Gene Summary

growth regulation by estrogen in breast cancer-like
AK220484,  mKIAA4095

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
embryonic growth retardation Greb1lem1(IMPC)J HOM E9.5 0.00
increased total body fat amount Greb1lem1(IMPC)J HET Early adult 7.80×10-11
preweaning lethality, complete penetrance Greb1lem1(IMPC)J HOM   Early adult 0.00
abnormal neural tube closure Greb1lem1(IMPC)J HOM E9.5 0.00
decreased lean body mass Greb1lem1(IMPC)J HET Early adult 5.40×10-08
abnormal embryo turning Greb1lem1(IMPC)J HOM E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Forepaw

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Greb1l 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.

The table below shows human diseases associated to Greb1l by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Greb1l by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... OMIM:615524
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Duplicated collecting system, Ureterocele OMIM:191650
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Meckel Syndrome, Type 6
Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Hydrocephalus, Bilobed ... OMIM:612284
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Malrotation of small bowel, Se... ORPHA:139466
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Parachute... OMIM:618316
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Neo... OMIM:619003
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot ORPHA:3033
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, D... ORPHA:2470
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... ORPHA:2847
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphology, Pulmonary h... OMIM:300978
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ... ORPHA:2437
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra... OMIM:314390
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neonatal death, Pe... OMIM:601186
Prune Belly Syndrome
Abnormality of the uterus, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspla... ORPHA:2970
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy, Intestinal malrotation OMIM:601163
Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Neural tube defec... ORPHA:79321
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept... ORPHA:1335
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Cleft palate, Micropenis, Pulmonary hypoplasia, Microglos... OMIM:241800
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Exencephaly, Nephronophthisis OMIM:614464
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate ORPHA:2631
Marden-Walker Syndrome
Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renal hypoplasi... OMIM:248700
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Ovotestis, Pulmonary artery stenosis, Cleft palate, Sex r... OMIM:611812
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal ren... OMIM:616733
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Bifid scrotum, Hypospadias, Pyloric stenosis, Cryptorchidism, Penoscrotal transpos... OMIM:619148
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Abnormality of... ORPHA:991
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Pulmonary hypoplasia... OMIM:236500
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Holoprosencephaly, Neonatal death, Patent foramen ovale, Hepatomegaly, Hamartom... OMIM:269860
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Atrial septal defect, Scimitar anomaly, Neonatal death, Cong... OMIM:608978
Lethal Congenital Contracture Syndrome 11
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:617194
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Pulmon... OMIM:263210
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Horseshoe kidney, Abnormal ... ORPHA:314588
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of... OMIM:313850
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptor... ORPHA:2059
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u... ORPHA:887
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Ventricular septal defect, Maternal diabe... ORPHA:1708
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ... OMIM:616897
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Intrauterine growth re... ORPHA:994
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... ORPHA:2257
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Maternal diabetes, Ectopic kidney, Cryptorchidism, Abn... ORPHA:3027
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Adrenal hypoplasia OMIM:613124
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, High palate, Pulmonary hypoplasia OMIM:617468
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal car... ORPHA:1027
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Holopr... ORPHA:250999
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia ORPHA:2141
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Ventricular septal defect, Unilateral rena... ORPHA:411709
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia, Cryptorchidism OMIM:224410
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, Pulmonary ... ORPHA:1865
Penile Agenesis
Atrial septal defect, Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal di... ORPHA:49
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Cleft palate, High p... ORPHA:2990
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Thanatophoric Dysplasia
Hydrocephalus, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Intrauterine... ORPHA:2655
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Cryptorchidism, Tracheoesop... ORPHA:3412
Meckel Syndrome 14
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Holoprosencephaly, Polycystic kidney dys... OMIM:619879
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intrauterine gro... ORPHA:3035
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology, Hy... ORPHA:1548
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, C... OMIM:616300
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,... OMIM:202650
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... OMIM:613490
Meacham Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormal lung lobation, Conotruncal defect, Abnor... ORPHA:3097
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation ORPHA:2140
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Meier-Gorlin Syndrome 7
Urethral stricture, Atrial septal defect, Anal stenosis, Clitoral hypertrophy, Hypospadias, Ventr... OMIM:617063
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ... ORPHA:1756
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... OMIM:214100
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Atrial septal defect, Ureteral hypoplasia, Patent ductus art... OMIM:614080
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Holop... OMIM:612530
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Abnormal external genitalia, Intestinal malr... ORPHA:1199
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal cyst, Atrial septal defect,... OMIM:229850
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... OMIM:249000
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Pulmonary h... ORPHA:85201
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent p... OMIM:613177
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia, Cleft palate OMIM:256050
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Polycystic k... OMIM:616546
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... ORPHA:281090
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cle... ORPHA:90652
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrot... OMIM:145420
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy... ORPHA:1848
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... OMIM:236700
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Pulmonary hypoplasia OMIM:255320
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart, Cleft palate OMIM:312150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros... OMIM:614091
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, G... OMIM:270400
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, High palate, Pulmonary h... OMIM:616866
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoes... ORPHA:1834
Hepatomegaly, Villous atrophy, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Per... ORPHA:79328
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricul... OMIM:263520
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... OMIM:617022
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic heart, Cleft palate OMIM:253290
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Penoscrotal Transposition
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Tarp Syndrome
Cryptorchidism, Tetralogy of Fallot, Cleft palate, Horseshoe kidney, Glossoptosis, Pulmonary hypo... ORPHA:2886
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Cleft palate, Horseshoe kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Intrauterine gro... OMIM:608022
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Pulmonary hypoplasia, Dysphagia ORPHA:171430
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Dysphagia, Ne... OMIM:608013
Atelosteogenesis Type I
Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat... ORPHA:1190
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Pulm... ORPHA:1692
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Complete atriov... OMIM:617925
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, Uterus didel... ORPHA:958
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly, Atrial s... ORPHA:818
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth... OMIM:184260
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lobation, Anomalous ... ORPHA:1120
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Bicornuate uterus, Pulmonary hypoplasia, Vaginal atresia OMIM:191830
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Multicystic kidney dysplasia, Hypospadias, Bicuspid... ORPHA:1596
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Urethral atresia, High palate, Enceph... ORPHA:2052
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Myelomeningocele... OMIM:219000
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Tetrasomy 9P
Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Absent gallbladder, ... ORPHA:3310
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Unilateral renal agenesis, Hydronephrosis, Mild intrauterine growth retardati... OMIM:308050
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Glandular hypospadias, Cardiomegaly OMIM:620306
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Perimembranous... ORPHA:83617
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Neu-Laxova Syndrome
External genital hypoplasia, Spina bifida, Submucous cleft hard palate, Cleft palate, Hypogonadis... ORPHA:2671
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morpho... OMIM:601612
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Hypospadias, Recurrent pneumonia, Abnormality of the ureter,... ORPHA:798
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Pulmona... OMIM:619351
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro... OMIM:208500
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Dysphagia... OMIM:222300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Peripheral ... OMIM:273395
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Gastroesophage... OMIM:612289
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Pulmonary hypoplasia OMIM:187600
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, ... OMIM:256520
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Holopros... ORPHA:93274
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Neonatal death, Intrauterine growth reta... OMIM:251230
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... ORPHA:2753
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Hydranencephaly, ... ORPHA:2570
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... ORPHA:2211
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Pulmonary hypoplasia, Dysphagia OMIM:615636
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hypoplasia ORPHA:3309
Jeune Syndrome
Renal insufficiency, Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Nephronophthisis,... ORPHA:474
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dys... OMIM:606170
Oculoauriculovertebral Spectrum With Radial Defects
Distal urethral duplication, Maternal diabetes, Cleft palate, Aplasia/Hypoplasia of the lungs, Ec... ORPHA:2549
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia... OMIM:271520
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate ORPHA:85166
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate, Hypoplastic nipp... OMIM:265000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortopulmo... ORPHA:99050
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Hiatus he... ORPHA:2538
Lumbar Syndrome
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou... ORPHA:83628
Congenital Myopathy 17
Respiratory tract infection, Renal hypoplasia, Cleft palate, High palate, Pulmonary hypoplasia, U... OMIM:618975
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br... ORPHA:980
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Patent ductus a... ORPHA:141127
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplasia of the lungs, Anal atresia ORPHA:2063
Raine Syndrome
Hydroureter, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, N... OMIM:259775
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Intrauterine growth retardation, Cleft palate, Aplasia/Hypoplasia of ... ORPHA:2145
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypo... ORPHA:3301
Restrictive Dermopathy
Ureteral duplication, Atrial septal defect, Hypospadias, Dextrocardia, Aplasia/Hypoplastia of the... ORPHA:1662
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia OMIM:160900
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Decreased response to growth hormone stimulation... ORPHA:1263
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Cleft palate, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Intrauterine gro... ORPHA:3305
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... OMIM:620025
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicornuate uterus, Hig... OMIM:200980
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Hydrocephalus, Cryptorchidism, Cleft palate, Stillbirth, High palate, Short ... OMIM:208150
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis... OMIM:618021
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Greenberg Dysplasia
Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ... OMIM:215140
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Hypogona... ORPHA:536471
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Congenital hepat... ORPHA:93271
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate ORPHA:3429
Restrictive Dermopathy 1
Ureteral duplication, Atrial septal defect, Hypospadias, Adrenal hypoplasia, Patent ductus arteri... OMIM:275210
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes... ORPHA:90291
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia, Abnormality of female external genitalia, Vaginal... ORPHA:1112
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... ORPHA:93929
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Oral leukoplakia, Pulmonary fibrosis OMIM:618165
Renal Tubular Dysgenesis
Anuria, Pulmonary hypoplasia OMIM:267430
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Hepatomegaly, Ventricular septal defect, External genital hypoplasia, Large... ORPHA:96334
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, High palate, Pulmonary hypoplasia OMIM:620369
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia, Cirrhosis OMIM:613987
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate ORPHA:2635
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholog... ORPHA:289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Hydrocephalus, Mitral valve prolapse, High palate, Pulmonar... ORPHA:536467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:932
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Pulmonary hypoplasia ORPHA:86822
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Proteinuria, Ventricul... ORPHA:2162
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia, Protruding tongue OMIM:200600
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Pat... ORPHA:2092
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93298
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Oeis Complex
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Hydrocephalus, A... OMIM:258040
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:93299
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... OMIM:305400
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia OMIM:601559
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Hydrocephalus, Noncommunicating hydrocep... ORPHA:666
Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Atelosteogenesis Type Ii
Bilateral cleft palate, Pulmonary hypoplasia, Cleft palate ORPHA:56304
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Exstrophy-Epispadias Complex
Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k... ORPHA:322
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Cleft palate, Aplasia/Hypoplasia... ORPHA:2167
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Dysphagia, Testicular atrophy OMIM:300322
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... OMIM:600145
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Microphthalmia, Syndromic 1
Hydroureter, Aganglionic megacolon, Hypospadias, Bicuspid aortic valve, High, narrow palate, Rect... OMIM:309800
Pallister-Killian Syndrome
Small scrotum, Renal cyst, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Hypospadias... OMIM:601803
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Thanatophoric Dysplasia Type 1
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Lethal Congenital Contracture Syndrome 9
Intrauterine growth retardation, Pulmonary hypoplasia, Short umbilical cord OMIM:616503
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Protruding tongue ORPHA:50945
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am... OMIM:157640
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,... OMIM:164210
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypospadias, Abnormal heart valve morphology, Cryptorchidism, A... ORPHA:280
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia ORPHA:86309
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig... ORPHA:3063
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Viss Syndrome
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... OMIM:619472
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis ORPHA:800
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924
Deafness, Autosomal Dominant 80


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 Greb1l

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 Greb1l.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells. Developmental cell (October 2023) Greb1ltm1a(EUCOMM)Hmgu 37852253

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MGI Allele Allele Type Produced
Greb1ltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Greb1ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Greb1lem1(IMPC)J Exon Deletion Mice
Greb1ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Greb1ltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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