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Gene: Greb1l MGI:3576497

Gene Summary

Name:

growth regulation by estrogen in breast cancer-like

Synonyms:

mKIAA4095, AK220484

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
cataract	Greb1l^em1(IMPC)J	HET	Early adult	2.63×10^-05
abnormal neural tube closure	Greb1l^em1(IMPC)J	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Greb1l^em1(IMPC)J	HOM	Early adult	0.00
increased total body fat amount	Greb1l^em1(IMPC)J	HET	Early adult	7.80×10^-11
abnormal embryo turning	Greb1l^em1(IMPC)J	HOM	E9.5	0.00
embryonic growth retardation	Greb1l^em1(IMPC)J	HOM	E9.5	0.00
decreased lean body mass	Greb1l^em1(IMPC)J	HET	Early adult	5.40×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Greb1l (3 diseases)
Human diseases predicted to be associated with Greb1l (436 diseases)

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

Disease	Matching phenotypes	Source
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Sirenomelia, Abnormal intestine morphology, Tra...	ORPHA:1848
Deafness, Autosomal Dominant 80		OMIM:619274

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

Disease	Matching phenotypes	Source
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Neonatal death, Ventricular sept...	OMIM:615524
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
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, Abnormal biliary tract morphology, Abnormal...	ORPHA:3032
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Trichomegaly	Cataract	OMIM:190330
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Nathalie Syndrome	Cataract	ORPHA:2663
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Serkal Syndrome	Abnormal penis morphology, Pulmonary hypoplasia, Malrotation of small bowel, Ventricular septal d...	ORPHA:139466
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Meckel Syndrome, Type 6	Hepatic fibrosis, Occipital encephalocele, Horseshoe kidney, Absent gallbladder, Hepatic cysts, C...	OMIM:612284
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ...	OMIM:615415
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Decreased fertility, Cryptorchidism, Ven...	ORPHA:2970
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Lacticaciduria, Elevated urinary...	OMIM:619003
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotation, Cry...	OMIM:618316
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:3033
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet...	ORPHA:2847
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne...	ORPHA:2470
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Abnormal heart morphology, Decreased testicular size, Cryptorchidis...	OMIM:300978
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Microphthalmia, Syndromic 9	Cryptorchidism, Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle...	OMIM:601186
Czeizel-Losonci Syndrome	Ureteral agenesis, Myelomeningocele, High palate, Hydronephrosis, Hypoplastic nipples, Tracheoeso...	ORPHA:2437
Bardet-Biedl Syndrome 18	Cataract, Obesity	OMIM:615995
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethra...	OMIM:314390
Pentalogy Of Cantrell	Hypospadias, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladde...	ORPHA:1335
Joubert Syndrome 15	Micropenis, Ambiguous genitalia, Nephronophthisis, Exencephaly	OMIM:614464
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Alg3-Cdg	Decreased liver function, Cardiomyopathy, Abnormality of the gastrointestinal tract, High palate,...	ORPHA:79321
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Hydrocephalus, Micropenis, Anterior hypopituitarism, Cleft...	OMIM:241800
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia	OMIM:614096
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation, Pulmonary hypoplasia	OMIM:601163
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilatera...	OMIM:611812
Galactosemia Ii	Cataract	OMIM:230200
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Galactosemia Iv	Cataract	OMIM:618881
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 47	Cataract, Microcornea	OMIM:612018
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of...	ORPHA:991
Vacterl/Vater Association	Multicystic kidney dysplasia, Occipital encephalocele, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:887
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation	ORPHA:2631
Meacham Syndrome	Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atr...	OMIM:608978
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Renal hypoplasia, Intrauterine growth retardation, Cryptor...	OMIM:248700
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Pyloric stenosis, Bifid scrotum, Anteriorly placed anus, Cryptorchidis...	OMIM:619148
Short-Rib Thoracic Dysplasia 12	Neonatal death, Ventricular septal defect, Hepatomegaly, Holoprosencephaly, Patent ductus arterio...	OMIM:269860
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Coenzyme Q10 Deficiency, Primary, 8	Intrauterine growth retardation, Abnormal renal corticomedullary differentiation, Left ventricula...	OMIM:616733
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Abnormal heart morphology, Bicornuate uterus, Polycy...	OMIM:263210
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Pul...	OMIM:236500
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Dysphagia, Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Thoracoabdominal Syndrome	Anencephaly, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Hypospadias, Pat...	OMIM:313850
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Absent uvula, Pulmonary hypoplasia	OMIM:616531
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Distal Triplication 15Q	Horseshoe kidney, Abnormal heart morphology, Intrauterine growth retardation, Hydronephrosis, Atr...	ORPHA:314588
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotatio...	ORPHA:2059
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormal heart morphology, Intraut...	ORPHA:1708
Autosomal Recessive Amelia	Small scrotum, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morpholog...	ORPHA:1027
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Ventricular septa...	OMIM:616897
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Intrauter...	ORPHA:2257
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Meacham Syndrome	Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, C...	ORPHA:3097
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Failure to thrive	ORPHA:2278
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Nathalie Syndrome	Cataract	OMIM:255990
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Hypospadias, Aplasia/Hypoplasia of the lungs, Abnormal testis m...	ORPHA:1548
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes...	ORPHA:411709
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Inguinal hernia, Small for gestational age, Decreased body weight	OMIM:618392
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal morphology of female internal genitalia, Pulmonary hypoplasia	ORPHA:2141
Caudal Regression Syndrome	Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchidism, Ambiguous ...	ORPHA:3027
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Cryptorchidism, Intestinal hypoplasia, Cleft palate, Pulmonary h...	ORPHA:994
Stiff Skin Syndrome	Cataract, Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camptodactyly	OMIM:184900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Stillbirth, Pulmonary hypoplasia	OMIM:617468
Meckel Syndrome 14	Hepatic fibrosis, Occipital encephalocele, Aplasia of the uterus, Ambiguous genitalia, Pneumothor...	OMIM:619879
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract, Inguinal hernia, Umbilical hernia	ORPHA:1373
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Autosomal Recessive Multiple Pterygium Syndrome	Small scrotum, Umbilical hernia, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, A...	ORPHA:2990
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Holoprosencephaly, Cleft palate, Hypergonadotropic h...	ORPHA:250999
Congenital Varicella Syndrome	Cataract, Atypical scarring of skin	ORPHA:291
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Azoospermia, Pleural eff...	OMIM:235200
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o...	OMIM:200995
Penile Agenesis	Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Bilateral lung agenesis, Unilateral r...	ORPHA:49
Kahrizi Syndrome	Cataract, Iris coloboma, Knee flexion contracture, Elbow contracture	OMIM:612713
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Dyssegmental Dysplasia, Silverman-Handmaker Type	Abnormal heart morphology, Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonary ...	ORPHA:1865
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Cryptorchidism, Pulmonary hypoplasia	OMIM:224410
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho...	OMIM:613490
Thanatophoric Dysplasia	Intrauterine growth retardation, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, P...	ORPHA:2655
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Holoprosencephaly,...	OMIM:202650
Scimitar Syndrome	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar...	ORPHA:185
Vacterl With Hydrocephalus	Intrauterine growth retardation, Cryptorchidism, Tracheoesophageal fistula, Abnormal fallopian tu...	ORPHA:3412
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Intrauterine growth retardation, Splenomegaly, Aqueductal stenosis, Pulmo...	ORPHA:3035
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Esophageal Atresia	Pyloric stenosis, Barrett esophagus, Gastroesophageal reflux, Gastrointestinal carcinoma, Bronchi...	ORPHA:1199
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Lobulated tongue, Hamartoma of tongue, Cryptorchidism, Encephalocele, Renal cys...	OMIM:616300
Nephronophthisis 2	Nephronophthisis, Stage 5 chronic kidney disease, Situs inversus totalis, Absence of renal cortic...	OMIM:602088
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V...	OMIM:617063
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi...	ORPHA:1756
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor...	ORPHA:2357
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Decreased body weight, Developmental cataract, Camptodactyly	OMIM:619420
Fryns Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anal atresia, Hypospadias, Duode...	OMIM:229850
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormal morphology of female internal genitalia, Abnormality of the ure...	ORPHA:1834
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Intr...	OMIM:214100
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Mu...	OMIM:613177
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Meckel Syndrome, Type 1	Occipital encephalocele, Abnormality of the ureter, Large placenta, Cryptorchidism, Anal atresia,...	OMIM:249000
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, High palate, Holoprosencephaly, ...	OMIM:612530
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Anal atresia, Atri...	OMIM:614080
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Gastroesophageal reflux, Crypt...	ORPHA:85201
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Intrauterine gro...	ORPHA:96179
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Occipital meningocele, Anencephaly, Atrial septal defect, Hydrocephalus, Mic...	OMIM:616546
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc...	ORPHA:157798
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Sirenomelia, Abnormal intestine morphology, Tra...	ORPHA:1848
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Atrial septal defect, Shawl scrotum, Bicornuate uterus, Hydrocele test...	OMIM:145420
Atelosteogenesis, Type Ii	Stillbirth, Cleft palate, Pulmonary hypoplasia	OMIM:256050
Oligomeganephronia	Unilateral renal agenesis, Secundum atrial septal defect, Branchial cyst, Bilateral renal hypopla...	ORPHA:2260
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ...	OMIM:236700
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverticulum, Abnormal lung lobatio...	ORPHA:1666
Otopalatodigital Syndrome Type 2	Myelomeningocele, Ureteral obstruction, Abnormal heart valve morphology, Encephalocele, Hydroneph...	ORPHA:90652
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se...	OMIM:270400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Renal hypoplasia, Short uvula, Renal cyst, Polycystic kidney dysplasia, High pa...	OMIM:614091
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto...	ORPHA:281090
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, High palate, Dysphagia, Pate...	OMIM:616866
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, High palate, Pulmonary hypoplasia	OMIM:255320
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Intrauterine growth retardation, Cleft palate, Pulmonary hypoplasia	OMIM:312150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d...	OMIM:263520
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Right ventricular dilatation, Gastroesophageal reflux, Abnormal...	ORPHA:79328
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Lethal Congenital Contracture Syndrome 10	Narrow palate, Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hypoplas...	OMIM:617022
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid...	ORPHA:1120
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias, Dysphagia, Pulmonary hypoplasia	ORPHA:171430
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Kagami-Ogata Syndrome	Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Patent ductus arteri...	OMIM:608149
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Intrauterine growth retardation, Cleft palate, Pulmonary hypoplasia	OMIM:253290
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Diaphanospondylodysostosis	Horseshoe kidney, Intrauterine growth retardation, Abnormal liver lobulation, Cleft palate, Enlar...	OMIM:608022
Atelosteogenesis Type I	Pulmonary hypoplasia, Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreat...	ORPHA:1190
Tarp Syndrome	Horseshoe kidney, Tetralogy of Fallot, Intrauterine growth retardation, Cryptorchidism, Hydroneph...	ORPHA:2886
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Vaginal atresia, Bicornuate uterus, Pulmonary hypoplasia	OMIM:191830
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Hepatic agenesis...	ORPHA:1692
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Hamartoma of tongue, Septate vagina, Absent gallbladder, C...	OMIM:617925
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t...	OMIM:308700
Gaucher Disease, Perinatal Lethal	Hepatic failure, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Neonatal deat...	OMIM:608013
Acro-Renal-Mandibular Syndrome	Uterus didelphys, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Intrauterine growth r...	ORPHA:958
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, At...	ORPHA:818
Odontochondrodysplasia 1	Recurrent respiratory infections, Nephronophthisis, Polycystic kidney dysplasia, Pulmonary hypopl...	OMIM:184260
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism...	OMIM:308750
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Distal Deletion 15Q	Hypoplastic left heart, Multicystic kidney dysplasia, Double outlet right ventricle with doubly c...	ORPHA:1596
Truncus Arteriosus	Ventricular septal defect, Pulmonary edema, Atrial septal defect, Patent ductus arteriosus, Abnor...	ORPHA:3384
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal d...	OMIM:601612
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Bladder Exstrophy	Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ...	ORPHA:93930
Fraser Syndrome 1	Renal hypoplasia, Clitoral hypertrophy, Myelomeningocele, Abnormal heart morphology, Abnormal sma...	OMIM:219000
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Neu-Laxova Syndrome	Bifid uvula, Hypogonadism, Intrauterine growth retardation, External genital hypoplasia, Submucou...	ORPHA:2671
Mosaic Trisomy 9	Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dext...	ORPHA:99776
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re...	OMIM:619708
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Splen...	OMIM:620371
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Holoprosence...	ORPHA:93274
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension...	ORPHA:465508
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Aniridia 3	Cataract, Aniridia	OMIM:617142
Ogden Syndrome	Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Atrial septal ...	OMIM:300855
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Pneumothorax, Cardiomegaly, Pulmonary hypoplasia	OMIM:620306
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Umbilical hernia, Hydronephrosis, Single ventricle, Adrenal hypoplasia...	OMIM:308050
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Intrauterine growth retardation, Abnormal pleura morphology, Aplasia/Hypoplasia ...	ORPHA:2570
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Oligozoospermia, Dextrocard...	ORPHA:3310
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Bifid scrotum, Encephalocele, Exencephaly, Shawl scrotum, Hypospadias,...	ORPHA:2211
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Hypogonadism, Intrauterine growth retardation, Ventricular septal defect,...	OMIM:300514
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Anteriorly placed anus, Umbilical ...	ORPHA:798
Jeune Syndrome	Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Aplasia/Hypoplasia ...	ORPHA:474
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Distal urethral duplication, Vesicoureteral reflux, Ectopic anus, ...	ORPHA:2549
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Encephal...	ORPHA:2052
Silver-Russell Syndrome 1	Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret...	OMIM:180860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Cholelithiasis, Pancreatic hypoplasia, Intrauterine growth retardation, Cryptor...	ORPHA:83617
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Tetraamelia Syndrome 1	Absent external genitalia, Pulmonary hypoplasia, Adrenal gland agenesis, Urethral atresia, Hydroc...	OMIM:273395
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Anuria, Megacystis, Ileal atresia, Pyelonephritis, Peritonitis, Patent ductus arterio...	OMIM:619351
Fontaine Progeroid Syndrome	Small scrotum, Cryptorchidism, Protruding tongue, Neonatal death, Bicuspid aortic valve, Hypoplas...	OMIM:612289
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul...	OMIM:301068
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Tetraamelia Syndrome 2	Absent nipple, Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pul...	OMIM:618021
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Recurrent respiratory infections, Decreased testicular size, In...	ORPHA:2753
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral...	OMIM:271520
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect...	OMIM:306955
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Cryptorchidism, Short umbilical...	OMIM:256520
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Umbilical hernia, Intestinal malrotation, Cryptorchidism, Encephalocele, ...	ORPHA:2166
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Neonatal death, Aqueductal stenosis, Cleft palate, Pulmonary hyp...	OMIM:251230
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Abnormality of the urethra, Aplasia/Hypoplasia of the lungs, Cle...	ORPHA:2145
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Dysphagia, Testi...	OMIM:222300
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Inguinal hernia	ORPHA:1069
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Tetrasomy 5P	Recurrent respiratory infections, High palate, Hydrocephalus, Pulmonary hypoplasia	ORPHA:3309
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Cryptorchidism, Aplasia/Hypoplasia of the l...	ORPHA:3301
Lumbar Syndrome	Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora,...	ORPHA:83628
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Cryptorchidism, Anal atresia, Aplasia/Hypoplasia of the lungs, Narrow palate	ORPHA:2063
Tetraploidy	Aplasia/Hypoplasia of the thymus, Intrauterine growth retardation, Hydronephrosis, Aplasia/Hypopl...	ORPHA:3305
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Anal stenosis, Malrotation of ...	OMIM:606170
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Splenomegaly, Renal cyst, Dysphagia, Pulmonary hypoplasia	OMIM:615636
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the lungs, Cryptorch...	ORPHA:1263
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Hors...	ORPHA:2538
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Anomalous origin of right pulmonary artery from ascending aorta, Tetralog...	ORPHA:99050
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Pulmonary hypoplasia	ORPHA:85166
Multiple Pterygium Syndrome, Escobar Variant	Umbilical hernia, Cryptorchidism, Hypoplastic nipples, Absence of labia majora, High palate, Hypo...	OMIM:265000
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu...	ORPHA:980
Congenital Myopathy 17	Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory tract infection, Hydronephrosis...	OMIM:618975
Congenital Tracheal Stenosis	Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal s...	ORPHA:141127
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Raine Syndrome	Hydroureter, Protruding tongue, Neonatal death, Hydronephrosis, Hydrocephalus, High palate, Cleft...	OMIM:259775
Restrictive Dermopathy	Microcolon, Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord...	ORPHA:1662
Acrorenal-Mandibular Syndrome	Narrow palate, Absent nipple, Uterus didelphys, Abnormality of the ureter, Intrauterine growth re...	OMIM:200980
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Cleft palate, Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:3429
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis	OMIM:602200
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Ellis Van Creveld Syndrome	Hydroureter, Abnormal morphology of female internal genitalia, Emphysema, Abnormality of the uret...	ORPHA:289
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Portal ...	OMIM:620367
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Vaginal fistula, Abnormal female external genitalia morphology, Persistent cloaca, Patent ductus ...	ORPHA:1112
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Neonatal death, Ventricular septal defect, Bicuspid aortic ...	OMIM:265380
Metatropic Dysplasia	Hydrocephalus, Aplasia/Hypoplasia of the lungs, Cleft palate	ORPHA:2635
Cloacal Exstrophy	Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Myelomeningocele, Intestinal ...	ORPHA:93929
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Dysphagia, Hypogonadism	OMIM:160900
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Cryptorchidism, Ventricular septal defect, Aortopulmonary window, He...	OMIM:620025
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:932
Greenberg Dysplasia	Abnormal lung lobation, Hepatosplenomegaly, Large placenta, Pancreatic islet-cell hyperplasia, Ne...	OMIM:215140
Holoprosencephaly	Spinal dysraphism, Gastroesophageal reflux, Tetralogy of Fallot, Panhypopituitarism, Abnormality ...	ORPHA:2162
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Small placenta, Intrauterine growth retardation, Cryptorchidism, Short umbil...	OMIM:208150
Right Atrial Isomerism	Common atrium, Total anomalous pulmonary venous return, Polysplenia, Abnormal lung lobation, Tetr...	OMIM:208530
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:270100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia	OMIM:151210
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Umbilical hernia, Horseshoe kidney, Acute ...	ORPHA:2092
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Hydronephrosis, ...	ORPHA:93271
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Hypogonadism, Abnormal heart valve morphology, Cryptorchidism, Agenesis of...	ORPHA:536471
Hereditary Orotic Aciduria	Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria	ORPHA:30
Restrictive Dermopathy 1	Intrauterine growth retardation, Hydropic placenta, Short umbilical cord, Submucous cleft hard pa...	OMIM:275210
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:93298
Urban-Rogers-Meyer Syndrome	Abnormality of the ureter, Hypoplasia of penis	ORPHA:3409
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Albuminuria, Dysphagia, Acute ki...	ORPHA:90291
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:93299
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, High palate, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Renal Tubular Dysgenesis	Anuria, Pulmonary hypoplasia	OMIM:267430
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Hypertrophic cardiomyopathy, External genital hypoplasia, Intrauterine growth ...	ORPHA:96334
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Mitral valve prolapse, Hydrocephalus, High palate, Repeated pneumothoraces, Pulmonar...	ORPHA:536467
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr...	ORPHA:2973
Bone Marrow Failure Syndrome 5	Testicular atrophy, Pulmonary fibrosis, Oral leukoplakia, Hypogonadism	OMIM:618165
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Oeis Complex	Hydroureter, Vesicovaginal fistula, Duplicated colon, Anteriorly placed anus, Myelomeningocele, A...	OMIM:258040
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Stuve-Wiedemann Syndrome 1	Smooth tongue, Intrauterine growth retardation, Pulmonary arterial medial hypertrophy, Dysphagia,...	OMIM:601559
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Achondrogenesis, Type Ia	Protruding tongue, Stillbirth, Pulmonary hypoplasia	OMIM:200600
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis, Oral leukoplakia	OMIM:613987
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus	ORPHA:3378
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor...	ORPHA:3404
Osteogenesis Imperfecta	Umbilical hernia, Intrauterine growth retardation, Mitral valve prolapse, Nephrolithiasis, Intest...	ORPHA:666
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Intrauterine growth retardation,...	ORPHA:2167
Achondroplasia	Hydrocephalus, Pulmonary hypoplasia	OMIM:100800
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Atelosteogenesis Type Ii	Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia	ORPHA:56304
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Aredyld Syndrome	Abnormality of the ureter	ORPHA:1133
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Peutz-Jeghers Syndrome	Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Smith-Magenis Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:819
Thanatophoric Dysplasia Type 1	Hydrocephalus, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus	ORPHA:1860
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Cryptorchidism, Ventricular septal de...	OMIM:601803
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Lesch-Nyhan Syndrome	Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Dysphagia	OMIM:300322
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormal heart valve morphology, Intrauterine growth retardation, Abnor...	ORPHA:280
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Microphthalmia, Syndromic 1	High, narrow palate, Pyloric stenosis, Renal hypoplasia, Hydroureter, Cryptorchidism, Bicuspid ao...	OMIM:309800
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina...	ORPHA:512
Autosomal Recessive Spondylocostal Dysostosis	Abnormality of the ureter, Hypospadias	ORPHA:2311
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Rectal absc...	OMIM:600145
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Pulmonary hypoplasia	ORPHA:50945
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep...	ORPHA:3339
Alagille Syndrome	Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia	ORPHA:52
Constricting Bands, Congenital	Abnormal lung lobation, Encephalocele, Ectopia cordis, Bladder exstrophy, Cleft palate	OMIM:217100
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Abnormal lung lobation, Intrauterine growth retarda...	OMIM:236680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame...	OMIM:157640
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Occipital encephalocele, Tetralogy of Fallot, Vesicoureteral reflux...	OMIM:164210
Baller-Gerold Syndrome	Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux	ORPHA:1225
Dpagt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary hypoplasia	ORPHA:86309
Zttk Syndrome	Unilateral renal agenesis, Bifid uvula, Horseshoe kidney, Intrauterine growth retardation, Absent...	OMIM:617140
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter	ORPHA:3253
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, ...	ORPHA:273
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, High palate,...	ORPHA:3063
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Viss Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Celiac...	OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Bifid uvula, Gastroesophageal reflux, Emphysema, Horseshoe kidney, Int...	ORPHA:500150
Schwartz-Jampel Syndrome	Abnormality of the ureter, Abnormality of the urinary system, Nephrolithiasis	ORPHA:800
Semilobar Holoprosencephaly	Short stature, Growth delay, Hydrocephalus, Neural tube defect	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Growth delay, Hydrocephalus, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Growth delay, Hydrocephalus, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Growth delay, Hydrocephalus, Neural tube defect	ORPHA:93924
Deafness, Autosomal Dominant 80		OMIM:619274

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 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)	Greb1l^{tm1a(EUCOMM)Hmgu}	37852253

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MGI Allele	Allele Type	Produced
Greb1l^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Greb1l^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Greb1l^em1(IMPC)J	Exon Deletion	Mice
Greb1l^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Greb1l^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Greb1l MGI:3576497

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Gross Morphology Embryo E9.5

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Greb1l mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data