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Gene: Wnt9b MGI:1197020

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

wingless-type MMTV integration site family, member 9B

Synonyms:

Wnt15, Wnt14b, clf, clf1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Wnt9b 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 Wnt9b (1 diseases)
Human diseases predicted to be associated with Wnt9b (743 diseases)

The table below shows human diseases associated to Wnt9b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Renal Agenesis, Bilateral		Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m...	ORPHA:1848

The table below shows human diseases predicted to be associated to Wnt9b by phenotypic similarity.

Disease	Matching phenotypes	Source
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Telecanthus	Anodontia, Bilateral cleft lip and palate	OMIM:187350
Phlebectasia Of Lips	Abnormal lip morphology	OMIM:171450
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Syngnathia	Cleft palate	OMIM:119550
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Cleft upper lip	OMIM:137215
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes...	ORPHA:411709
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Cleft upper lip, Cleft palate, Ureth...	OMIM:273395
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size, Orofacial cleft, Cleft upper lip	ORPHA:85287
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis, Oral ulcer	OMIM:618287
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Genitopalatocardiac Syndrome	Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Gonadal dysgenesis, male	OMIM:231060
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Cleft palate, Hypoplasia of the uteru...	OMIM:601076
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens	OMIM:277180
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Cleft palate, H...	ORPHA:2237
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten...	ORPHA:93111
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus	ORPHA:2578
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hereditary Breast And/Or Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm	ORPHA:145
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Hydrolethalus	Cryptorchidism, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilatera...	ORPHA:2189
Intellectual Disability, Wolff Type	Hypospadias, Cryptorchidism, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, A...	ORPHA:3080
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Mmep Syndrome	Median cleft lip, Orofacial cleft	ORPHA:3434
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Decreased testicular size, Cleft palate	ORPHA:85273
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal...	OMIM:614527
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polycystic kidney dysplasi...	OMIM:613885
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Cleft palate, Horseshoe kidney	ORPHA:3320
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Cryptorchidism, Non-midline cleft lip, Orofacial cleft	ORPHA:1027
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur...	ORPHA:90793
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Phocomelia, Schinzel Type	Hypoplasia of penis, High, narrow palate, Cryptorchidism, Meningocele, Tracheoesophageal fistula,...	ORPHA:2879
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Phenobarbital Embryopathy	Unilateral cleft lip, Hypospadias	ORPHA:1919
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft ...	OMIM:244200
Parietal Foramina 1	Cleft palate, Cleft upper lip	OMIM:168500
Charlie M Syndrome	Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth	ORPHA:1406
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Microphthalmia, Syndromic 8	Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip	OMIM:601349
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp...	OMIM:614083
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Pallister-Killian Syndrome	Tented upper lip vermilion, Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypos...	OMIM:601803
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycystic ovaries, Ect...	ORPHA:1580
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Smooth philtrum	OMIM:193500
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Diprosopus	Non-midline cleft lip, Cleft palate	ORPHA:1681
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Cryptorchidism, Alveolar ridge overgrowth, Hydronephrosis, High palate,...	ORPHA:1655
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ...	OMIM:154230
Meckel Syndrome 14	Ambiguous genitalia, Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus	OMIM:619879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Open mouth, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, Abno...	ORPHA:722
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Non-midline cleft lip, Abnormality of the ureter, Cleft palate, Poly...	ORPHA:1770
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Cleft palate, Micropenis, Microglossia	OMIM:241800
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Hypospadias, Unilateral renal agenesis, Diastem...	ORPHA:96121
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni...	ORPHA:93929
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Aplasia of the uterus, Aplasia of the ova...	ORPHA:69085
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Trisomy 8Q	Hypoplasia of penis, Cryptorchidism, Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofa...	ORPHA:1752
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Rudiger Syndrome	Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Joubert Syndrome 20	Renal cyst	OMIM:614970
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia	OMIM:225060
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Mic...	OMIM:147950
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Cleft palate, Horsesho...	ORPHA:99776
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni...	ORPHA:456328
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Microphthalmia, Syndromic 12	Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death	OMIM:615524
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Intellectual Developmental Disorder, Autosomal Recessive 13	Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip	OMIM:613192
Distal Monosomy 7Q36	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mouth	ORPHA:1636
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni...	OMIM:137920
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Cleft p...	ORPHA:915
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Cystic Fibrosis	Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea	ORPHA:586
Omodysplasia 2	Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Uterus didelphys, C...	OMIM:164745
Coffin-Siris Syndrome 1	Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Spina bifida occulta, Hy...	OMIM:135900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Orofaciodigital Syndrome Xvii	High, narrow palate, Micropenis, Median cleft lip, Renal hypoplasia	OMIM:617926
Triploidy	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-midline cleft lip, ...	ORPHA:3376
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Cleft palate, Cleft upper lip	OMIM:244600
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Death in infancy, Spina bifida, Cleft palate, Horseshoe kidney, Aplasia of ...	OMIM:274000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp...	ORPHA:887
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Cleft upper lip, Conical tooth, Cleft palate, Widely space...	OMIM:106260
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ...	ORPHA:3097
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Vaginal atresia	OMIM:616258
Opitz Gbbb Syndrome	Anal atresia, Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, Cryp...	OMIM:300000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Müllerian Aplasia And Hyperandrogenism	Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o...	ORPHA:247768
Burn-Mckeown Syndrome	Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Thin vermilion border...	OMIM:608572
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Cryptorchidism, Abnormality ...	ORPHA:3378
Orofaciodigital Syndrome Viii	Median cleft lip, High palate, Cleft palate	OMIM:300484
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr...	OMIM:602418
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Clitoral hypertrophy	ORPHA:96181
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Non-midline cleft lip, Male pseudoherm...	ORPHA:2075
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:2476
Axial Osteomalacia	Renal cyst	OMIM:109130
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Hypogonadism, Cleft upper lip	OMIM:273400
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Non-midline cleft lip, Cleft palate, Everted lower lip vermilion, Hig...	ORPHA:1784
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Renal cyst, Cleft palate	OMIM:611561
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage...	OMIM:613390
Meckel Syndrome, Type 6	Occipital encephalocele, Abnormal internal genitalia, Cleft upper lip, Anencephaly, Cleft palate,...	OMIM:612284
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Juberg-Hayward Syndrome	Anteriorly placed anus, Horseshoe kidney, Cleft upper lip	OMIM:216100
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip	OMIM:601357
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon...	ORPHA:2059
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Blepharonasofacial Malformation Syndrome	Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ...	ORPHA:1756
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive...	ORPHA:432
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ...	OMIM:200990
Wolf-Hirschhorn Syndrome	Hypospadias, Cleft upper lip, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cle...	OMIM:194190
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Orofacial cleft, Wide mouth, Long phil...	OMIM:243310
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary	OMIM:615300
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney...	OMIM:618280
Culler-Jones Syndrome	Cleft upper lip, Cryptorchidism, Cleft palate, Hypogonadism, Micropenis	OMIM:615849
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Fetal Akinesia Deformation Sequence 4	Neonatal death, Cryptorchidism, High palate, Prenatal death	OMIM:618393
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou...	ORPHA:753
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Incomplete cleft of the upper lip, Deep philtrum, Orofacial cleft	ORPHA:77300
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Ab...	ORPHA:3253
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism...	OMIM:300219
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham...	OMIM:174300
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Zechi-Ceide Syndrome	Oligodontia, Cleft palate, Cleft upper lip	OMIM:612916
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Cryptorchidism, Non-midline clef...	ORPHA:1300
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
3Mc Syndrome 3	Bifid scrotum, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penos...	OMIM:248340
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Deep philt...	OMIM:612530
Rapp-Hodgkin Syndrome	Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, ...	OMIM:129400
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch...	ORPHA:2970
46,Xx Gonadal Dysgenesis	Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus	ORPHA:243
Hypertelorism, Microtia, Facial Clefting Syndrome	Narrow mouth, Ectopic kidney, Cleft palate, Cleft upper lip	OMIM:239800
Tetraamelia Syndrome 2	Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia	OMIM:618021
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Holoprosencephaly 4	Median cleft lip, Median cleft lip and palate	OMIM:142946
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size	OMIM:614838
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia	OMIM:617914
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, ...	OMIM:264480
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia	OMIM:119580
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Death in childhood, Shawl scrotum, Mi...	OMIM:600460
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Smith-Magenis Syndrome	Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Precocious pubert...	ORPHA:819
Bartsocas-Papas Syndrome	Median cleft lip, Narrow mouth, Cleft palate, Hypoplastic male external genitalia, Ambiguous geni...	ORPHA:1234
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate, Horseshoe ki...	OMIM:619103
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cryptorchidism, Cleft palate, Hypoplastic labia majora, ...	OMIM:244300
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Renal Agenesis, Bilateral	Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m...	ORPHA:1848
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Abnormality of the...	ORPHA:2315
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Renal hypoplasia, Cle...	OMIM:616300
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ec...	ORPHA:2549
Anophthalmia Plus Syndrome	Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate	ORPHA:1104
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:2117
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Mandibular condyle hy...	ORPHA:2975
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation, Bicornuate uterus, Abnormality of the uterus, Umbilical hernia	ORPHA:2143
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve...	OMIM:618622
Emanuel Syndrome	Delayed eruption of teeth, Dental crowding, Unilateral renal agenesis, Cryptorchidism, Submucous ...	ORPHA:96170
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, High pala...	ORPHA:2052
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ...	ORPHA:95706
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Hypoplasia of the uterus, Thick vermilion border, Everted lower lip ve...	OMIM:615866
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle...	ORPHA:63862
Aarskog-Scott Syndrome	Cleft upper lip, Bilateral cryptorchidism, Cryptorchidism, Cleft palate, Curved linear dimple bel...	OMIM:305400
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Recombinant 8 Syndrome	Small scrotum, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Gingival overgrowth...	ORPHA:96167
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou...	ORPHA:83628
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Abnormal dental morphology,...	ORPHA:861
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Non-midline cleft lip, Cleft palate	ORPHA:3429
Orofaciodigital Syndrome I	Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelomeningoc...	OMIM:311200
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Everted lower lip...	OMIM:619736
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Clitoral hypertrophy, Anuria, Hypospadias, Urinary incontinenc...	ORPHA:237
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Cryptorchidism, Hydromet...	ORPHA:2473
Frontonasal Dysplasia 1	Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium...	OMIM:136760
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly...	OMIM:613091
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenes...	ORPHA:1297
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate	ORPHA:2003
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis,...	OMIM:601808
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Cleft palate, Ethmoidal encephalocele, Cleft upper lip	OMIM:607597
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Aganglionic megacolon, Intestina...	OMIM:229850
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Thoracoabdominal Syndrome	Hypospadias, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
3Mc Syndrome 2	Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, Downturned corners ...	OMIM:265050
Vacterl With Hydrocephalus	Spina bifida, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Abnormal fallopian t...	ORPHA:3412
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Abnormal vagina morphology	ORPHA:2123
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate	OMIM:258865
Pallister-Hall Syndrome	Natal tooth, Hydroureter, Distal urethral duplication, Cleft upper lip, Precocious puberty, Crypt...	OMIM:146510
Naxos Disease	Cleft upper lip	ORPHA:34217
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia	OMIM:615989
Dystonia-Deafness Syndrome 1	Cleft palate, Cleft upper lip	OMIM:607371
Acrocardiofacial Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate...	ORPHA:2008
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Interstitial Cystitis	Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a...	ORPHA:37202
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth...	OMIM:122470
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Satoyoshi Syndrome	Hypoplasia of the uterus, Malabsorption	OMIM:600705
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Myoectodermal Gonadal Dysgenesis Syndrome	Smooth philtrum, Unilateral renal agenesis, Pyloric stenosis, Hypoplasia of the uterus, Hypoplast...	OMIM:618419
Postaxial Acrofacial Dysostosis	Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cryptorchidism, Cleft palat...	OMIM:263750
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Small scrotum, Bilateral cleft lip, Hypospadias, Cryptorchidism, S...	OMIM:612651
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Pallister-Hall Syndrome	Decreased testicular size, Natal tooth, Small scrotum, Hypospadias, Accessory oral frenulum, Ecto...	ORPHA:672
Pentalogy Of Cantrell	Encephalocele, Hypospadias, Non-midline cleft lip, Anencephaly, Cleft palate, Orofacial cleft	ORPHA:1335
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Micropenis, Decreased testicular size, Cleft palate	OMIM:614880
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Bresek Syndrome	Aganglionic megacolon, Cryptorchidism, Renal hypoplasia, Cleft palate, Neonatal death, Vesicouret...	ORPHA:85284
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste...	OMIM:305450
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Cleft palate, Thin vermilion border,...	OMIM:614294
Hand-Foot-Genital Syndrome	Hypospadias, Miscarriage, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uteru...	ORPHA:2438
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Cleft palate, Unilateral cleft lip, Micropenis, Hydronephrosis	OMIM:616897
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Anal atresia, Horseshoe kidney	OMIM:619318
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Cryptorchidism, High palate	OMIM:611890
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cryptorchidism, Cleft palate,...	ORPHA:261236
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Waardenburg Syndrome	Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Myelomeningocele,...	ORPHA:3440
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palate	OMIM:206920
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of...	OMIM:309801
Diamond-Blackfan Anemia 6	Bifid uvula, Cleft palate, Cleft upper lip	OMIM:612561
Koolen-De Vries Syndrome	Cleft upper lip, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate, High palate, Wide...	OMIM:610443
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, P...	OMIM:300707
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm...	ORPHA:2232
Oculomaxillofacial Dysostosis	Median cleft lip, Cleft palate, Abnormality of the dentition	ORPHA:1794
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Anteriorly placed anus, C...	OMIM:261540
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Smooth philtrum	ORPHA:1915
Nager Syndrome	Unilateral renal agenesis, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal palate morph...	ORPHA:245
Camptobrachydactyly	Urinary incontinence, Septate vagina	OMIM:114150
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Cleft palate, Cleft upper lip	OMIM:268850
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Wide mouth, Median cleft palate	ORPHA:1827
Microsporidiosis	Glossitis, Prostatitis, Urethritis, Abnormal endometrium morphology, Abnormal fallopian tube morp...	ORPHA:2552
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Cleft upper lip	OMIM:600987
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Hypospadias, Death in childhood	OMIM:619334
Microphthalmia, Syndromic 9	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ...	OMIM:601186
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia	OMIM:300068
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Vaginal stricture...	ORPHA:79409
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Renal hy...	OMIM:269860
Trisomy 18	Spina bifida, Esophageal atresia, Non-midline cleft lip, Cryptorchidism, Anencephaly, Cleft palat...	ORPHA:3380
Meckel Syndrome, Type 1	Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, External ...	OMIM:249000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic h...	OMIM:604292
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Median cleft lip, Cleft palate	ORPHA:2165
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Umbilica...	OMIM:612582
Fixed Drug Eruption	Stomatitis, Oral ulcer, Vaginal mucosal ulceration	ORPHA:293812
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormal fallopian tube morphology, Abnormal dental enamel morphology,...	ORPHA:2556
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Solitary Median Maxillary Central Incisor	Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft...	OMIM:147250
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Cle...	OMIM:239300
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Meacham Syndrome	Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic hypogonadism, Cl...	OMIM:129900
Silver-Russell Syndrome	Abnormality of male external genitalia, Dental crowding, Hypospadias, Precocious puberty, Cryptor...	ORPHA:813
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy, Organic aciduria	OMIM:617184
Femoral-Facial Syndrome	Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder	OMIM:300076
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,...	ORPHA:2470
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Craniofrontonasal Syndrome	Hypospadias, Abnormality of the dentition, Cleft upper lip, Cryptorchidism, Cleft palate, Shawl s...	OMIM:304110
H Syndrome	Malabsorption, Cleft upper lip, Gingival overgrowth, Azoospermia, Hypogonadism, Micropenis, Decre...	ORPHA:168569
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Bilateral cryptorchidism, Absent external genitalia, Ectopic kidn...	OMIM:263650
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Non-midline cleft lip, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism	ORPHA:1908
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Cleft lip, Uterus dide...	OMIM:617925
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Dental crowding, Hypospadias, Cleft upper lip...	OMIM:219000
Oeis Complex	Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genita...	OMIM:258040
Postaxial Acrofacial Dysostosis	Non-midline cleft lip, Cleft palate	ORPHA:246
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Thick vermilion bor...	OMIM:242840
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Narrow palate, Broad alveolar ri...	OMIM:605039
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Meningocele, Agonadi...	ORPHA:991
Hand-Foot-Genital Syndrome	Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel...	OMIM:140000
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Holoprosencephaly 9	Cleft upper lip, Cryptorchidism, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilatera...	OMIM:610829
Zaki Syndrome	Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Hydronephrosis	OMIM:619648
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Bifid uterus, Anencephaly, Cleft palate, Stillbirth, Abnormal vagi...	OMIM:236680
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Proteinuria, Vaginal atresia	OMIM:191830
Chand Syndrome	Hydroureter, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes...	ORPHA:1401
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria	OMIM:615228
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Hematuria, Abnormal lip morphology, Abnormal vagina...	ORPHA:1334
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Hydatidiform Mole	Miscarriage, Enlarged uterus	ORPHA:99927
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Orofaciodigital Syndrome Type 4	Decreased testicular size, Median cleft lip, Monorchism, Abnormal oral mucosa morphology, High, n...	ORPHA:2753
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Wide mouth, Median pseudocle...	OMIM:619758
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou...	OMIM:606408
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, Aplasia of the ...	OMIM:617088
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Orofacial cleft, Narrow mouth, Vaginal atresia, Ana...	ORPHA:3301
Multiple Pterygium Syndrome, X-Linked	Cleft palate, Cleft upper lip	OMIM:312150
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Micropenis, Polycyst...	OMIM:263520
Hartsfield Syndrome	Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis	OMIM:615465
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Horses...	OMIM:176450
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Spina bifida occulta	ORPHA:1787
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Unilateral cleft lip	ORPHA:2511
Microphthalmia With Limb Anomalies	Death in infancy, Macrodontia, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, T...	ORPHA:1106
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Cleft palate	ORPHA:1791
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Dental crowding, Intestinal malrotation...	OMIM:300373
Orofaciodigital Syndrome Vi	Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ...	OMIM:277170
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Polycystic kidney dysplasia, Smooth philtrum	OMIM:263210
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, High palate	OMIM:110100
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Cleft upper lip, Cleft palate...	OMIM:161200
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Camptobrachydactyly	Septate vagina	ORPHA:1319
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Spina bifida, Cleft upper lip, Hamartomatous...	OMIM:109400
Roberts Syndrome	Cleft upper lip, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplas...	ORPHA:3103
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p...	OMIM:252100
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Cryptorchidism,...	ORPHA:93271
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion	OMIM:242500
Hypertelorism-Microtia-Facial Clefting Syndrome	Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate	ORPHA:2213
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Micropenis, Neonatal death, Narrow mouth	OMIM:618810
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph...	ORPHA:2750
Neu-Laxova Syndrome 1	Spina bifida, Swollen lip, Cleft upper lip, Bifid uterus, Cryptorchidism, Thick lower lip vermili...	OMIM:256520
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral clef...	ORPHA:2162
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Proteinuria, Cleft palate, Cleft upper lip	ORPHA:33001
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Cleft palate	ORPHA:3374
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Unilateral renal agenesis, Cleft upper lip, Velopharyngeal insufficiency, ...	OMIM:154400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Cleft upper lip, Gingival overgrowth, Cleft palate, Microdontia of pri...	OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Cryptorchidism, Cleft palate, Hyp...	OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Cleft upper lip, Cleft palate, Macroglossia	OMIM:613150
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Tauro...	OMIM:164200
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Supernumerary t...	ORPHA:96149
Acromelic Frontonasal Dysostosis	Encephalocele, Cleft upper lip, Cryptorchidism, Cleft palate, U-Shaped upper lip vermilion	OMIM:603671
Developmental And Epileptic Encephalopathy 89	Thin upper lip vermilion, Clitoral hypertrophy, Hypoplastic labia minora, Cleft palate, Hypoplast...	OMIM:619124
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Rhombencephalosynapsis	Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ...	ORPHA:59315
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Hydrocele testis, Bicornuate uterus, Long...	OMIM:145420
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia	OMIM:601701
Ulnar-Mammary Syndrome	Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Ectopic anus, Hypodontia...	ORPHA:3138
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Constricting Bands, Congenital	Encephalocele, Bladder exstrophy, Cleft palate, Cleft upper lip	OMIM:217100
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy...	ORPHA:314588
Cerebrofaciothoracic Dysplasia	Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip	ORPHA:1394
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Ureteral duplication, Exaggerated cupid's bow, Hypo...	ORPHA:709
3Mc Syndrome 1	Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Spina bifida occulta, Hydronephrosis	OMIM:257920
Oculodentodigital Dysplasia	Neurogenic bladder, Median cleft lip, Abnormal dental enamel morphology, Premature loss of primar...	ORPHA:2710
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia	OMIM:270420
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Charge Syndrome	Delayed eruption of teeth, Bifid scrotum, Hypogonadotropic hypogonadism, Cleft upper lip, Abnorma...	ORPHA:138
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst	ORPHA:400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Opitz Gbbb Syndrome	Bifid scrotum, Natal tooth, Enlarged ovaries, Hypospadias, Shawl scrotum, Cleft lip, Cryptorchidi...	ORPHA:2745
Catel-Manzke Syndrome	Cleft upper lip, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, ...	OMIM:616145
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Joubert Syndrome 14	Renal cyst	OMIM:614424
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology	ORPHA:314478
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope...	ORPHA:261494
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Downturn...	ORPHA:280
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Cleft upper lip, Stillbirth, Umbilical hernia, Hydronephrosis	OMIM:308050
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Cryptorchidism, Protein-losing enteropathy, Long philtrum, Neonatal death	OMIM:608104
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uteru...	ORPHA:140952
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Intestinal malrotation, Cleft upper lip, Hiatus ...	OMIM:305600
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilateral cleft lip...	OMIM:610828
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Renal cyst, Micropenis, Bifid uvula, Penoscrotal h...	OMIM:270400
Adams-Oliver Syndrome 1	Encephalocele, Imperforate hymen, Cleft palate, Cleft upper lip	OMIM:100300
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Precocious puberty, Cleft pa...	ORPHA:50
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Exstrophy-Epispadias Complex	Bifid scrotum, Anal stenosis, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uter...	ORPHA:322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol...	OMIM:608836
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Bardet-Biedl Syndrome 1	Decreased testicular size, Aganglionic megacolon, Dental crowding, High, narrow palate, High pala...	OMIM:209900
Larsen Syndrome	Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Spina bifida occulta	OMIM:150250
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Uterus didelphys, B...	ORPHA:958
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis	OMIM:257300
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ovotestis, Cleft lip, Cleft palate, Sex reversal	OMIM:611812
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Anal atresia, Persistent cloaca	OMIM:615709
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Acrofrontofacionasal Dysostosis 1	Wide mouth, Oligodontia, Cleft palate, Cleft upper lip	OMIM:201180
Nijmegen Breakage Syndrome	Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Hydronephrosis, Anal atresia	OMIM:251260
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl...	ORPHA:2250
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Occipital encephalocele, Neonatal death, Narrow mouth	OMIM:224410
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula, Neo...	OMIM:619859
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cleft upper lip, Cryptorchidism, Frontal encephalocele, Long ...	OMIM:268300
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Death in childhood, 3-Methylglutaconic aciduria, Long philtrum, Neon...	OMIM:614052
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Aicardi Syndrome	Spina bifida, Hiatus hernia, Precocious puberty, Cleft upper lip, Cleft palate	OMIM:304050
Lymphatic Malformation 12	Hydrocele testis, Neonatal death, Death in adolescence	OMIM:620014
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora, Long philtrum	OMIM:207410
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, High, narrow palate, Abnormality of the gingiva, Epispadias, Downturned corn...	ORPHA:3107
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Fanconi Anemia	High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Fetal Gaucher Disease	Neonatal death, Death in infancy, Stillbirth, High palate	ORPHA:85212
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst	OMIM:212065
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Cryptorchidism, Dental malocclus...	OMIM:101200
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft...	OMIM:603457
Faciocardiomelic Dysplasia, Lethal	Neonatal death, Microglossia, Narrow mouth	OMIM:227270
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Tarp Syndrome	Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Neonatal death, Meckel...	OMIM:311900
Floating-Harbor Syndrome	Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Cryptorchidism, Glandular h...	OMIM:136140
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Bifid uterus, Abnormal reproductive system morphology, Wide mouth, High p...	ORPHA:1521
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H...	ORPHA:201
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464311
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation, Non-acidotic proximal tubulopathy, Bicornuate uterus, Umbili...	OMIM:222448
Diamond-Blackfan Anemia 1	Cleft upper lip, Renal hypoplasia, Cleft palate, High palate, Colon cancer, Spina bifida occulta	OMIM:105650
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia	OMIM:614866
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona...	OMIM:618820
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Septate vagina, Persistence of primary teeth, Cryptorchid...	OMIM:300166
Raine Syndrome	Natal tooth, Death in infancy, Hydroureter, Protruding tongue, Gingival overgrowth, Cleft palate,...	OMIM:259775
Lymphedema-Distichiasis Syndrome	Cleft palate, Cleft upper lip	OMIM:153400
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Acrorenal-Mandibular Syndrome	Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Polyc...	OMIM:200980
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Charge Syndrome	Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Cleft upper lip, Esoph...	OMIM:214800
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation, Abnormality of the urethra, ...	ORPHA:537
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464306
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Cleft upper lip, Ectopic kidney, Cryptorchidism, Submuc...	OMIM:607872
Hardikar Syndrome	Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Celiac disease, Esop...	OMIM:301068
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Short...	ORPHA:572333
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Enlarged kidney,...	OMIM:314390
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
22Q11.2 Deletion Syndrome	Short philtrum, Abnormality of the uterus, Vesicoureteral reflux, Hypospadias, Abnormal dental en...	ORPHA:567
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Submucous ...	OMIM:312870
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Floating-Harbor Syndrome	Hypospadias, Persistence of primary teeth, Celiac disease, Carious teeth, Precocious puberty, Cry...	ORPHA:2044
Branchiooculofacial Syndrome	Hypospadias, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, ...	OMIM:113620
Kyphomelic Dysplasia	Cleft palate, Cleft upper lip	OMIM:211350
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Frontofacionasal Dysplasia	Cranium bifidum occultum, Bifid uvula, Orofacial cleft, Cleft upper lip	OMIM:229400
Afibrinogenemia, Congenital	Death in infancy, Death in adolescence, Gingival bleeding, Death in childhood, Neonatal death	OMIM:202400
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret...	ORPHA:857
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog...	ORPHA:828
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Vaginal atresia	OMIM:248450
Cornelia De Lange Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intest...	ORPHA:199
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria	OMIM:602199
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Carious teeth, Cryptorchidism, Grade III v...	OMIM:619522
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Microphthalmia, Syndromic 1	Hydroureter, Dental crowding, Aganglionic megacolon, Hypospadias, Cleft upper lip, High, narrow p...	OMIM:309800
Alg9-Cdg	Thin upper lip vermilion, Villous atrophy, Ureteral hypoplasia, Wide mouth, Hydronephrosis, Bicor...	ORPHA:79328
Holoprosencephaly 14	Cleft lip, Median cleft lip, Cleft palate	OMIM:619895
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Johanson-Blizzard Syndrome	Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Malabsorption, Urethrovag...	OMIM:243800
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophagea...	OMIM:265380
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney...	ORPHA:731
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Hypospadias, Renal cyst	OMIM:616975
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Semilobar Holoprosencephaly	Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra...	ORPHA:93924
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Atelosteogenesis, Type I	Encephalocele, Cryptorchidism, Cleft palate, Stillbirth, Neonatal death	OMIM:108720
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic...	OMIM:269150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour...	ORPHA:261537
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Death in infancy, Small scrotum, Protruding tongue, High, narrow palate...	OMIM:612289
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Mowat-Wilson Syndrome	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced teeth, Ves...	ORPHA:2152
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca	ORPHA:1112
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Ulnar-Mammary Syndrome	Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Hypodontia, Shawl scrotum, Mic...	OMIM:181450
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ...	ORPHA:798
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl...	ORPHA:3310
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Multicystic kidney dysplasia, R...	OMIM:107480
Lymphatic Malformation 13	Hydrocele testis, Neonatal death, Smooth philtrum, Long philtrum	OMIM:620244
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
C Syndrome	Renal cortical cysts	OMIM:211750
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi...	ORPHA:534
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Loeys-Dietz Syndrome	High palate, Bifid uvula, Orofacial cleft, Uterine rupture	ORPHA:60030
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour...	ORPHA:261552
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft	ORPHA:3186
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Cranioectodermal Dysplasia 2	Renal insufficiency, Renal cyst	OMIM:613610
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma...	ORPHA:818
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Thin upper lip vermilion, Carious teeth, Bilateral cryptorchidism, Deep philtr...	OMIM:150230
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard palate, Hydropic placenta, S...	OMIM:275210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Distal Deletion 15Q	Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias	ORPHA:1596
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Thin vermilion border, Periodontitis, Uterine ...	OMIM:130050
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr...	ORPHA:286
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Oral mucosal blisters, Intestinal perforation, Moderate album...	ORPHA:95455
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst...	ORPHA:116
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Cleft upper lip, Ectopic kidney, Vesicoure...	OMIM:164210
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis	ORPHA:1606
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia	OMIM:210710
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
Hajdu-Cheney Syndrome	Multiple renal cysts, Hypospadias	ORPHA:955
Femoral-Facial Syndrome	Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia	OMIM:134780
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Hematuria, Esophageal u...	ORPHA:99921
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:300855
Mednik Syndrome	Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon	OMIM:609313
Williams Syndrome	Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr...	ORPHA:904
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re...	OMIM:308205
Primary Sjögren Syndrome	Renal insufficiency, Glomerulonephritis, Xerostomia, Tubulointerstitial nephritis, Vaginal drynes...	ORPHA:289390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Unilater...	OMIM:619503
Classical Ehlers-Danlos Syndrome	Hiatus hernia, Rectal prolapse, Cervical insufficiency, Bladder diverticulum, Pulp calcification,...	ORPHA:287
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Renal cyst	ORPHA:744
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Holoprosencephaly 1	Micropenis, Median cleft lip and palate	OMIM:236100
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Norrie Disease	Cryptorchidism, Thin vermilion border, Uterine rupture	ORPHA:649
Pmm2-Cdg	Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria	ORPHA:79318

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 Wnt9b

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 Wnt9b.

No publications found that use IMPC mice or data for Wnt9b.

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MGI Allele	Allele Type	Produced
Wnt9b^{tm114(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Wnt9b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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