Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Fas apoptotic inhibitory molecule 2
Synonyms:
NMP25,  Tmbim2,  2900002L20Rik,  Lfg,  lifeguard

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Faim2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Faim2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Dysmyelination With Jaundice
Hydronephrosis, Seizure, Hypoplasia of penis, Hydroureter OMIM:224250
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Seizure, Myoclonus, Hydroureter OMIM:618240
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Macdermot-Winter Syndrome
Hydronephrosis, Seizure OMIM:247990
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system, Seizure OMIM:617093
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:615415
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Seizure OMIM:616973
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Seizure, Hydroureter OMIM:598500
Cat-Eye Syndrome
Abnormal localization of kidney, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:195
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Se... ORPHA:251004
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Ureteral atresia OMIM:183802
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Renal dysplasia, Seizure OMIM:615287
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hydronephrosis, Renal hypoplasia, Seizure OMIM:618494
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Renal hypoplasia, Seizure, Aminoaciduria OMIM:617913
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Increased u... ORPHA:3467
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Seizure, Vesicoureteral reflux OMIM:613735
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Hydronephrosis, Seizure OMIM:618060
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Renal tubular atrop... OMIM:617303
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Endove Syndrome, Limb-Brain Type
Focal tonic seizure, Hydronephrosis, Recurrent urinary tract infections, Neurogenic bladder OMIM:619218
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Re... OMIM:208540
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Seizure, Hypospadias OMIM:616449
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Splenomegaly, He... OMIM:276700
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Focal impaired awareness seizure, Seizure, Hydronephrosis, Bilateral tonic-clonic seizure ORPHA:488613
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Bor Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Ureteropelvic junction ob... ORPHA:107
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Multicystic kidney dysplasia, Displacement of the ureth... ORPHA:2973
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Seizure OMIM:300048
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Seizure, Hypoplasia of penis ORPHA:2083
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Seizure OMIM:609757
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Webb-Dattani Syndrome
Hydronephrosis, Seizure, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Pancreatic hyperplasia,... OMIM:130650
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Seizure OMIM:179613
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Wolfram Syndrome 1
Hydroureter, Hydronephrosis, Seizure, Neurogenic bladder OMIM:222300
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Renal insufficiency OMIM:611209
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Multiple renal cysts ORPHA:464329
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Seizure ORPHA:531151
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Netherton Syndrome
Hydronephrosis, Ectopic kidney, Seizure, Aminoaciduria ORPHA:634
H Syndrome
Micropenis, Enlarged kidney, Abnormality of the kidney, Hepatosplenomegaly ORPHA:168569
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Seizure, Displacement of the urethral meatus ORPHA:1727
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Seizure, Multiple... ORPHA:3378
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis, Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Myoclonus ORPHA:364028
Joubert Syndrome 37
Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Hydronephrosis, Hepatomegaly, Abnormal renal artery morphol... ORPHA:79328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Urinary glycosaminoglycan e... ORPHA:505248
Diabetic Embryopathy
Micropenis, Hydronephrosis, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1926
Toluene Embryopathy
Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Abnormali... ORPHA:1834
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Hematuria, Renal duplication, Hydronephrosis, Ureterocele, Renal dy... ORPHA:79403
Suleiman-El-Hattab Syndrome
Hydronephrosis, Seizure OMIM:618950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Proteinuria, Hepatomeg... ORPHA:79259
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:619179
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Cardiac Valvular Defect, Developmental
Hydronephrosis, Urethral diverticulum, Hydroureter OMIM:212093
Zaki Syndrome
Renal agenesis, Hydronephrosis, Seizure OMIM:619648
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Ac... ORPHA:731
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Hydronephrosis, Polycystic kidney dysplasia, Re... ORPHA:2237
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Renal duplication, Hydronephrosis, Ureterocele, Renal dysplasia, Abnormalit... ORPHA:158684
Zellweger Syndrome
Hydronephrosis, Hepatomegaly, Multicystic kidney dysplasia, Seizure, Hypospadias ORPHA:912
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney, Seizure OMIM:613001
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hydronephrosis, Duplicated collecting system, Seizure ORPHA:541423
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Micropenis, Hydronephrosis, Hepatomegaly, Duplicated collecting system, Vesicoureteral reflux, Se... OMIM:301056
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Hydronephrosis, Renal hypoplasia, Microphallus, Seizure, Vesicoureteral reflux OMIM:618454
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Hydronephrosis, Hypoplasia of penis, Multicystic kidney dysplasia... ORPHA:887
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Dilatation of the renal pelvis, Abnormality of the kidney, Poly... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Cardiomegaly, Hypospadias OMIM:616897
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Dysuria, Hydronephrosis, He... ORPHA:49041
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal cyst, Ureteral atresia, Hydronephrosis, Renal hypoplasia, Multic... OMIM:614527
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Seizure, Hypoplasia of penis ORPHA:2510
Koolen-De Vries Syndrome
Ureteral duplication, Renal duplication, Hydronephrosis, Hypospadias, Seizure, Vesicoureteral reflux ORPHA:96169
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Microphthalmia, Lenz Type
Hydroureter, Hydronephrosis, Renal hypoplasia/aplasia, Seizure, Hypospadias ORPHA:568
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Seizure ORPHA:457193
Trisomy 1Q
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter ORPHA:261344
Czeizel-Losonci Syndrome
Hydronephrosis, Abnormality of the urinary system, Ureteral agenesis, Congenital megaureter ORPHA:2437
Pfeiffer Syndrome Type 3
Hydronephrosis, Horseshoe kidney, Seizure, Vesicoureteral reflux ORPHA:93260
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Spl... ORPHA:116
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Urethral stenosis ORPHA:261290
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Hepatomegaly, Enlarged ovaries, Long penis ORPHA:508
Kleefstra Syndrome
Renal cyst, Micropenis, Hydronephrosis, Hypoplasia of penis, Vesicoureteral reflux, Renal insuffi... ORPHA:261494
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Seizure ORPHA:85201
46,Xy Sex Reversal 4
Hydronephrosis, Renal dysplasia, Ureteropelvic junction obstruction OMIM:154230
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis ORPHA:1297
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Splenomegaly, Hepatomegaly, Neurogenic bladder, Seizure OMIM:608779
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Hydronephrosis, Renal hypoplasia, Pelvic kidney OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Ureteral duplication, Hydronephrosis, Renal dysplasia, Bladder trabeculation... OMIM:614080
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Micropenis, Hydronephrosis, Seizure, Hypospadias OMIM:301040
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Abnormality of the kidney, Abnormal localization of ki... ORPHA:261318
3C Syndrome
Hydronephrosis, Hypospadias, Hypoplasia of penis ORPHA:7
Duane-Radial Ray Syndrome
Renal agenesis, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Hydronephrosis,... OMIM:607323
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Hydronephrosis, Seizure, Myoclonus ORPHA:247262
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Renal dysplasia, Hydrou... OMIM:146510
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication OMIM:610733
Mckusick-Kaufman Syndrome
Glandular hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ur... ORPHA:2473
8P Inverted Duplication/Deletion Syndrome
Micropenis, Hydronephrosis, Seizure, Abnormality of the urinary system ORPHA:96092
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Renal dysplasia, Nephritis, Renal in... ORPHA:391641
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Seizure, Hypospadias OMIM:616737
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Horseshoe kidney, Hydronephrosis, Seizure, Vesicoureteral reflux OMIM:235510
Fryns Syndrome
Hydronephrosis, Hypospadias, Multicystic kidney dysplasia, Seizure, Vesicoureteral reflux ORPHA:2059
Johanson-Blizzard Syndrome
Hydronephrosis, Hypospadias, Hypoplasia of penis ORPHA:2315
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Renal hypoplasia/aplasia, Abnormal penis morphology, Hydronephrosis,... ORPHA:2461
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Cardiomegaly OMIM:306955
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Vesicoureteral reflux, Megacystis OMIM:155310
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Hydronephrosis, Nephroblastoma, Seizure, Abnormal rena... ORPHA:314585
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis, Splenomegaly, Hepatomegaly OMIM:235255
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infection... ORPHA:847
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Micropenis, Hydronephrosis, Splenomegaly, Hepatomegaly, Abnormal renal morpho... ORPHA:1655
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Pelvic kidney, Simple febrile ... ORPHA:464311
Severe Generalized Junctional Epidermolysis Bullosa
Renal cyst, Urinary retention, Aplasia/Hypoplasia of the bladder, Dysuria, Hydronephrosis, Ureter... ORPHA:79404
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Hepatomegaly, Aminoaciduria, Albuminuria, Seizure, Hyp... OMIM:214100
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Hypoplasia of penis, Renal dysplasia, Multiple renal cysts ORPHA:99776
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia, Seizure OMIM:300968
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Splenomegaly, Hepatomegaly OMIM:612541
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:618460
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Mckusick-Kaufman Syndrome
Hydroureter, Hydronephrosis, Vesicovaginal fistula, Polycystic kidney dysplasia OMIM:236700
15q26 overgrowth syndrome
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the kidney, Duplication of renal... DECIPHER:81
Baller-Gerold Syndrome
Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter, Vesicoureteral reflux ORPHA:1225
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Seizure, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Febrile seizure (within the ag... ORPHA:464306
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Musculocontractural Ehlers-Danlos Syndrome
Hydronephrosis, Horseshoe kidney, Nephrolithiasis, Functional abnormality of the bladder ORPHA:2953
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hydronephrosis, Duplicated collecting system, Seizure, Ureteropelvic junction obstruction OMIM:280000
Kabuki Syndrome
Crossed fused renal ectopia, Hydronephrosis, Hypoplasia of penis, Abnormal localization of kidney... ORPHA:2322
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Seizure, Hypospadias, Male urethral meatus stenosis ORPHA:464738
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Cockayne Syndrome Type 3
Unilateral renal agenesis, Urinary retention, Hydronephrosis, Renal hypoplasia, Splenomegaly, Hep... ORPHA:90324
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Renal cyst, Hydronephrosis, Splenomegaly, Duplication of renal pelvis, Hepatomeg... OMIM:312870
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Oeis Complex
Renal agenesis, Micropenis, Hydronephrosis, Bladder exstrophy, Vesicovaginal fistula, Duplicated ... OMIM:258040
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Hydronephrosis, Renal hypoplasia/aplasia OMIM:308050
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Cardiomegaly, Hepatomegaly OMIM:614921
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Seizure, Vesicoureteral reflux ORPHA:250989
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Koolen-De Vries Syndrome
Hydronephrosis, Seizure, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:610443
Teebi-Shaltout Syndrome
Hydronephrosis, Ureteral stenosis, Horseshoe kidney OMIM:272950
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Seizure, Splenomegaly OMIM:115150
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Enuresis, Seizure, Hypospadias ORPHA:96121
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal agenesis, Bladder diverticulum, Micropenis, Hydronephrosis, Urethral stenosis, Ureterocele,... OMIM:604292
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Seizure, Vesicoureteral reflux, Abnormality of bladder morphology ORPHA:453499
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Raine Syndrome
Hydronephrosis, Hydroureter OMIM:259775
Cousin Syndrome
Hydronephrosis OMIM:260660
Tarp Syndrome
Hydronephrosis, Horseshoe kidney, Seizure ORPHA:2886
Distal Monosomy 12Q
Ectopic kidney, Congenital hypertrophy of left ventricle, Micropenis, Hydronephrosis, Polycystic ... ORPHA:96149
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Micropenis, Hydronephrosis, Pelvic kidney, Vesicoureteral reflux OMIM:618653
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Seizure ORPHA:264450
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hydronephrosis, Abnormal renal collecting system morphology, Unilateral renal dyspla... ORPHA:280633
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Knobloch Syndrome 1
Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Myoclonic seizure,... OMIM:267750
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydronephrosis, Splenomegaly, Hepatomegaly, Hypoplasia of penis, Multicysti... ORPHA:373
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplas... OMIM:270400
Granulomatosis With Polyangiitis
Ureteral stenosis, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, Renal insufficiency, S... ORPHA:900
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Micropenis, Hydronephrosis, Hydroureter, Seizure, Hypospadias OMIM:269150
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome OMIM:601776
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Seizure, Hypospadias ORPHA:487796
Eec Syndrome
Hydronephrosis, Hypospadias, Renal hypoplasia/aplasia, Vesicoureteral reflux, Urethral atresia ORPHA:1896
Erdheim-Chester Disease
Dysuria, Hydronephrosis, Renal insufficiency ORPHA:35687
Nijmegen Breakage Syndrome
Hydronephrosis, Recurrent urinary tract infections OMIM:251260
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias OMIM:304120
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:444072
Floating-Harbor Syndrome
Renal agenesis, Renal cyst, Nephrocalcinosis, Hydronephrosis, Dilatation of the renal pelvis, Pol... ORPHA:2044
Dubowitz Syndrome
Hydronephrosis, Seizure, Hypospadias ORPHA:235
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Seizure ORPHA:3474
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Hydronephrosis, Hepatomeg... ORPHA:2785
Orofaciodigital Syndrome Type 1
Proteinuria, Hydronephrosis, Multicystic kidney dysplasia, Renal insufficiency, Seizure ORPHA:2750
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
White-Kernohan Syndrome
Hydronephrosis, Horseshoe kidney, Hydroureter OMIM:619426
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2636
Koolen-De Vries Syndrome Due To A Point Mutation
Fetal pyelectasis, Focal hemiclonic seizure, Renal duplication, Generalized-onset seizure, Hydron... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fetal pyelectasis, Focal hemiclonic seizure, Renal duplication, Generalized-onset seizure, Hydron... ORPHA:363958
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Schinzel-Giedion Syndrome
Renal cyst, Abnormality of the ureter, Nephrolithiasis, Micropenis, Hydronephrosis, Nephroblastom... ORPHA:798
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hydronephrosis, Hypospadias ORPHA:163979
Robinow Syndrome, Autosomal Recessive 1
Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal localization of kidne... ORPHA:818
Floating-Harbor Syndrome
Hydronephrosis, Nephrocalcinosis, Congenital posterior urethral valve, Hypospadias OMIM:136140
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Fryns Syndrome
Renal agenesis, Renal cyst, Ureteral duplication, Hydronephrosis, Seizure, Hypospadias OMIM:229850
Hardikar Syndrome
Pyelonephritis, Hepatosplenomegaly, Hydronephrosis, Splenomegaly, Hepatomegaly, Bladder exstrophy... OMIM:301068
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Seizure, Vesicoureteral reflux, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Seizure, Vesicoureteral reflux, Typical absence seizure ORPHA:352665
Opitz Gbbb Syndrome
Hydronephrosis, Hypospadias, Enlarged ovaries, Abnormality of the urinary system, Vesicoureteral ... ORPHA:2745
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal agenesis, Bladder diverticulum, Micropenis, Hydronephrosis, Ureterocele, Renal dysplasia, D... OMIM:129900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Renal agenesis, Chordee, Hydronephrosis, Enuresis, Hypospadias, Pelvic kidney, Ureteropelvic junc... OMIM:619522
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Hydronephrosis ORPHA:100077
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Seizure ORPHA:2308
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Monosomy 22Q13.3
Recurrent pyelonephritis, Hydronephrosis, Renal dysplasia, Seizure, Vesicoureteral reflux ORPHA:48652
Vater/Vacterl Association
Renal agenesis, Ectopic kidney, Hydronephrosis, Patent urachus, Renal dysplasia, Ureteropelvic ju... OMIM:192350
Apert Syndrome
Hydronephrosis OMIM:101200
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Facial Dysmorphism With Multiple Malformations
Hydronephrosis OMIM:227255
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis ORPHA:1507
Duodenal Neuroendocrine Tumor
Hydronephrosis ORPHA:100076
Robinow Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Webbed penis, Micropenis ORPHA:97360
Melnick-Needles Syndrome
Hydronephrosis, Ureteral stenosis OMIM:309350
Okamoto Syndrome
Unilateral renal hypoplasia, Hydronephrosis, Splenomegaly, Ureteropelvic junction obstruction, Ur... ORPHA:2729
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Seizure, Vesicoureteral reflux ORPHA:2363
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Nephrolithiasis, Hydronephrosis, Bilateral tonic-clonic seizure on awakening, Generalized tonic s... ORPHA:438213
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Dilatation of the bladder, Hydronephrosis, Dilatation of the renal pelvis, Right ven... OMIM:265380
Tetrasomy 9P
Horseshoe kidney, Micropenis, Hydronephrosis, Renal dysplasia, Recurrent urinary tract infections... ORPHA:3310
1P36 Deletion Syndrome
Renal cyst, Hydronephrosis, Abnormality of the kidney, Hypoplasia of penis, Seizure, Hypospadias ORPHA:1606
Campomelic Dysplasia
Hydronephrosis, Seizure OMIM:114290
Coffin-Siris Syndrome 1
Ectopic kidney, Hydronephrosis, Renal hypoplasia, Hydroureter, Seizure, Hypospadias OMIM:135900
Doors Syndrome
Nephrocalcinosis, Increased urine alpha-ketoglutarate concentration, Hydronephrosis, Abnormality ... ORPHA:79500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Nephrolithiasis, Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Abnormality of ... ORPHA:353281
Sotos Syndrome
Renal agenesis, Ureteral duplication, Hydronephrosis, Generalized myoclonic seizure, Hypospadias,... ORPHA:821
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, S... ORPHA:2273
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Seizure, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:363700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis, Hepatomegaly ORPHA:83617
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Digeorge Syndrome
Unilateral renal agenesis, Hydronephrosis, Splenomegaly, Renal dysplasia, Renal insufficiency, Se... OMIM:188400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal cyst, Hydronephrosis, Renal hypoplasia, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Charge Syndrome
Micropenis, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:138
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydronephrosis, Dilatation of the renal pelvis, Splenomegaly, Hepatomegaly, Hyperechogenic kidney... OMIM:619534
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:606170
Split Cord Malformation
Horseshoe kidney, Functional abnormality of the bladder, Renal duplication, Hydronephrosis, Detru... ORPHA:573278
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Micropenis, Hydronephrosis, Hypospadias, Vesicoureteral reflux OMIM:218649
Focal Dermal Hypoplasia
Hydronephrosis, Bifid ureter, Horseshoe kidney, Ureteral duplication OMIM:305600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Nephrolithiasis, Hydronephrosis, Abnormality of the kidney, Hypospadias, Recurrent urinary tract ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Nephrolithiasis, Hydronephrosis, Abnormality of the kidney, Hypospadias, Recurrent urinary tract ... ORPHA:353277
Peters Plus Syndrome
Ureteral duplication, Renal duplication, Hydronephrosis, Multicystic kidney dysplasia, Renal hypo... ORPHA:709
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:506358
Wiedemann-Rautenstrauch Syndrome
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Dilatation of renal calices, Wid... ORPHA:3455
Peters-Plus Syndrome
Ureteral duplication, Hydronephrosis, Renal hypoplasia, Seizure, Hypospadias OMIM:261540
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias OMIM:236680
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia, Seizure ORPHA:480880
Mowat-Wilson Syndrome
Atypical absence seizure, Chordee, Renal duplication, Micropenis, Hydronephrosis, Abnormality of ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Chordee, Renal duplication, Micropenis, Hydronephrosis, Hypospadias, Fo... ORPHA:261537
Charge Syndrome
Renal agenesis, Horseshoe kidney, Micropenis, Hydronephrosis, Renal hypoplasia OMIM:214800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Chordee, Renal duplication, Micropenis, Hydronephrosis, Hypospadias, Fo... ORPHA:261552
Johanson-Blizzard Syndrome
Micropenis, Hydronephrosis, Hypospadias, Urethrovaginal fistula OMIM:243800
Viss Syndrome
Hydronephrosis, Right ventricular hypertrophy OMIM:619472

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 Faim2

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 Faim2.

No publications found that use IMPC mice or data for Faim2.

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MGI Allele Allele Type Produced
Faim2em1(IMPC)Ccpcz Exon Deletion Mice
Faim2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Faim2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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