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Gene: Lifr MGI:96788

Gene Summary

Name:

LIF receptor alpha

Synonyms:

soluble differentiation-stimulating factor receptor, A230075M04Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Lifr^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased exploration in new environment	Lifr^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.79×10^-07
abnormal brain morphology	Lifr^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00

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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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
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	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

16 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

21 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

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.

Human diseases associated with Lifr (2 diseases)
Human diseases predicted to be associated with Lifr (849 diseases)

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		Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, De...	OMIM:601559
Stüve-Wiedemann Syndrome		Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206

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

Disease	Matching phenotypes	Source
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism, Renal agenesis	OMIM:219050
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	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
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
7P22.1 Microduplication Syndrome	Cryptorchidism, Abnormality of the kidney	ORPHA:314034
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Intrauterine growth retardation, Nephroptosis, Bilateral cryptorchidism	OMIM:617564
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
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	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Prune Belly Syndrome	Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder	ORPHA:2547
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hydronephrosis, Hypoplastic male external genitalia	OMIM:247990
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Image Syndrome	Hypospadias, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Hydronephrosis	ORPHA:85173
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl...	OMIM:600057
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Neonatal ...	ORPHA:85284
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Noonan Syndrome 9	Cryptorchidism, Hydroureter	OMIM:616559
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis	OMIM:615996
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Intraute...	OMIM:617914
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Testicular atrophy, Hydronephrosis	OMIM:222300
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia	OMIM:600151
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus...	ORPHA:1756
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Intrau...	OMIM:616258
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum	ORPHA:2256
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Joubert Syndrome 22	Intrauterine growth retardation, Renal hypoplasia	OMIM:615665
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormali...	ORPHA:2470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Cat-Eye Syndrome	Intrauterine growth retardation, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasi...	ORPHA:195
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Abn...	ORPHA:93929
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Caudal Appendage-Deafness Syndrome	Cryptorchidism	ORPHA:1123
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis	ORPHA:171839
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis	ORPHA:85274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal...	OMIM:613390
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism	OMIM:274205
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Even-Plus Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia	OMIM:616854
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis	OMIM:264600
Distal Duplication 6P	Hydronephrosis, Intrauterine growth retardation, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V...	OMIM:236700
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism	ORPHA:464288
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis	ORPHA:568
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia	OMIM:617926
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Codas Syndrome	Hydroureter	ORPHA:1458
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Hao-Fountain Syndrome	Cryptorchidism, Micropenis	OMIM:616863
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, Hydronephrosis	OMIM:618578
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C...	ORPHA:3027
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Fanconi Anemia, Complementation Group W	Intrauterine growth retardation, Renal hypoplasia, Decreased response to growth hormone stimulati...	OMIM:617784
Pallister-Hall Syndrome	Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Decreased response t...	OMIM:146510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen...	ORPHA:261344
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Abnormal morphology o...	ORPHA:1926
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,...	ORPHA:2437
Familial Visceral Myopathy	Vesicoureteral reflux, Hyperparathyroidism, Hydroureter, Megacystis	ORPHA:2604
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Intrauterine growth retardation, Renal hypoplasia, Cryptorchidism	OMIM:616817
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal ...	ORPHA:85321
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ...	OMIM:300707
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Cach Syndrome	Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Primary amenorrhea, Gona...	ORPHA:135
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system	ORPHA:1621
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d...	OMIM:614922
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu...	ORPHA:75389
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Verheij Syndrome	Intrauterine growth retardation, Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Urban-Rogers-Meyer Syndrome	Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi...	OMIM:609053
Carpenter Syndrome 1	Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hydronephrosis	OMIM:201000
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis	OMIM:617516
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis	OMIM:202150
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Hydronephrosis	OMIM:619797
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Tetraploidy	Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasia, Micropha...	OMIM:603467
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia	ORPHA:254913
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, A...	ORPHA:93930
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec...	ORPHA:49041
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis	ORPHA:2083
Retinitis Pigmentosa 59	Cryptorchidism, Intrauterine growth retardation, Renal insufficiency, Micropenis	OMIM:613861
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis	OMIM:619217
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ...	OMIM:601186
12Q14 Microdeletion Syndrome	Intrauterine growth retardation, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, Renal hypoplasia, Intrauterine growth retardation, Micropenis	OMIM:248700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Decreased response to growth hormone stimulation test, Hydronephrosis, Unilateral...	OMIM:609757
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism	ORPHA:1074
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du...	OMIM:604292
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia	OMIM:617660
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ...	OMIM:609029
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism	ORPHA:2022
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Oliver-Mcfarlane Syndrome	Cryptorchidism, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth ...	OMIM:275400
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:250994
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis	OMIM:619185
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Cryptorchidism	OMIM:615633
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma	ORPHA:281090
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Polydactyly-Myopia Syndrome	Cryptorchidism	ORPHA:2917
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Acrofacial Dysostosis, Catania Type	Intrauterine growth retardation, Hypospadias, Cryptorchidism	OMIM:101805
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Micropenis	OMIM:300982
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo...	OMIM:154230
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Intrauterine growth ...	OMIM:616541
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Aredyld Syndrome	Intrauterine growth retardation, Abnormality of the ureter	ORPHA:1133
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du...	OMIM:129900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia	OMIM:618914
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Chromosome 15Q26-Qter Deletion Syndrome	Intrauterine growth retardation, Micropenis, Hypospadias, Cryptorchidism	OMIM:612626
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic...	OMIM:244200
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cryptorchidism, Hydroureter	OMIM:610759
White-Kernohan Syndrome	Hydroureter, Rectovaginal fistula, Hydronephrosis, Horseshoe kidney	OMIM:619426
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Renal duplication	OMIM:270420
Immunoneurologic Disorder, X-Linked	Neonatal death, Small for gestational age	OMIM:300076
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Bilateral renal age...	OMIM:619194
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Ureteral agenesis, Stillbirth, Bil...	OMIM:617667
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hypogonadism, Infertility, Intrauter...	ORPHA:96170
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intrauterine growth re...	OMIM:618460
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:531151
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Raine Syndrome	Neonatal death, Hydroureter, Hydronephrosis	OMIM:259775
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Hydronephrosis	OMIM:179613
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista...	ORPHA:227
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis, Cryptorchidism	OMIM:610733
Tetrasomy 15Q26	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Hydrocele testis, Co...	ORPHA:280633
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Cryptorchidism, Micropenis, Hypogonadism, Decreased response to growth hormone stimulation test	ORPHA:3363
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia	OMIM:618975
Chand Syndrome	Hydroureter, Imperforate hymen	ORPHA:1401
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, 3-Methylglutaric aciduria	OMIM:250951
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Abnormality of the ureter, Intrauterine growth retardation, Abnormal...	ORPHA:2311
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi...	ORPHA:2874
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr...	OMIM:269150
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car...	ORPHA:2869
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism	ORPHA:1568
Pseudotrisomy 13 Syndrome	Renal agenesis, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis	OMIM:264480
Mehmo Syndrome	Cryptorchidism, Hypoplasia of penis, External genital hypoplasia, Micropenis	ORPHA:85282
Isolated Hemihyperplasia	Cryptorchidism, Nephroblastoma	ORPHA:2128
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Decreased fertility, Renal hypoplasia, Breast aplasia, Abnor...	ORPHA:3138
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis, Cryptorchidism	OMIM:620327
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu...	ORPHA:84
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size	ORPHA:85287
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydronephrosis, Decreased response to growth hormon...	OMIM:220210
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias	ORPHA:1381
Vici Syndrome	Renal tubular acidosis, Ureteral atresia	ORPHA:1493
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal d...	ORPHA:96169
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe...	ORPHA:314588
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
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	Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ...	OMIM:618454
Rauch-Steindl Syndrome	Intrauterine growth retardation, Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ...	OMIM:308750
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality...	ORPHA:369837
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism	ORPHA:1192
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydrocele test...	OMIM:614080
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Stage 5 chronic kidney disease, Urete...	OMIM:208540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Hypospadias, Cryptorchidism	OMIM:616910
Alagille Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Intraute...	ORPHA:52
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
Stt3B-Cdg	Intrauterine growth retardation, Micropenis, Small scrotum, Cryptorchidism	ORPHA:370924
Intellectual Disability, Wolff Type	Cryptorchidism, Hypospadias	ORPHA:3080
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis, Absent nipple	OMIM:104350
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Suleiman-El-Hattab Syndrome	Cryptorchidism, Hydronephrosis	OMIM:618950
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Congenital Disorder Of Glycosylation, Type Ix	Intrauterine growth retardation, Micropenis, Small scrotum, Cryptorchidism	OMIM:615597
Trisomy 4P	Cryptorchidism, Hypospadias	ORPHA:1738
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:301830
Short Stature-Wormian Bones-Dextrocardia Syndrome	Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Renal hypoplasia/aplasia	ORPHA:2863
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Micropenis, Hypoplasia of the prostate	OMIM:301900
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Uric acid nephro...	OMIM:300661
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul...	OMIM:610628
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuri...	OMIM:614732
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Ventral shortening of foreskin, Cryptorchidism, Urethral diverticulum, Displacemen...	ORPHA:95706
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Hypospadias, Cryptorchidism	OMIM:620135
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Ambiguous genitalia	OMIM:616300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Hypospadias	OMIM:618815
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:1762
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypoplastic nipples, Micropenis	OMIM:615546
Autosomal Recessive Amelia	Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:1027
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias	OMIM:618840
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A...	ORPHA:2636
Mosaic Trisomy 14	Cryptorchidism, Hypoplasia of penis, Hypospadias	ORPHA:1703
Birk-Aharoni Syndrome	Duplicated collecting system, Cryptorchidism, Micropenis	OMIM:620071
Intellectual Developmental Disorder, X-Linked 106	Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:300997
Wagr Syndrome	Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism	ORPHA:893
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Intrauterine growth retardation, Hypoplasia of penis, Cryptorchidism	ORPHA:2772
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Dextrocardia	Pancreatic hypoplasia, Abnormal renal morphology, Abnormality of the ureter, Abnormal reproductiv...	ORPHA:1666
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious pube...	OMIM:175200
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Failure to thrive	OMIM:242500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Intrauterine gr...	OMIM:301056
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia...	ORPHA:456328
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Intrauterine growth retardati...	OMIM:614083
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Intrauterine...	ORPHA:261290
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Micropenis	OMIM:619180
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Abruzzo-Erickson Syndrome	Coronal hypospadias, Hypospadias, Abnormal localization of kidney, Cryptorchidism	ORPHA:921
Non-Distal Duplication 10Q	Cryptorchidism, Abnormality of the urinary system	ORPHA:1695
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:364028
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol...	OMIM:608836
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro...	ORPHA:2473
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis	OMIM:612702
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia	ORPHA:314679
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Chromosome 2P16.1-P15 Deletion Syndrome	Cryptorchidism, Hydronephrosis, Hypogonadism, Intrauterine growth retardation, Micropenis, Decrea...	OMIM:612513
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Baller-Gerold Syndrome	Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux, Intrauterine g...	ORPHA:1225
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death	OMIM:611890
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u...	OMIM:265380
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Abnormal vagina morphology, Intrauterine growth retardation, Ab...	ORPHA:2315
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Intrauterine growth retardation, Hypoplastic male external genitalia, Horseshoe kidney, Cryptorch...	ORPHA:502434
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Fetal Minoxidil Syndrome	Cryptorchidism	ORPHA:1918
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia	OMIM:601390
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Poland Syndrome	Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl...	ORPHA:2911
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hypospadias, Horseshoe kidney	OMIM:218350
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis	OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:457193
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia	ORPHA:37553
Kury-Isidor Syndrome	Hydronephrosis	OMIM:619762
Smith-Magenis Syndrome	Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/...	ORPHA:819
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism	ORPHA:3306
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Small scrotum, Renal hypoplasia, Anterior pituitary hypoplasia	ORPHA:264200
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Renal hypoplasia, Hypoplastic nipples, Neonatal death, Intrauterine growth r...	OMIM:269860
14Q24.1Q24.3 Microdeletion Syndrome	Cryptorchidism, Ectopic kidney	ORPHA:401935
Branchio-Oculo-Facial Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mosaic Trisomy 8	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Decreased testicular size	ORPHA:96061
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, Cryptorchidism	OMIM:617557
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum	OMIM:615433
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:85201
3-Methylglutaconic Aciduria, Type V	Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Intrauterine...	OMIM:610198
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:616030
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, Micropenis, Decreased...	OMIM:619321
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus...	OMIM:135900
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:168593
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614897
Acrocallosal Syndrome	Cryptorchidism, Hypospadias	ORPHA:36
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:912
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hypogonadism, Small scrotum, Abnormality of the ureter	ORPHA:3253
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm	OMIM:308100
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Fetal megacystis, Cryptorchidism	ORPHA:73246
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cryptorchidism, Abnormal pancreas morphology, Nephrolithiasis, Hypercalciur...	ORPHA:116
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Zaki Syndrome	Renal agenesis, Hydronephrosis	OMIM:619648
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Distal Deletion 10P	Intrauterine growth retardation, Hypoplasia of penis, Polycystic ovaries, Cryptorchidism	ORPHA:1580
Li-Campeau Syndrome	Cryptorchidism, Micropenis	OMIM:619189
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena...	ORPHA:261494
8p23.1 deletion syndrome	Cryptorchidism	DECIPHER:39
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Intrauterine growth retardation	OMIM:270100
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abn...	ORPHA:99776
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve...	OMIM:608800
Autosomal Dominant Omodysplasia	Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia	ORPHA:93328
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Perlman Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormal pancreas morphology, Nephroblastoma	ORPHA:2849
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Abnormality of the uterus...	ORPHA:1655
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Hydronephrosis, Cryptorchidism	ORPHA:250989
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Bifid scrotum, Small scrotum, H...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Intrauterine growth ...	OMIM:611209
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Hydronephrosis	OMIM:617798
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, H...	ORPHA:2273
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Cryptorchidism, Micropenis	OMIM:614684
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Abnormality of the kidney, Cryptorchidism, 3-Methylglutaconic aciduria, Intrauterine...	ORPHA:1194
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis	ORPHA:541423
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy...	ORPHA:2075
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl...	ORPHA:2059
Cardiocranial Syndrome, Pfeiffer Type	Intrauterine growth retardation, Micropenis, Hypospadias, Cryptorchidism	ORPHA:2872
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Harrod Syndrome	Intrauterine growth retardation, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism	ORPHA:2115
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis	OMIM:619179
Tarp Syndrome	Neonatal death, Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney	OMIM:311900
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the ...	ORPHA:96092
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde...	OMIM:200980
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Micropenis, Hydronephrosis, Pancreatic lymphangiectasis	OMIM:235255
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Intrauterine growth retardation, Hydronephrosis	OMIM:617093
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Renal hypoplasia, Cryptorchidism	OMIM:620005
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp...	OMIM:229850
Thakker-Donnai Syndrome	Intrauterine growth retardation, Rectovaginal fistula, Hydronephrosis	ORPHA:1780
Kinsship Syndrome	Renal hypoplasia, Horseshoe kidney	OMIM:619297
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Abnormality of the kidney	ORPHA:466926
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
15Q Overgrowth Syndrome	Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda...	ORPHA:314585
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, Abnormality of the ...	ORPHA:847
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydroneph...	OMIM:618653
Teebi-Shaltout Syndrome	Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Syndromic Diarrhea	Intrauterine growth retardation, Hypoplasia of the thymus, Renal hypoplasia, Polycystic kidney dy...	ORPHA:84064
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Takenouchi-Kosaki Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias	ORPHA:1358
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	OMIM:235510
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality...	ORPHA:857
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Cat Eye Syndrome	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney	OMIM:115470
3C Syndrome	Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:7
Fanconi Anemia, Complementation Group P	Cryptorchidism, Pelvic kidney, Horseshoe kidney	OMIM:613951
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney	ORPHA:508498
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Intrauterine gr...	ORPHA:261349
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:612370
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:444072
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Pa...	ORPHA:564
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Horseshoe kidney, Vesicoureteral...	OMIM:619103
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Cryptorchidism, Vesicoureteral reflux, Intrauterine growth re...	OMIM:610443
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Musculocontractural Ehlers-Danlos Syndrome	Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydrone...	ORPHA:2953
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Distal Monosomy 7Q36	Cryptorchidism, Hypoplasia of penis	ORPHA:1636
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, Vesicoureteral reflux, Micropenis	OMIM:619951
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis	OMIM:300712
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Acrodysostosis 2 With Or Without Hormone Resistance	Intrauterine growth retardation, Hypospadias, Cryptorchidism	OMIM:614613
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis, Hydronephrosis	OMIM:301040
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Intrauterine growth ret...	ORPHA:2728
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi...	ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Micropenis	OMIM:613156
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Hydronephrosis	ORPHA:2839
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Cryptorchidism, Micropenis	OMIM:612447
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re...	ORPHA:2052
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Distal Duplication 18Q	Cryptorchidism, Hypoplasia of penis, Abnormality of female external genitalia	ORPHA:1716
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples	OMIM:616001
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract...	ORPHA:163976
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Vesicoureteral reflux, Intrauterine growth retardation, Abnormal bladder morpholo...	ORPHA:453499
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, Hypospadias, Renal dysplasia	OMIM:300004
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Hypospadias, Cryptorchidism	ORPHA:494344
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus...	ORPHA:93271
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:147950
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re...	ORPHA:3404
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Abnormal salivary gla...	ORPHA:2363
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu...	ORPHA:397590
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Hydronephrosis	ORPHA:254528
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosi...	OMIM:214100
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Microphallus	OMIM:300957
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Breast hyp...	ORPHA:464306
2Q23.1 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis	ORPHA:228402
Fraser Syndrome 1	Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micro...	OMIM:219000
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Renal hypoplasia, Multiple renal cysts, Abnormal...	ORPHA:567
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size	ORPHA:127
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis	ORPHA:140
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidism, Oligozoosp...	OMIM:300200
Alg9-Cdg	Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Hypop...	ORPHA:79328
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull...	OMIM:619488
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Intrauterine growth retardation, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:619761
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
3Mc Syndrome 3	Bifid scrotum, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospadias	OMIM:248340
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Hydronephrosis	OMIM:619269
X-Linked Lissencephaly With Abnormal Genitalia	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:452
Ruvalcaba Syndrome	Hematuria, Intrauterine growth retardation, Abnormal localization of kidney, Cryptorchidism	ORPHA:3121
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Hydronephrosis	ORPHA:210122
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Intrauterine growth retardation, Renal cyst, Horseshoe kidney	ORPHA:166035
Knobloch Syndrome	Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary	ORPHA:95496
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Congenital Disorder Of Glycosylation, Type Iie	Intrauterine growth retardation, Neurogenic bladder, Hydronephrosis	OMIM:608779
Tarp Syndrome	Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney, Cryptorchidism	ORPHA:2886
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves...	OMIM:616580
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Supernumerary nipple	ORPHA:247262
Skin Creases, Congenital Symmetric Circumferential, 2	Cryptorchidism, Small scrotum, Hypospadias, Ureterocele	OMIM:616734
Renpenning Syndrome 1	Decreased testicular size, Hypospadias, Renal hypoplasia, Phimosis	OMIM:309500
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia	OMIM:309800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Hydronephrosis, Mild intrauterine growth retardation, Stillbirth, Thyr...	OMIM:308050
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Abnormality of the urinary system, ...	ORPHA:2745
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux...	OMIM:309580
Bdv Syndrome	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:619326
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, ...	ORPHA:478
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Proximal renal tubular acidosis, Cryptorchidism	OMIM:615824
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicour...	OMIM:617159
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Unilateral breast hypoplasia, Hydronephrosis	OMIM:300968
Trisomy 18	Abnormality of the upper urinary tract, Cryptorchidism, Intrauterine growth retardation, Abnormal...	ORPHA:3380
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Intrauterine growth retardation, Recurrent urinary tract infections, Renal hypoplasia, Pseudohypo...	OMIM:617157
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism	OMIM:300659
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Cryptorchidism, Renal salt wasting	OMIM:614736
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism...	OMIM:261540
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Imperforat...	OMIM:619522
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cryptorchidism, Aminoaciduria	OMIM:249270
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:600901
Early Infantile Epileptic Encephalopathy	Precocious puberty, Micropenis, Renal dysplasia, Ureterocele	ORPHA:1934
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ure...	ORPHA:1896
Recessive X-Linked Ichthyosis	Cryptorchidism	ORPHA:461
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Intrauterin...	OMIM:214110
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi...	ORPHA:2729
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Renal hypoplasia	OMIM:105650
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney	ORPHA:3429
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Intrauteri...	OMIM:210710
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Pancreatic cysts, Dilatation of the renal pelvis, Horses...	OMIM:274000
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased testicular size	OMIM:300869
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ...	OMIM:130650
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in individual wi...	ORPHA:90791
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, Hypospadias	ORPHA:98791
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Cryptorchidism, Ambiguous...	OMIM:249000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Prostatitis, Hydr...	ORPHA:900
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Seckel Syndrome 5	Cryptorchidism, Hypospadias, Clitoral hypertrophy	OMIM:613823
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria	ORPHA:35687
Melnick-Needles Syndrome	Stillbirth, Ureteral stenosis, Hydronephrosis	OMIM:309350
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Annular pancreas, Polycystic kidney...	ORPHA:96149
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:163979
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis	OMIM:614921
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Omodysplasia 2	Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi...	OMIM:164745
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Williams-Beuren Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urethral stenosis, Abnormal renal morpho...	OMIM:194050
49,Xxxxy Syndrome	Decreased testicular size, Hypoplasia of penis, Small scrotum, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:96264
Cousin Syndrome	Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis	OMIM:260660
Warburg Micro Syndrome 4	Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size	OMIM:615663
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ...	ORPHA:264450
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Intrauterine growth retard...	ORPHA:3376
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Cryptorchidism, Hypospadias	ORPHA:435938
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Ureteral obstruction	OMIM:304150
Short Stature-Micrognathia Syndrome	Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Penoscrotal hypospadias	OMIM:617164
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Aplasia/Hypoplasia of the fallo...	ORPHA:96121
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, External genital hypoplasia, Unilateral renal age...	ORPHA:141099
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Intrauterine growth retardation, Urethral stenosis, Cryptorchidism	OMIM:613990
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Cryptorchidism, Urachus fistula, Hypoplasia of the thymus, Hy...	OMIM:612541
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Williams Syndrome	Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref...	ORPHA:904
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ...	ORPHA:96147
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:227645
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ...	ORPHA:3097
Neurofaciodigitorenal Syndrome	Intrauterine growth retardation, Unilateral renal agenesis, Cryptorchidism	ORPHA:2673
48,Xxxy Syndrome	Decreased testicular size, Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypog...	ORPHA:96263
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Abnormality of female external genitalia, Cryptorchidism, Intrau...	ORPHA:235
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydronephrosis	ORPHA:1340
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal...	ORPHA:813
Charge Syndrome	Hypoparathyroidism, Renal agenesis, Hypogonadotropic hypogonadism, Decreased response to growth h...	OMIM:214800
Opitz Gbbb Syndrome	Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour...	OMIM:300000
Nijmegen Breakage Syndrome	Intrauterine growth retardation, Recurrent urinary tract infections, Premature ovarian insufficie...	OMIM:251260
Ohdo Syndrome	Cryptorchidism, Small scrotum, Proteinuria	OMIM:249620
Robinow Syndrome, Autosomal Recessive 1	Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Clitoral hypoplasia,...	OMIM:268310
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias	OMIM:606851
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Intrauterine growth retardation	ORPHA:217346
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Glycosuria, Intrauterine growth retardation, Pancreatic...	OMIM:600001
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction	ORPHA:1826
Intellectual Developmental Disorder, Autosomal Recessive 65	Cryptorchidism, Hypospadias, Supernumerary nipple	OMIM:618109
Oculoskeletodental Syndrome	Cryptorchidism, Mucopolysacchariduria, Renal agenesis, Hypercalciuria	OMIM:618440
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Breast hypoplasia, Intraut...	ORPHA:506358
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul...	ORPHA:293967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Orofaciodigital Syndrome Xiv	Unilateral renal hypoplasia, Epispadias, Micropenis, Cryptorchidism	OMIM:615948
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Precocious puberty, Macroorchidism	OMIM:619950
Kapur-Toriello Syndrome	Cryptorchidism, Hypoplastic labia majora, Abnormality of the urinary system, Intrauterine growth ...	OMIM:244300
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Micropenis, Decreased te...	ORPHA:2326
Chromosome 18P Deletion Syndrome	Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size	OMIM:146390
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi...	ORPHA:90793
Apert Syndrome	Cryptorchidism, Vaginal atresia, Hydronephrosis	OMIM:101200
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Abnormality of the kidney, Unilateral renal agenesis, Bilateral rena...	ORPHA:508488
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ...	ORPHA:2044
Crane-Heise Syndrome	Intrauterine growth retardation, Hypoplasia of penis, Cryptorchidism	ORPHA:1512
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction	ORPHA:160
Schwartz-Jampel Syndrome	Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Testicular torsion...	ORPHA:800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias	ORPHA:77298
Multiple Benign Circumferential Skin Creases On Limbs	Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias	ORPHA:2505
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mi...	OMIM:300519
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Cryptorchidism, Micropenis, Small scrotum, Microphallus	OMIM:300486
Kleefstra Syndrome 1	Cryptorchidism, Micropenis, Abnormal renal morphology, Hypospadias	OMIM:610253
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cryptorchidism, Abnormality of the urinary system, Ureteral stenosis	ORPHA:2719
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c...	OMIM:257300
Robinow Syndrome	Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla...	ORPHA:97360
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Aplasia/Hypoplasia of the gallbladder, Intrauterine growth retardation, Pan...	ORPHA:2255
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Severe intrauterine growth...	OMIM:241410
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Anterior hypopituitarism	OMIM:607932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127
Chromosome 15Q25 Deletion Syndrome	Intrauterine growth retardation, Dilatation of renal calices, Cryptorchidism	OMIM:614294
Buratti-Harel Syndrome	Cryptorchidism, Hypospadias	OMIM:619314
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, ...	OMIM:617053
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Stillbirth, Neonatal death, Intrauterine growth retardation	OMIM:275210
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Hydrocele testis, Hypoplastic nipples, Ureteropelvic junction obstr...	OMIM:280000
3Mc Syndrome 1	Hydronephrosis, Supernumerary nipple	OMIM:257920
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis	ORPHA:3134
Microphthalmia, Syndromic 5	Cryptorchidism, Micropenis, Ectopic posterior pituitary	OMIM:610125
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Cardiofaciocutaneous Syndrome 1	Hydronephrosis	OMIM:115150
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hypospadias	OMIM:601499
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Elevated circulating luteinizing hormone lev...	ORPHA:90796
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism	OMIM:601794
Acrofacial Dysostosis, Catania Type	Intrauterine growth retardation, Hypospadias, Cryptorchidism	ORPHA:1786
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptorchidism, Testi...	ORPHA:361
Jacobsen Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Intrauterine growth retardation, Annular pancreas, ...	ORPHA:2308
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Hydronephrosis, Multiple bladder diverticula	OMIM:613177
Lig4 Syndrome	Cryptorchidism, Micropenis, Amenorrhea	OMIM:606593
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr...	ORPHA:398079
Hatipoglu Immunodeficiency Syndrome	Intrauterine growth retardation, Hypospadias, Cryptorchidism	OMIM:620331
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe...	ORPHA:1507
Chops Syndrome	Vesicoureteral reflux, Cryptorchidism, Horseshoe kidney	OMIM:616368
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Micropenis, Supernumerary nipple	ORPHA:2519
Cog5-Cdg	Neurogenic bladder, Urinary incontinence, Cryptorchidism, Intrauterine growth retardation, Microp...	ORPHA:263487
Monosomy 22Q13.3	Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis	ORPHA:48652
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst...	ORPHA:798
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Severe intrauterine growth retardation, ...	ORPHA:2323
Focal Dermal Hypoplasia	Ureteral duplication, Supernumerary nipple, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia...	OMIM:305600
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Horseshoe kidney, Labial hypoplasia...	ORPHA:138
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Decreased response to growth hormone stimulation...	ORPHA:363958
Trisomy 8Q	Displacement of the urethral meatus, Hypoplasia of penis, Cryptorchidism	ORPHA:1752
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Warburg Micro Syndrome 2	Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum	OMIM:614225
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Biliary hyperplasia, Cryptorchidism, Intrauterine growth retardation, Micropenis, Pancreatic hypo...	ORPHA:83617
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Supernumerary nipple	ORPHA:352665
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Lig4 Syndrome	Cryptorchidism, Hypoplasia of penis	ORPHA:99812
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:168558
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Irregular menstruation, Hypogonadism, Intrauterine gro...	OMIM:101800
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post...	OMIM:136140
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism	ORPHA:1338
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Secondary hyperparathyr...	ORPHA:2785
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Horsesho...	ORPHA:3310
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,...	OMIM:236680
C Syndrome	Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts	OMIM:211750
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:227646
Meier-Gorlin Syndrome 5	Intrauterine growth retardation, Micropenis, Cryptorchidism	OMIM:613805
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:289548
Distal Duplication 17Q	Vesicoureteral reflux, Cryptorchidism, Renal duplication	ORPHA:3379
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypospadias, Hypogonadotropic hypogonadism	OMIM:619718
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Neonatal death, Intrauterine growth ret...	OMIM:614052
Kabuki Syndrome 1	Crossed fused renal ectopia, Premature thelarche, Cryptorchidism, Micropenis, Anoperineal fistula...	OMIM:147920
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Hypoplasia of penis, Anterior pituitary hypoplasia	ORPHA:3157
3Mc Syndrome 2	Cryptorchidism, Hypospadias, Horseshoe kidney	OMIM:265050
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Postaxial Acrofacial Dysostosis	Cryptorchidism, Micropenis, Abnormality of the kidney, Supernumerary nipple	OMIM:263750
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Hypospadias	OMIM:603736
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Ring Chromosome 12 Syndrome	Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, Breast hypoplasia	ORPHA:1439
Mosaic Trisomy 20	Intrauterine growth retardation, Abnormality of the kidney, Horseshoe kidney, Cryptorchidism	ORPHA:1724
Restrictive Dermopathy	Aplasia/Hypoplastia of the eccrine sweat glands, Ureteral duplication, Hypospadias, Intrauterine ...	ORPHA:1662
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Nephrolithiasis, Abnormality of ...	ORPHA:353281
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal localization...	ORPHA:2166
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis	OMIM:312830
Miller-Dieker Lissencephaly Syndrome	Intrauterine growth retardation, Pelvic kidney, Cryptorchidism	OMIM:247200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr...	ORPHA:95699
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Intrauterine growth retar...	ORPHA:2282
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism	ORPHA:251066
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, Penile hyposp...	OMIM:620083
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Unilateral renal agenesis, Cryptorchidism...	OMIM:620305
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Hydronephrosis, Cryptorchidism	OMIM:601776
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl...	OMIM:606170
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogona...	ORPHA:1606
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Nephroblastoma	OMIM:267000
Robinow Syndrome, Autosomal Dominant 1	Cryptorchidism, Hypoplastic labia majora, Clitoral hypoplasia, Micropenis, Hydronephrosis, Renal ...	OMIM:180700
Acrocardiofacial Syndrome	Intrauterine growth retardation, Hypoplasia of penis, Hypospadias, Cryptorchidism	ORPHA:2008
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Neph...	ORPHA:438213
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Intrauterine growth retardation, Recurrent urinary tract infections, Hy...	OMIM:616268
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Noonan Syndrome With Multiple Lentigines	Hypospadias, Cryptorchidism, Decreased fertility, Abnormal localization of kidney, Intrauterine g...	ORPHA:500
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Intrauterine growth retarda...	OMIM:613803
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Parathyroid hypoplasia, Hyd...	OMIM:188400
Aniridia-Absent Patella Syndrome	Cryptorchidism	ORPHA:1069
Meier-Gorlin Syndrome 7	Urethral stricture, Hypospadias, Cryptorchidism, Breast aplasia, Vesicoureteral reflux, Micropeni...	OMIM:617063
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary...	OMIM:151100
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Cryptorchidism	OMIM:225500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cryptorchidism, Nephr...	ORPHA:353277
Vacterl With Hydrocephalus	Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal fallopian tube morphology, Int...	ORPHA:3412
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum	OMIM:600460
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Diarrhea 10, Protein-Losing Enteropathy Type	Renal dysplasia, Cryptorchidism, Polyuria	OMIM:618183
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Intrauterine growth retardation, ...	OMIM:616975
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, De...	OMIM:601559
Rubinstein-Taybi Syndrome 1	Hypospadias, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Papillary cystadenoma...	OMIM:180849
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia	ORPHA:2250
Campomelic Dysplasia	Sex reversal, Hypospadias, Hydronephrosis	OMIM:114290
Cardiac-Urogenital Syndrome	Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus...	OMIM:618280
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Hypogonadotropic hypogonadism, Decreased respons...	ORPHA:3455
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Nephrocalcinosis, Abnorma...	ORPHA:79500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:363700
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplastic labia minora, Hypoplast...	ORPHA:2554
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen...	ORPHA:495875
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Hypospadias, Biliary hyperplasia, Hydrocele testis, Aminoacid...	OMIM:619991
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, Horseshoe kidney, Intrauterine growth r...	OMIM:305000
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Stillbirth, Hypospadias, Hydronephrosis	OMIM:304120
Phocomelia, Schinzel Type	Intrauterine growth retardation, Hypoplasia of penis, Aplasia of the uterus, Cryptorchidism	ORPHA:2879
Roberts Syndrome	Cryptorchidism, Long penis, Severe intrauterine growth retardation, Polycystic kidney dysplasia, ...	ORPHA:3103
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Intra...	ORPHA:1596
Specc1L-Related Hypertelorism Syndrome	Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum, Ectopic kidney	ORPHA:1519
Mend Syndrome	Cryptorchidism, Crossed fused renal ectopia	OMIM:300960
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplastic labia...	OMIM:603457
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Nephr...	OMIM:312870
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovaginal fistula, Severe...	OMIM:243800
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac...	ORPHA:276244
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Hydronephrosis	OMIM:620330
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G...	OMIM:618820
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Microphthalmia, Syndromic 3	Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Cryptorchidism, Microp...	OMIM:206900
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma...	OMIM:134780
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ...	ORPHA:1308
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C...	ORPHA:261537
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Dilatation of the renal pelvis, S...	OMIM:619534
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th...	ORPHA:2152
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Cyst of the ductus choledochus, Hypoplastic nipples, Hydronephrosis	ORPHA:480880
Hartsfield Syndrome	Cryptorchidism, Micropenis, Hypospadias, Gonadotropin deficiency	OMIM:615465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C...	ORPHA:261552
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the ute...	ORPHA:672
Diets-Jongmans Syndrome	Cryptorchidism, Hypospadias	OMIM:618846
Glycerol Kinase Deficiency	Cryptorchidism, Increased urinary glycerol	OMIM:307030
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ...	OMIM:201750
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Japanese Encephalitis	Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord	ORPHA:79139
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Stillbirth, Bic...	OMIM:268300
Viss Syndrome	Hydronephrosis	OMIM:619472
Tibial Hemimelia	Ambiguous genitalia, Cryptorchidism, Hypospadias	ORPHA:93322

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 Lifr

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 Lifr.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Leukemia inhibitory factor suppresses hepatic de novo lipogenesis and induces cachexia in mice.	Nature communications (January 2024)	Lifr^{tm1c(EUCOMM)Hmgu}	PMC10799847
Epithelial LIF signaling limits apoptosis and lung injury during bacterial pneumonia.	American journal of physiology. Lung cellular and molecular physiology (February 2022)	Lifr^{tm1a(EUCOMM)Hmgu}	35137631
gp130/STAT3 signaling is required for homeostatic proliferation and anabolism in postnatal growth plate and articular chondrocytes.	Communications biology (January 2022)	Lifr^{tm1c(EUCOMM)Hmgu}	35039652
Leukemia inhibitory factor-receptor signalling negatively regulates gonadotrophin-stimulated testosterone production in mouse Leydig Cells.	Molecular and cellular endocrinology (January 2022)	Lifr^{tm1c(EUCOMM)Hmgu}	35031431
Uterine Epithelial LIF Receptors Contribute to Implantation Chamber Formation in Blastocyst Attachment.	Endocrinology (November 2021)	Lifr^{tm1a(EUCOMM)Hmgu}	34402888
LIFR-α-dependent adipocyte signaling in obesity limits adipose expansion contributing to fatty liver disease.	iScience (February 2021)	Lifr^{tm1a(EUCOMM)Hmgu}	PMC7970148
Leukemia Inhibitory Factor Inhibits Plasmacytoid Dendritic Cell Function and Development.	Journal of immunology (Baltimore, Md. : 1950) (March 2020)	Lifr^{tm1c(EUCOMM)Hmgu} Lifr^{tm1a(EUCOMM)Hmgu} Lifr^{tm1b(EUCOMM)Hmgu}	32169845
Targeting LIF-mediated paracrine interaction for pancreatic cancer therapy and monitoring.	Nature (April 2019)	Lifr^{tm1a(EUCOMM)Hmgu}	PMC6565370
Leukemia Inhibitory Factor-Receptor is Dispensable for Prenatal Testis Development but is Required in Sertoli cells for Normal Spermatogenesis in Mice.	Scientific reports (August 2018)	Lifr^{tm1b(EUCOMM)Hmgu} Lifr^{tm1c(EUCOMM)Hmgu}	PMC6070476

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MGI Allele	Allele Type	Produced
Lifr^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lifr^{tm1c(EUCOMM)Hmgu}	Wild type floxed exon (post-Flp)	Mice
Lifr^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Lifr^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lifr^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lifr MGI:96788

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

MicroCT E14.5-E15.5

X-ray

X-ray

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Lifr mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data