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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
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, M... OMIM:251270
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epiretinal mem... ORPHA:891
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dys... OMIM:613730
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment, Microphthalmia ORPHA:209956
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia OMIM:267760
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Microphthalmia/Coloboma 10
Optic pit, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos 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
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Hematuria, Retinal detachment, Microphthalmia ORPHA:1473
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Cat-Eye Syndrome
Chorioretinal coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal locali... ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Joubert Syndrome 22
Renal hypoplasia, Retinal dysplasia, Microphthalmia OMIM:615665
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Optic atrophy, Chorio... OMIM:617303
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Chorioretinal coloboma, Microphthalmia OMIM:120433
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pallor OMIM:616171
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Microphthalm... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia OMIM:609218
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopeni... ORPHA:858
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Microphthalmia OMIM:614497
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Macular dystrophy, Membranoproliferative glomerulonephrit... ORPHA:251004
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia OMIM:601794
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants... OMIM:120200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:231736
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Anop... ORPHA:2470
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Microphthalmia ORPHA:324416
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegal... ORPHA:505248
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Hepatomegaly, ... ORPHA:290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... ORPHA:464329
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Retinal detachment, Macular atrophy, Microphthalmia, Buphthalmos, Retinal... OMIM:212550
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Retinal dy... OMIM:610125
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Decreased pineal volume, Microph... OMIM:301108
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Decreased response to growth hor... OMIM:609053
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Microphthalmia, Syndromic 13
Chorioretinal coloboma, Microphthalmia OMIM:300915
Acrocephalopolydactylous Dysplasia
Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... OMIM:194080
Warburg Micro Syndrome 1
Optic atrophy, Cryptorchidism, Microphthalmia OMIM:600118
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Abnormality of... ORPHA:168569
Trisomy 13
Optic atrophy, Abnormality of the ureter, Cryptorchidism, Anophthalmia, Displacement of the ureth... ORPHA:3378
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Abnormality of the anterior pituita... ORPHA:449395
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Congenital Primary Aphakia
Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Hepa... OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Microphthalmia OMIM:615181
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Abnormal optic nerve morphology, Cryptorchidism, Anophthalmia, ... ORPHA:899
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Hypoplasia o... OMIM:609049
Micro Syndrome
Optic atrophy, Retinal coloboma, Cryptorchidism, Abnormality of retinal pigmentation, Hydronephro... ORPHA:2510
Refsum Disease
Renal insufficiency, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Microphthalmia ORPHA:773
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia, Microphthalmia... OMIM:152950
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Hepatomegaly, Microphthalmia, Micropenis OMIM:619185
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Transient neutropenia, Nephroblasto... ORPHA:500095
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... OMIM:614105
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611561
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Microphthalmia OMIM:602501
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Cryptorchi... OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Retinal detachment, Microphthalmia OMIM:613153
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Cryptorchidism, Hypospadias, Enlarged kidney OMIM:612651
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Pelvic kidney, Microphthalmia OMIM:617244
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Microphthalmia OMIM:613155
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Phthi... ORPHA:91495
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... ORPHA:79259
Lissencephaly 8
Optic atrophy, Microphthalmia OMIM:617255
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Chorioretinal coloboma, Vesicoureteral reflux, Cryptorchidism, Microphthalmia, Hyp... ORPHA:494344
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Hydronephrosis, Microphthalmia OMIM:618494
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia OMIM:613091
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Vesicoureteral reflux, Cr... ORPHA:116
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to growth hormone... OMIM:603467
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma ORPHA:276280
Norrie Disease
Retinal fold, Optic atrophy, Hypoplasia of the iris, Retinal detachment, Microphthalmia, Buphthal... OMIM:310600
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Microphthalmia OMIM:300887
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia ORPHA:1777
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Hypopigmentation of the fundus, Retinal detachment, Oligosacchariduria, Microphthalmia ORPHA:163649
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hypoplastic nipples,... ORPHA:79328
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Microphthalmia, Cry... OMIM:227650
Nance-Horan Syndrome
Retinal detachment, Microphthalmia ORPHA:627
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatomegaly, Microphthalmia OMIM:618805
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Microphthalmia, Cry... OMIM:600901
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Microphthalmia, Lenz Type
Hydroureter, Optic disc coloboma, Chorioretinal coloboma, Cryptorchidism, Renal hypoplasia/aplasi... ORPHA:568
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Warburg Micro Syndrome 4
Optic atrophy, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... ORPHA:2969
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:603194
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Retinal dystrophy ORPHA:139471
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Nephroblastoma, Acute myeloid leuke... OMIM:610832
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Optic atrophy, Microphthalmia OMIM:612379
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism, Chorioretinal coloboma, Microphthalmia OMIM:243310
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Stromme Syndrome
Accessory spleen, Retinal vascular tortuosity, Bilateral renal hypoplasia, Hydronephrosis, Microp... OMIM:243605
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Kapur-Toriello Syndrome
Hypoplasia of penis, Retinal coloboma, Microphthalmia ORPHA:2328
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc... OMIM:227645
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia OMIM:618914
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia, Bilateral cryptorchidism OMIM:618652
Microphthalmia/Coloboma 9
Retinal detachment, Macular coloboma, Microphthalmia OMIM:615145
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney OMIM:306955
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Splenomegaly, Abno... ORPHA:744
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Optic disc hypoplasia, Retinal coloboma, Horseshoe kidney, Cros... OMIM:607323
Kapur-Toriello Syndrome
Abnormality of the urinary system, Retinal coloboma, Cryptorchidism, Microphthalmia, Micropenis OMIM:244300
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation, Microphthalmia OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Abnormally large globe, Microphthalmia OMIM:615249
Braddock-Carey Syndrome 2
Thrombocytopenia, Microphthalmia OMIM:619981
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Ogden Syndrome
Polycythemia, Decreased testicular size, Cryptorchidism, Cardiomegaly, Global glomerulosclerosis,... OMIM:300855
Oculoauricular Syndrome
Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular... OMIM:612109
Joubert Syndrome 14
Renal cyst, Optic atrophy, Morning glory anomaly, Microphthalmia OMIM:614424
Joubert Syndrome 2
Nephronophthisis, Optic disc coloboma, Chorioretinal coloboma, Renal insufficiency, Renal cyst, M... OMIM:608091
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Microphthalmia ORPHA:370959
Marden-Walker Syndrome
Renal hypoplasia, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias OMIM:248700
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:2505
Warburg Micro Syndrome 3
Micropenis, Decreased testicular size, Optic atrophy, Microphthalmia OMIM:614222
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen... OMIM:227646
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Retinal nonattachment, Phthisis bulbi, Remnants of the hyaloid vascular system, Mic... OMIM:221900
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Warburg Micro Syndrome 2
Micropenis, Optic atrophy, Cryptorchidism, Microphthalmia OMIM:614225
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia OMIM:614219
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Moebius Syndrome
Micropenis, Decreased testicular size, Microphthalmia OMIM:157900
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Microphthalmia OMIM:214150
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Hydronephrosis, Microphthalmia, Pelvic kidney OMIM:613001
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Leprechaunism
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney ORPHA:508
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Meckel Syndrome
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, ... ORPHA:564
Otodental Syndrome
Lens coloboma, Retinal coloboma, Microphthalmia ORPHA:2791
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Cryptorchidi... OMIM:601186
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cardiac-Urogenital Syndrome
Accessory spleen, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Unilateral cryptorchidism,... OMIM:618280
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula, Cryptorchidism, Microphthalmia ORPHA:2728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cryptorchidism, Retinal atrophy, Retinal detachment, Microphthalmia, Buphthalmos, ... OMIM:236670
Incontinentia Pigmenti
Optic atrophy, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia ... OMIM:308300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Renal dysplasia, Microphthalmia OMIM:618571
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulation test, Decreased t... OMIM:146510
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia OMIM:617883
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Horseshoe kidney, Crossed fus... ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O... OMIM:614643
Temtamy Syndrome
Chorioretinal coloboma, Microphthalmia OMIM:218340
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Mosaic Trisomy 9
Horseshoe kidney, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Microphthalmia, Asplenia,... ORPHA:99776
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia OMIM:169550
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Pigmentary retinopathy, Cryptorchidism, Microphthalmia OMIM:614230
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse... ORPHA:2538
Phace Association
Optic atrophy, Lingual thyroid, Increased retinal vascularity, Microphthalmia, Optic nerve hypopl... OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Cockayne Syndrome
Cryptorchidism, Microphthalmia, Hepatomegaly, Optic disc pallor, Urinary incontinence, Nephrotic ... ORPHA:191
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Cryptorchidism, Microphthalmia, Micropenis OMIM:264480
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... OMIM:608940
Kenny-Caffey Syndrome, Type 2
Anemia, Papilledema, Microphthalmia, Hypoparathyroidism, Retinal calcification OMIM:127000
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Curry-Jones Syndrome
Optic disc coloboma, Microphthalmia ORPHA:1553
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Lymphopenia, Neutropenia, Bilateral cryptorchidism OMIM:616395
Hydrolethalus
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Abnormality of retinal pigmentation... ORPHA:2526
Cat Eye Syndrome
Renal agenesis, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, ... OMIM:115470
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Nep... OMIM:312870
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Optic atrophy, Hypoplasia of the iris, Renal insufficiency, P... OMIM:251300
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Microphthalmia,... OMIM:206900
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Chorioretinal coloboma, Microphthalmia OMIM:619135
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Anemia, Microphthalmia,... OMIM:614083
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Microphthalmia ORPHA:228390
Steinfeld Syndrome
Retinal coloboma, Absent gallbladder, Unilateral renal dysplasia, Microphthalmia OMIM:184705
Oculofaciocardiodental Syndrome
Retinal detachment, Microphthalmia ORPHA:2712
Atelis Syndrome 2
Microphthalmia, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Thrombocytopenia, A... OMIM:620185
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Microphthalm... ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Microphthalmia OMIM:253800
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Microphthalmia OMIM:616449
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Vacterl With Hydrocephalus
Renal agenesis, Abnormal optic nerve morphology, Cryptorchidism, Anophthalmia, Renal hypoplasia/a... ORPHA:3412
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Chorioretinal dystrophy, Neut... ORPHA:193
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Chorioretinal coloboma, Cryptorchidism, Macular hypoplasia, Thro... OMIM:147791
Monosomy 18P
Microphthalmia ORPHA:1598
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Galloway-Mowat Syndrome 3
Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, M... OMIM:617729
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Histiocytoid Cardiomyopathy
Optic atrophy, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Renal cyst, Microphthalmia, ... ORPHA:137675
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Abnormal optic... ORPHA:508498
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Chorioretinal coloboma, Hypoplasia of the iris, Horseshoe kidney, R... ORPHA:2092
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Cryptorchidism, Left ventricular hypertrophy, Microphthalmia, Hypospadias OMIM:619148
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microphthalmia ORPHA:35173
Holoprosencephaly
Optic atrophy, Abnormality of the urinary system, Chorioretinal coloboma, Panhypopituitarism, Abn... ORPHA:2162
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Retinal dystrophy, Anophthalmia, Abnormality of retinal pigmentation, ... ORPHA:2556
Martsolf Syndrome 1
Micropenis, Cryptorchidism, Microphthalmia OMIM:212720
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Trisomy 18
Abnormality of retinal pigmentation, Cryptorchidism, Hydronephrosis, Abnormality of the upper uri... ORPHA:3380
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Microphthalmia, Micropenis ORPHA:1692
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Abnormal localization of kidney, Cryptorchidism, Renal hypoplasia/aplasia, Microphth... ORPHA:2166
Incontinentia Pigmenti
Supernumerary nipple, Retinal vascular proliferation, Eosinophilia, Retinal detachment, Microphth... ORPHA:464
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:464738
3Q29 Microdeletion Syndrome
Horseshoe kidney, Hypospadias, Microphthalmia ORPHA:65286
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux, Cryptorchidism, Microphthalmia ORPHA:250989
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia, Cryptorchidism, Microphthalmia OMIM:616300
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Microphthalmia ORPHA:284160
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Chorioretinal coloboma, Microphthalmia ORPHA:268249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Cerebrooculofacioskeletal Syndrome 4
Abnormal retinal morphology, Bilateral microphthalmos OMIM:610758
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Renal hypoplasia, Severe B lymphocytopenia, Lymphopenia, Cryptorchidism, Thromb... OMIM:620005
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Hypoplasia of the iris, Renal insufficiency, Cryptorchidis... OMIM:133540
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperparathyroidism, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Cr... ORPHA:534
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Renal cyst, Microphthalmi... OMIM:616975
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Dubowitz Syndrome
Aplastic anemia, Hypoplasia of the iris, Cryptorchidism, Rod-cone dystrophy, Microphthalmia, Acut... OMIM:223370
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia, Microphthalmia ORPHA:974
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Fanconi Anemia
Abnormal localization of kidney, Abnormality of the urinary system, Hydroureter, Recurrent urinar... ORPHA:84
22Q11.2 Deletion Syndrome
Optic atrophy, Renal hypoplasia, Cholelithiasis, Retinal arteriolar tortuosity, Vesicoureteral re... ORPHA:567
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2250
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Rodrigues Blindness
Microphthalmia OMIM:268320
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Chordee, Microphthalmia, Micropenis, Hypospadias OMIM:309801
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia OMIM:618727
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Meckel Syndrome 14
Polycystic kidney dysplasia, Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Micropenis, Cryptorchidism, Microphthalmia OMIM:300895
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Fryns Syndrome
Ectopic pancreatic tissue, Renal agenesis, Polysplenia, Cryptorchidism, Hydronephrosis, Renal cys... OMIM:229850
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Microphthalmia With Limb Anomalies
Optic atrophy, Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Monosomy 9Q22.3
Ovarian fibroma, Retinopathy, Nephroblastoma, Microphthalmia ORPHA:77301
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Optic disc coloboma, Chorioretinal colobo... ORPHA:141099
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Optic disc coloboma, Microphthalmia ORPHA:251014
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Cryptorchidism, Optic disc coloboma, Microphthalmia OMIM:234100
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Retinoblastoma, Microphthalmia, Mic... OMIM:613884
Frontorhiny
Hypopituitarism, Microphthalmia ORPHA:391474
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Thyroid hypoplasia ORPHA:861
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Cryptorch... OMIM:249000
Tetraamelia Syndrome 1
Renal agenesis, Adrenal gland agenesis, Urethral atresia, Microphthalmia, Asplenia OMIM:273395
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size, Congenital hypoparathyroidism, Papilledema, ... ORPHA:93325
Microphthalmia, Syndromic 2
Cryptorchidism, Anophthalmia, Phthisis bulbi, Retinal detachment, Remnants of the hyaloid vascula... OMIM:300166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Microphthalmia, B... OMIM:253280
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Acute lymphoblastic leukemia, Nephroblastoma, Microphthalmia ORPHA:1052
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
Norrie Disease
Optic atrophy, Hypoplasia of the iris, Cryptorchidism, Abnormal vitreous humor morphology, Abnorm... ORPHA:649
Phace Syndrome
Retinal vascular malformation, Ectopic thyroid, Microphthalmia, Lens coloboma, Optic nerve hypopl... ORPHA:42775
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Optic disc coloboma, Aplasia of the thymus, Hypoplastic nipples, Microphthalmia, H... OMIM:620186
Trichothiodystrophy
Macular degeneration, Increased mean corpuscular hemoglobin concentration, Bilateral microphthalm... ORPHA:33364
Charge Syndrome
Renal hypoplasia, Parathyroid hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Lym... OMIM:214800
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Retinal detachment, Chorioretinal lacunae, Microphthalmia OMIM:304050
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, A... ORPHA:138
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Exudative retinopathy, Microphthalmia, Retinal calcification OMIM:259770
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Microphthalmia OMIM:601812
Focal Dermal Hypoplasia
Optic atrophy, Chorioretinal coloboma, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Anir... OMIM:305600
Roberts Syndrome
Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia, Polycystic kidney dysplasia ORPHA:3103
Townes-Brocks Syndrome
Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesicoureteral reflux, Cryptorchid... ORPHA:857
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Microphthalmia OMIM:201180
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypospadias, Cryptorchidism, Microphthalmia OMIM:603457
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Horseshoe kidney, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias OMIM:609945
Bartsocas-Papas Syndrome 1
Micropenis, Ectopic kidney, Microphthalmia, Bilateral cryptorchidism OMIM:263650
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Microphthalmia OMIM:110100
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Monosomy 9P
Microphthalmia, Hypospadias, Cryptorchidism, Ureteropelvic junction obstruction ORPHA:261112
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormal localization of kidney, Absent gallbladder, Renal hypoplasia/aplasia ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Renpenning Syndrome 1
Renal hypoplasia, Decreased testicular size, Phimosis, Microphthalmia, Hypospadias OMIM:309500
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele, Cryptorchidism, Microphthalmia OMIM:616734
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Absent gallbladder, Microphthalmia OMIM:617925
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Pallister-Hall Syndrome
Unilateral renal agenesis, Secondary growth hormone deficiency, Bilateral renal agenesis, Renal d... ORPHA:672
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
Microphthalmia, Syndromic 6
Renal hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Anterior hypopituitarism, Retinal... OMIM:607932
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... ORPHA:637
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral renal hypoplasia, Bilateral mic... ORPHA:508488
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Microphthalmia OMIM:268400
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Hydrolethalus Syndrome 1
Accessory spleen, Hydronephrosis, Adrenal gland dysgenesis, Microphthalmia, Hypospadias OMIM:236680
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia ORPHA:2108
Yunis-Varon Syndrome
Bilateral microphthalmos, Renal artery stenosis, Cryptorchidism, Cardiomegaly, Microphthalmia, Mi... ORPHA:3472
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Retinal coloboma, Cryptorchidism, Anophthalmia, Renal cyst,... OMIM:113620
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Mic... OMIM:157170
Traboulsi Syndrome
Homocystinuria, Microphthalmia OMIM:601552
Fraser Syndrome
Abnormality of the urinary system, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Urethr... ORPHA:2052
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tortuosity, Peripapill... OMIM:175780
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasi... OMIM:219000
Fontaine Progeroid Syndrome
Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hypertrophy, Microphthalmia,... OMIM:612289
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos, Microphthalmia OMIM:610828
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Microphthalmia, Syndromic 1
Renal hypoplasia, Hydroureter, Optic disc coloboma, Chorioretinal coloboma, Cryptorchidism, Anoph... OMIM:309800
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Neuroocular Syndrome 1
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Microphthalmia OMIM:619539
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Vesicoureteral reflux, Cryptorchidi... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Vesicoureteral reflux, Cryptorchidi... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Optic atrophy, Multicystic kidney dysplasia, Duplication of renal pelvis, Retinal c... ORPHA:261552
Mowat-Wilson Syndrome
Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Abnormality of the kidney, Micropht... OMIM:235730
Witteveen-Kolk Syndrome
Male urethral meatus stenosis, Microphallus, Decreased response to growth hormone stimulation tes... OMIM:613406
Monosomy 13Q14
Retinoblastoma, Microphthalmia ORPHA:1587
Isolated Arrhinia
Microphthalmia ORPHA:1134
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Long penis, Horseshoe kidney, Cryptorchidism, Microphthalmia, Polycystic kidney... OMIM:268300
Neu-Laxova Syndrome 1
Renal agenesis, Cryptorchidism, Microphthalmia OMIM:256520
Adams-Oliver Syndrome 1
Microphthalmia, Supernumerary nipple OMIM:100300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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
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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