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Gene: Lifr MGI:96788

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Gene Summary

Name:
LIF receptor alpha
Synonyms:
soluble differentiation-stimulating factor receptor,  A230075M04Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Lifrtm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased exploration in new environment Lifrtm1b(EUCOMM)Hmgu HET Early adult 2.79×10-07
preweaning lethality, complete penetrance Lifrtm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Echo

M-Mode Images

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Lifr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Abnormal autonomic nervous system ... OMIM:601559
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Recurrent fr... ORPHA:3206

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism OMIM:219050
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Cryptorchidism, Hydronephrosis OMIM:224250
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... OMIM:236730
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Intrauterine growth retardation OMIM:274265
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis, Intrauterine growth retardation OMIM:617564
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... OMIM:617805
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Hydronephrosis OMIM:615996
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder ORPHA:2547
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Prune Belly Syndrome
Congenital posterior urethral valve, Hydroureter, Cryptorchidism, Hydronephrosis OMIM:100100
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Ambiguous genitalia, Bifid ureter, Renal dysplasia, Renal agenesis, Unilat... OMIM:617641
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hypoplastic male external genitalia, Hydronephrosis OMIM:247990
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, A... OMIM:137920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Image Syndrome
Hypogonadism, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis ORPHA:85173
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Microphallus, Cryptorchidism, Corpus cavernosum hypoplasia, Perineal hypospa... OMIM:615542
Nephronophthisis 13
Pancreatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepit... OMIM:614377
Bladder Exstrophy And Epispadias Complex
Bifid clitoris, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exs... OMIM:600057
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... ORPHA:2973
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Cry... ORPHA:85284
Bardet-Biedl Syndrome 12
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Hydronephrosis OMIM:615989
Noonan Syndrome 9
Hydroureter, Cryptorchidism OMIM:616559
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Neonatal death OMIM:236500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis OMIM:619362
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis OMIM:618845
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, C... ORPHA:1646
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... OMIM:614723
Caudal Duplication
Renal hypoplasia/aplasia, Cryptorchidism, Uterus didelphys, Ureteral duplication, Abnormal penis ... ORPHA:1756
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Wolfram Syndrome 1
Hydroureter, Testicular atrophy, Neurogenic bladder, Hydronephrosis OMIM:222300
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... OMIM:191800
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hyperechogenic ki... OMIM:617914
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Shawl scrotum ORPHA:2256
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis OMIM:617093
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis ORPHA:1046
Joubert Syndrome 22
Renal hypoplasia, Intrauterine growth retardation OMIM:615665
Matthew-Wood Syndrome
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Horseshoe k... ORPHA:2470
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Atresia Of Urethra
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... ORPHA:105
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Intrauterine gr... OMIM:616258
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Micropenis OMIM:264600
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Cryptorchidism, ... ORPHA:2704
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Penoscrotal Transposition
Renal dysplasia, Shawl scrotum, Penoscrotal transposition, Renal agenesis, Abnormality of the ure... ORPHA:2842
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia OMIM:601389
Cloacal Exstrophy
Vesicoureteral reflux, Abnormality of the clitoris, Abnormal fallopian tube morphology, Renal hyp... ORPHA:93929
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Intrauterine growth retardation, Abnormal localization of kidney, Hydro... ORPHA:195
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Cryptorchidism ORPHA:85274
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, External genital hypoplasia, Renal cyst, Cryptorchidism, Neonatal... OMIM:613390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia OMIM:615583
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Cryptorchidism, Megacystis ORPHA:2241
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Transverse vaginal septum, Hydro... OMIM:236700
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Cryptorchidism OMIM:618110
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid scrotum, Ambiguous gen... ORPHA:753
Nephrogenic Diabetes Insipidus
Hyposthenuria, Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the... ORPHA:223
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism OMIM:615982
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Intrauterine growth retardation, Hydronephrosis ORPHA:1745
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Vesicoureteral reflux, Pseudohypoparathyroidism, Cryptorchidism ORPHA:464288
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Penile Agenesis
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... ORPHA:49
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Cryptorchidism, Hydronephrosis ORPHA:568
Codas Syndrome
Hydroureter ORPHA:1458
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Ventriculomegaly With Defects Of The Radius And Kidney
Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication OMIM:602200
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimulation test, Intrauterine growth reta... OMIM:617784
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Absent vas defe... ORPHA:411709
Trisomy 1Q
Ambiguous genitalia, Multicystic kidney dysplasia, Congenital megaureter, Cryptorchidism, Small s... ORPHA:261344
Diabetic Embryopathy
Hydronephrosis, Abnormal morphology of female internal genitalia, Renal hypoplasia/aplasia, Crypt... ORPHA:1926
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis OMIM:618578
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Renal dysplasia, Decre... OMIM:146510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Renal agenesis, ... OMIM:258040
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubulointerstitial nephritis, Glome... OMIM:614376
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Fraser Syndrome 2
Aplasia of the bladder, Ambiguous genitalia, Renal agenesis, Renal hypoplasia OMIM:617666
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Caudal Regression Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Renal agenesis, Ectopic kidney, Abnormality of the ur... ORPHA:3027
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Hyperparathyroidism, Megacystis ORPHA:2604
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Pancreatic aplasia, Ureter... ORPHA:261265
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Ectopic kidney OMIM:212780
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Bicornuate uterus,... OMIM:300707
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Bifid scrotum, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal insu... ORPHA:85321
Silver-Russell Syndrome 1
Nephroblastoma, Decreased response to growth hormone stimulation test, Congenital posterior ureth... OMIM:180860
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Intrauterine growth retardation, Cryptorchidism OMIM:616817
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... ORPHA:2114
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hypoplastic nipples,... ORPHA:2437
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Hao-Fountain Syndrome
Micropenis, Cryptorchidism OMIM:616863
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cryptorchidism ORPHA:3055
3Q13 Microdeletion Syndrome
Abnormality of the urinary system, Hypoplasia of penis, Cryptorchidism ORPHA:1621
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Intraute... ORPHA:75389
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Cach Syndrome
Renal hypoplasia, Gonadal dysgenesis, Intrauterine growth retardation ORPHA:135
Posterior Urethral Valve
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... ORPHA:93110
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:3409
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Horseshoe kidney, R... OMIM:609053
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Cryptorchidism, Unilateral renal agenesis, Hydronephrosis OMIM:618494
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria, Cryptorchidism ORPHA:1307
Duplication Of Urethra
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... ORPHA:237
Carpenter Syndrome 1
Precocious puberty, External genital hypoplasia, Hydroureter, Cryptorchidism, Hydronephrosis OMIM:201000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Neph... OMIM:194072
Stankiewicz-Isidor Syndrome
Shawl scrotum, Pineal cyst, Hypospadias, Cryptorchidism, Micropenis, Ureteral duplication OMIM:617516
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Abnormality of the ... ORPHA:289
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Marden-Walker Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormality of the kidne... ORPHA:2461
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Bladder Exstrophy
Vesicoureteral reflux, Abnormality of the clitoris, Recurrent urinary tract infections, Hypoplasi... ORPHA:93930
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Tetraploidy
Renal hypoplasia/aplasia, Intrauterine growth retardation, Hydronephrosis ORPHA:3305
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis OMIM:278300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Neonatal death, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Renal hypoplasia, Renal insufficien... OMIM:617595
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... ORPHA:322
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Microphallus, Pelvi... OMIM:603467
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis OMIM:619797
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:146110
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the vagina, Hypoplasia of the bladder, Multicystic kidney dysplasi... OMIM:614527
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Cryptorchidism, Small scrotum, Intrauterine growth retardation, Hydronephrosis ORPHA:2083
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Webb-Dattani Syndrome
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Neurogenic bladder,... OMIM:615926
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis OMIM:619217
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Retinitis Pigmentosa 59
Renal insufficiency, Intrauterine growth retardation, Micropenis, Cryptorchidism OMIM:613861
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Renal dysplasia, Hy... OMIM:604292
46,Xy Sex Reversal 4
Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstru... OMIM:154230
Microphthalmia, Syndromic 9
Bicornuate uterus, Renal malrotation, Hypoplasia of the uterus, Horseshoe kidney, Pelvic kidney, ... OMIM:601186
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n... ORPHA:49041
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Marden-Walker Syndrome
Hypospadias, Micropenis, Cryptorchidism, Renal hypoplasia, Intrauterine growth retardation OMIM:248700
12Q14 Microdeletion Syndrome
Renal hypoplasia, Intrauterine growth retardation, Horseshoe kidney, Ectopic kidney ORPHA:94063
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Vesicoureteral reflux OMIM:617660
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism ORPHA:1166
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Cryptorchidism, Decreased response to growth ... OMIM:275400
Toluene Embryopathy
Cryptorchidism, Abnormal localization of kidney, Hydronephrosis ORPHA:1920
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Ureterocele, Ab... ORPHA:158684
Junctional Epidermolysis Bullosa With Pyloric Atresia
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... ORPHA:79403
Emanuel Syndrome
Recurrent urinary tract infections, Intrauterine growth retardation, Unilateral renal agenesis, C... OMIM:609029
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Renal hypoplasia/aplasia, Renal cyst, Abnormali... ORPHA:1834
Trisomy 13
Abnormal morphology of female internal genitalia, Intrauterine growth retardation, Abnormality of... ORPHA:3378
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Unilateral renal agenesis,... OMIM:609757
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis ORPHA:873
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Unilateral renal agenesis, Cryptorchidism, Renal insufficiency ORPHA:281090
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Renal dysplasia, Hy... OMIM:129900
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... ORPHA:79404
Acrofacial Dysostosis, Catania Type
Hypospadias, Intrauterine growth retardation, Cryptorchidism OMIM:101805
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis ORPHA:2995
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism OMIM:615633
Short Stature, Microcephaly, And Endocrine Dysfunction
Intrauterine growth retardation, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal... OMIM:616541
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Aredyld Syndrome
Abnormality of the ureter, Intrauterine growth retardation ORPHA:1133
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Senior-Boichis Syndrome
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... ORPHA:84081
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias OMIM:614091
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Intrauterine growth retardation, Micropenis, Cryptorchidism OMIM:612626
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Ureteral duplication OMIM:270420
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Immunoneurologic Disorder, X-Linked
Small for gestational age, Neonatal death OMIM:300076
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hypoplasia of penis, Stil... OMIM:617667
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Cryptorchidism OMIM:610759
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorch... OMIM:619194
Raine Syndrome
Hydroureter, Neonatal death, Hydronephrosis OMIM:259775
White-Kernohan Syndrome
Hydroureter, Rectovaginal fistula, Horseshoe kidney, Hydronephrosis OMIM:619426
Schinzel-Giedion Midface Retraction Syndrome
Bicornuate uterus, Hydroureter, Hypoplastic labia minora, Hypoplastic labia majora, Hypospadias, ... OMIM:269150
Stuve-Wiedemann Syndrome 2
Short long bone, Camptodactyly, Stillbirth, Death in adolescence, Thrombocytopenia, Neonatal deat... OMIM:619751
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:244200
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Diphallia
Renal duplication, Abnormal spermatogenesis, Bifid scrotum, Renal malrotation, Penoscrotal transp... ORPHA:227
Chand Syndrome
Hydroureter, Imperforate hymen ORPHA:1401
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858
Emanuel Syndrome
Hypogonadism, Intrauterine growth retardation, Unilateral renal agenesis, Cryptorchidism, Renal h... ORPHA:96170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ... ORPHA:2869
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Renal cyst, Intrauterine growth retardation, Renal hypoplasia, Ureteral du... OMIM:618460
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hydronephrosis ORPHA:531151
Congenital Myopathy 17
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:618975
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Abnormal... ORPHA:2311
Vacterl/Vater Association
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal morphology of female internal genital... ORPHA:887
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Congenital megaureter, Unilateral renal dysplasia, Hydroureter, Hydrocele testis, Hypertrophy of ... ORPHA:280633
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85282
Phakomatosis Pigmentokeratotica
Nephroblastoma, Precocious puberty, Pheochromocytoma, Cryptorchidism, Unilateral renal hypoplasia... ORPHA:2874
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Pseudotrisomy 13 Syndrome
Bicornuate uterus, Renal agenesis, Cryptorchidism, Renal hypoplasia, Micropenis OMIM:264480
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism ORPHA:2128
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... ORPHA:2237
Ulnar-Mammary Syndrome
Hypoplasia of penis, Breast aplasia, Abnormality of the uterus, Cryptorchidism, Renal hypoplasia,... ORPHA:3138
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Intrauterine growth retardati... OMIM:220210
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Crossed fused renal ectopia, Renal malrotation, Renal agenesis, Horseshoe ... OMIM:607323
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Cryptorchidism ORPHA:1381
Fanconi Anemia
Abnormal preputium morphology, Recurrent urinary tract infections, Renal hypoplasia/aplasia, Hydr... ORPHA:84
Cockayne Syndrome Type 3
Urinary retention, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia, ... ORPHA:90324
Vici Syndrome
Ureteral atresia, Renal tubular acidosis ORPHA:1493
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Hypospadias, Cryptorchidism, Ureteral duplication, Hydr... ORPHA:96169
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Nephrotic Syndrome, Type 14
Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacemen... OMIM:617575
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki... OMIM:208540
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Azoospermia, Male pseudohermaphroditism, Crypt... OMIM:312300
Distal Tetrasomy 15Q
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocele testis, Horsesh... ORPHA:314588
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Neonatal death, Urethral atresia, Hydronephrosis OMIM:314390
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism ORPHA:2377
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Endometrial carcinoma ORPHA:457212
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Microphallus, Supernumerary nipple, Renal cyst, Cryptorchidism, Renal hypo... OMIM:618454
Rauch-Steindl Syndrome
Hyperechogenic kidneys, Intrauterine growth retardation, Bilateral renal hypoplasia OMIM:619695
Micro Syndrome
Hypoplastic labia minora, Hypoplasia of penis, Clitoral hypoplasia, Abnormal localization of kidn... ORPHA:2510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Congenital megaureter, Renal dysplasia, Renal cyst, Hypoparathyroidism, Abnor... ORPHA:369837
Stt3B-Cdg
Intrauterine growth retardation, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Hydroureter, Hypoplasia of penis, Supernumerary nip... ORPHA:373
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis OMIM:617913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Intrauterine growth retardation, Cryptorchidism OMIM:616910
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypogonadism, Mic... OMIM:308750
Alagille Syndrome
Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter, Cryptorchidism, Intraute... ORPHA:52
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypopl... OMIM:601076
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Small scrotum, Micropenis, Cryptorchidism OMIM:615597
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cryptorchidism, Proteinuria, Nephrotic syndrome ORPHA:1192
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Absent nipple, Hydronephrosis OMIM:104350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Renal dysplasia, Bladder trabeculation, Hydrocele testis, Ureteral hypopla... OMIM:614080
Cardiac Valvular Dysplasia 1
Hydroureter, Urethral diverticulum, Hydronephrosis OMIM:212093
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Hypoplastic labia majora, Renal cyst, Reduced renal corticomedullary diffe... OMIM:122470
Suleiman-El-Hattab Syndrome
Cryptorchidism, Hydronephrosis OMIM:618950
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Unilateral renal atrophy, Pyelonephritis, Nephritis, Oligospermia, Cryptorchidism OMIM:314300
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Anterior hypopituitarism, Midshaft hypospadias, Cryptorchidism ORPHA:2863
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Micropenis, Cryptorchidism OMIM:301830
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, Hypospadias, Cryptorchidism, Renal insufficiency, Hyperu... OMIM:300661
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Renal cyst, Stillbirth, Cryptorchidism, Renal hypoplasia OMIM:616300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... OMIM:614732
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Dextrocardia
Pancreatic hypoplasia, Abnormality of the ureter, Abnormal reproductive system morphology, Abnorm... ORPHA:1666
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Micropenis, Cryptorchidism OMIM:614880
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypoplastic nipples, Micropenis OMIM:615546
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchidism, Glandul... ORPHA:456328
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Hypoplasia of penis, Intrauterine growth retardation, Cryptorchidism ORPHA:2772
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Wagr Syndrome
Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism ORPHA:893
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Micropenis, Cryptorchidism OMIM:618815
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Intrauterine growth retardation, Cryptorchidism OMIM:620135
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Breast aplasia, Du... ORPHA:2036
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, Cryptorchidism, A... ORPHA:2636
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Neonatal death, Death in infancy OMIM:242500
Peutz-Jeghers Syndrome
Ovarian cyst, Neoplasm of the pancreas, Abnormality of the ureter, Bladder polyp, Uterine neoplas... OMIM:175200
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Intrauterine growth retardation, Renal hypoplas... OMIM:614083
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:610628
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Cryptorchidism ORPHA:1703
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Azoospermia, Unilateral renal agenesis, Testicular atrophy, Cryptorchi... OMIM:308700
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Intrauterine growth retardation, Hypospadias, Duplicated collecting system... OMIM:301056
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal localization of kidney, Coronal hypospadias, Cryptorchidism ORPHA:921
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Ambiguous genitalia, Bifid scrotum, Renal agenesis, Hyp... ORPHA:83628
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Abnormality of the female genitalia, Intrauteri... ORPHA:2315
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Duplicated collecting system, Micropenis, Cryptorchidism OMIM:620071
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Hardikar Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter... OMIM:301068
Stt3A-Cdg
Small scrotum, Micropenis, Cryptorchidism ORPHA:370921
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias ORPHA:314679
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Bicornuate uterus, Hydroureter, Annular pancreas, Hypospadias, Dilatation of the ... OMIM:265380
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... OMIM:608836
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Trisomy 20P
Macroorchidism, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal... ORPHA:261318
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydrometrocolpo... ORPHA:2473
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormality of the ant... ORPHA:449395
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Chromosome 2P16.1-P15 Deletion Syndrome
Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Micrope... OMIM:612513
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism OMIM:612702
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology OMIM:611890
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Shawl scrotum OMIM:615433
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Intrauterine growth retardation, Horseshoe kidney, Hypoplastic male external genitalia, Cryptorch... ORPHA:502434
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Hydronephrosis ORPHA:364028
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Intrauterine g... ORPHA:1225
Alopecia-Intellectual Disability Syndrome 4
Hypospadias, Bilateral cryptorchidism, Micropenis OMIM:618840
Van Maldergem Syndrome 1
Renal hypoplasia, Hypospadias OMIM:601390
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Poland Syndrome
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Urete... ORPHA:2911
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Anterior pituitary hypoplasia, Small scrotum, Cryptorchidism ORPHA:264200
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Toriello-Lacassie-Droste Syndrome
Epispadias, Abnormality of the bladder, Abnormality of the ureter, Hypospadias, Abnormal penis mo... ORPHA:3339
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Cystic renal dysplasia, Hypoplastic nipples, Renal hypoplasia, Neonatal deat... OMIM:269860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Intrauterine growth retardation, Micropenis, Hydronephrosis OMIM:616897
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Male hypogonadism, Increased circulating gonadotropin level, Hypospadi... ORPHA:163971
Andersen-Tawil Syndrome
Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis ORPHA:457193
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Cryptorchidism OMIM:218350
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Ambiguous genitalia, Hypoplasia of penis, Cryptorchidism ORPHA:168593
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Small scrotum, Hypogonadism ORPHA:3253
Trisomy 17P
Polycystic kidney dysplasia, Hypoplasia of penis, Urethral stenosis, Urethral valve, Intrauterine... ORPHA:261290
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Precocious puberty, Abnormal localization of... ORPHA:819
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Cryptorchidism ORPHA:401935
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Small scrotum, Clitoral hypertrophy, Hydronephrosis ORPHA:85201
Mosaic Trisomy 8
Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis ORPHA:96061
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Renal agenesis, Hydronephrosis ORPHA:1297
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Micropenis, Renal hypoplasia, Intrauterine gr... OMIM:619321
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male, Unilatera... OMIM:300219
Tarp Syndrome
Intrauterine growth retardation, Horseshoe kidney, Hydronephrosis OMIM:311900
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Neonatal ... OMIM:194080
Igg4-Related Aortitis