Not currently registered for phenotyping at IMPC

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

Gene Summary

dishevelled-binding antagonist of beta-catenin 1
THYEX3,  Frd1,  Frodo,  Frodo1,  Dapper1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Dact1 mutations

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

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

The table below shows human diseases associated to Dact1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dact1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ambiguous genitalia, Spina bifida, Sirenomelia, Abnormality of the urinary system, Aplasia/Hypopl... ORPHA:3169
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Chromosome 17Q12 Deletion Syndrome
Scoliosis, Cryptorchidism, Hypoplasia of the bladder, Recurrent urinary tract infections, Uretera... OMIM:614527
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Urethral atresia, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Absent ext... OMIM:271520
Caudal Duplication
Cryptorchidism, Spina bifida, Abnormal penis morphology, Spinal cord lesion, Intestinal duplicati... ORPHA:1756
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Sirenomelia, Cleft palate, Renal agenesis, Abno... ORPHA:1848
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Vaginal fistula, Sacral dimple, Hemivertebrae, Anal atresia OMIM:619318
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Horseshoe kidney, Abnormality of finger, Abnormal vertebral ... ORPHA:2319
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Death in infancy, Unilateral renal agenesis, Sacral dimple, Vertebral f... OMIM:618845
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Primary amenorrhea, Distal renal tubular acidosis, Unilateral r... OMIM:146255
Cloacal Exstrophy
Abnormality of tibia morphology, Hydroureter, Intestinal malrotation, Hemivertebrae, Vesicoureter... ORPHA:93929
Mckusick-Kaufman Syndrome
Cryptorchidism, Glandular hypospadias, Postaxial hand polydactyly, Urogenital sinus anomaly, Tars... ORPHA:2473
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Abnormality of the vertebral column, Unilateral renal agenesis, Hypoplasia of the ut... OMIM:601076
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Syndactyly, Renal cyst, Hypospadias OMIM:605231
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of tibia morphology, Sacral dimple, Abnormality of the ureter, Hypospadias, Short neck ORPHA:2487
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism, Abnormality of the kidney OMIM:615987
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Mckusick-Kaufman Syndrome
Cryptorchidism, Postaxial hand polydactyly, Congenital hip dislocation, Transverse vaginal septum... OMIM:236700
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Horseshoe kidney, Abnormal form of the vertebral bodies, Unilateral renal ... ORPHA:3109
Scoliosis, Cryptorchidism, Duplicated colon, Hemivertebrae, Bladder exstrophy, Epispadias, Ureter... ORPHA:227
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Renal dysplasia, Bicornuate uterus, Ectopic kidney... ORPHA:2578
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Abnormality of the kidney, Genu varum, Cleft p... ORPHA:3320
Prune Belly Syndrome
Scoliosis, Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Congenital hip di... ORPHA:2970
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Renal dysplasia, Renal cyst, Renal agenesis, Hy... OMIM:615993
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Scoliosis, Hip dysplasia, Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, Clinoda... ORPHA:457284
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Myelomeningocele ORPHA:63260
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Scoliosis, Cryptorchidism, Horseshoe kidney, 2-3 toe syndactyly, Gastroesophageal reflux, High pa... ORPHA:502434
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ec... ORPHA:2345
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Absent vas defe... ORPHA:411709
Orofaciodigital Syndrome V
Scoliosis, Postaxial hand polydactyly, Horseshoe kidney, Aganglionic megacolon, Cleft palate, Lob... OMIM:174300
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal morphology of female internal genitalia, Anorectal anomaly, Morphological abn... ORPHA:1834
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Spina bifida, Multiple renal cysts, Horseshoe kidney, Abnormality of t... ORPHA:99776
Macdermot-Winter Syndrome
Camptodactyly of finger, Hypoplastic male external genitalia, Death in infancy, Hydronephrosis OMIM:247990
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Unilateral renal agenesis, Primary amenorrhea, Cleft palate, Hypogonadotropic hyp... OMIM:244200
Cardiospondylocarpofacial Syndrome
Scoliosis, Horseshoe kidney, Tarsal synostosis, Gastroesophageal reflux, Cone-shaped epiphysis, C... OMIM:157800
Joubert Syndrome 18
Polydactyly, Camptodactyly, Horseshoe kidney, Kyphoscoliosis OMIM:614815
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Rena... ORPHA:281090
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Bifid cl... OMIM:600057
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Horseshoe kidney, 2-3 toe syndactyly, Clinodactyly OMIM:617352
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnor... OMIM:308205
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Ambiguous genitalia, Preaxial polydactyly, Unilateral renal agenesis, Postax... OMIM:618142
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, 2-3 toe syndactyly, Unilateral renal agenesis, Hypogonadism, High palate, Gonadal... ORPHA:3306
Juberg-Hayward Syndrome
Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Horseshoe kidney, Overlapping toe, Camptodactyly, Recurrent urin... ORPHA:363444
Exstrophy-Epispadias Complex
Cryptorchidism, Bladder duplication, Bifid uterus, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Caudal Regression Sequence
Scoliosis, Cryptorchidism, Ambiguous genitalia, Renal agenesis, Abnormal iliac wing morphology, A... ORPHA:3027
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Cryptorchidism, Hip dysplasia, Overlapping fingers, Overlapping toe, Renal hypoplasia,... OMIM:618494
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Micropenis, Spinal dysraphism, ... ORPHA:1926
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, External genital hypoplasia, Syndactyly, Renal cyst, Hypogonadism, B... OMIM:615982
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, External genital hypoplasia, Anal atresia, Hydronephros... OMIM:613390
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Reduced sperm motility, Decreased numbers of nephrons, Renal hypoplasi... OMIM:137920
Vacterl/Vater Association
Cryptorchidism, Abnormality of the urethra, Abnormal sacrum morphology, Preaxial hand polydactyly... ORPHA:887
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, ... ORPHA:294975
Image Syndrome
Cryptorchidism, Metaphyseal dysplasia, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Emanuel Syndrome
Scoliosis, Cryptorchidism, Infertility, Congenital hip dislocation, Renal hypoplasia, Dysphagia, ... ORPHA:96170
Duane-Radial Ray Syndrome
Scoliosis, Crossed fused renal ectopia, Sandal gap, Vesicoureteral reflux, Absent radius, Spina b... OMIM:607323
Scoliosis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Horseshoe kidney ORPHA:370927
Currarino Syndrome
Neurogenic bladder, Presacral teratoma, Hemisacrum, Horseshoe kidney, Gastrointestinal obstructio... OMIM:176450
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Bilateral renal agenesis, Scrotal hypoplasia, 3-4 finger cutaneous s... ORPHA:672
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis OMIM:256690
Oeis Complex
Cryptorchidism, Bifid uterus, Duplicated colon, Congenital hip dislocation, Hydroureter, Duplicat... OMIM:258040
Lumbar Syndrome
Cryptorchidism, Spina bifida, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Ectopic anus, Hyp... ORPHA:83628
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Urogenital sinus anomaly, Ambiguous genit... ORPHA:261529
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Crossed fused renal ectopia, Horseshoe kidney, Abnormal vagi... ORPHA:3097
Doors Syndrome
Narrow palate, Sirenomelia, Hemivertebrae, Short distal phalanx of finger, Spina bifida occulta, ... ORPHA:79500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Horseshoe kidney, Narrow palate, Camptodactyly, Hypoplastic iliac wing... OMIM:235510
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Absent vas deferens, ... ORPHA:93111
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon OMIM:235740
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Abnormality of the urinary system, Partial duplication of the distal p... ORPHA:2669
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney OMIM:218350
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Abnor... OMIM:274000
Short Stature Syndrome, Brussels Type
Horseshoe kidney, Delayed epiphyseal ossification OMIM:601350
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux, Abnormal hip bone morphology, Cleft ... ORPHA:1166
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, Ambiguous gen... OMIM:606408
Distal Tetrasomy 15Q
Scoliosis, Hydrocele testis, Horseshoe kidney, Kyphosis, Camptodactyly, Nephroblastoma, Hydroneph... ORPHA:314588
Short Stature, Brussels Type
Horseshoe kidney, Delayed epiphyseal ossification ORPHA:2867
Ring Chromosome 8 Syndrome
Hydronephrosis, Deviation of finger, Abnormality of the ureter ORPHA:1450
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, Hydrocephalus, 1-2 finger syndactyly, Congenital megaureter,... ORPHA:2437
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Renal agenesis, Endometriosis, Recurrent urinary tract infections OMIM:613680
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Tarsal synostosis, Camptodactyly, Vesicoureteral reflux, Increased siz... ORPHA:95699
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Epispadias, Hi... ORPHA:1772
Myopathy, Congenital, Progressive, With Scoliosis
Scoliosis, Cryptorchidism, Renal atrophy, Dysphagia, Hydronephrosis, High palate OMIM:618578
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Short femur, Long penis, Radioulnar synostosis, Preaxia... ORPHA:1988
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Unilateral renal agenesis, Cervical C2/C3 vertebr... OMIM:118100
Braddock Syndrome
Scoliosis, Preaxial hand polydactyly, Unilateral renal agenesis, Hemivertebrae, Short neck ORPHA:52047
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Trisomy 20P
Scoliosis, Cryptorchidism, Short neck, Abnormality of the kidney, Multiple renal cysts, Preaxial ... ORPHA:261318
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Mosaic Trisomy 14
Cryptorchidism, Camptodactyly of finger, High palate, Cleft palate, Ectopic anus, Hypoplasia of p... ORPHA:1703
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Cystic renal dysplasia, Gastroesophag... OMIM:156810
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short ... OMIM:101800
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Aplasia of the vagina OMIM:193500
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Intestinal malrotation, Abnormality of the metacarpal b... ORPHA:2538
Distal Monosomy 10Q
Hip dysplasia, Horseshoe kidney, Acute kidney injury, Short metatarsal, Cleft palate, Enuresis, S... ORPHA:96148
3Mc Syndrome 3
Cryptorchidism, Horseshoe kidney, Radioulnar synostosis, Bifid scrotum, Preaxial polydactyly, Sac... OMIM:248340
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scoliosis, Bifid distal phalanx of toe, Hip dysplasia, Unilateral renal agenesis, Anal atresia, B... OMIM:618419
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Ureteral atresia, Thoracolumbar scoliosis, Hydronephrosis, Split foot, Spina bifida o... OMIM:183802
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Vesicoureteral ref... ORPHA:2470
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, High palate, Short foot, Cleft palate, Small hand, Hydr... OMIM:611209
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Duodenal atresia, Spi... OMIM:619227
Split Cord Malformation
Scoliosis, Neurogenic bladder, Cervical spina bifida, Pes planus, Spinal cord tumor, Hemivertebra... ORPHA:573278
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Unilateral renal agenesis, Hemivertebrae OMIM:608406
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Dislocated radial head, Camptodactyly of finger, Talipes equin... ORPHA:2839
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Meckel Syndrome, Type 10
Postaxial polydactyly, Sacral dimple, Renal cyst, Cleft palate, Hypospadias, Micropenis OMIM:614175
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, 2-3 toe syndactyly, Renal dysplasia, Neonatal death, Clinodactyly o... OMIM:236500
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Horseshoe kidney, Kyphoscoliosis ORPHA:101003
Proteus Syndrome
Scoliosis, Ovarian neoplasm, Sirenomelia, Abnormality of the metacarpal bones, Pulmonary embolism... ORPHA:744
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
3Mc Syndrome 2
Cryptorchidism, Horseshoe kidney, Abnormality of the vertebral column, Abnormal vertebral morphol... OMIM:265050
Trisomy 13
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts... ORPHA:3378
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Abnormality of the metacarpal bones, Abnormalit... ORPHA:3266
Verheij Syndrome
Scoliosis, Renal hypoplasia, Hemivertebrae, Vertebral fusion, Clinodactyly, Renal cyst, Renal age... OMIM:615583
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Hypoplasia of the radius, Horseshoe kidney, Renal hypoplasia, Short 1s... OMIM:609053
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Kyp... ORPHA:3409
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Camptodactyly of fin... ORPHA:2311
Mosaic Trisomy 16
Meckel diverticulum, Horseshoe kidney, Short forearm, Abnormality of the gastrointestinal tract, ... ORPHA:1708
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Aplasia/Hypoplasia of the radius, ... ORPHA:2973
Cat-Eye Syndrome
Hip dysplasia, Abnormal localization of kidney, Anal atresia, Hydronephrosis, Renal hypoplasia/ap... ORPHA:195
3Q29 Microdeletion Syndrome
Horseshoe kidney, High palate, Gastroesophageal reflux, Six lumbar vertebrae, Hypospadias, Clinod... ORPHA:65286
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Schisis Association
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula,... ORPHA:63862
Musculocontractural Ehlers-Danlos Syndrome
Scoliosis, Cryptorchidism, Horseshoe kidney, Malrotation of small bowel, Functional abnormality o... ORPHA:2953
Trichorhinophalangeal Syndrome, Type Ii
Scoliosis, Avascular necrosis of the capital femoral epiphysis, Vesicoureteral reflux, Syndactyly... OMIM:150230
Prune Belly Syndrome
Cryptorchidism, Congenital hip dislocation, Hydroureter, Urethral valve, Xerostomia, Anal atresia... OMIM:100100
9Q21.13 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Abnormal tongue morphology, Polydactyly, Hydronephrosis... ORPHA:531151
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Bowed forearm bones, Forearm undergrowth, Absent radius, Ectopic kidney, Absent... OMIM:602200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, High palate, Unilateral renal agenesis, Hydronephrosis OMIM:609757
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Unilateral renal agenesis, Testicular atrophy, Hypogonadotropic hypogonadism, Hig... OMIM:308750
Multiple renal cysts, Myelomeningocele, Absent or minimally ossified vertebral bodies, Abnormal v... ORPHA:66637
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Azoospermia, High palate, Unilateral renal agenesis, Testicular atrophy, Hypogona... OMIM:308700
Acro-Renal-Ocular Syndrome
Radial club hand, Crossed fused renal ectopia, Broad hallux phalanx, Sandal gap, Vesicoureteral r... ORPHA:959
Non-Syndromic Anorectal Malformation
Hemisacrum, Rectourethral fistula, Rectal fistula, Hydrocolpos, Hemivertebrae, Persistent cloaca,... ORPHA:557
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Bicornuate uterus, Absent radius, Triphalangeal thumb, Hallux valgus, Hypoplasia of th... OMIM:154400
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hip subluxation, Epiphyseal stippling, Scrotal hypoplasia, Intestinal malrotation... OMIM:270400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split ... OMIM:609945
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus OMIM:301800
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Oligospermia, Absent vas deferens, Obstructive azoospermia, Male infer... ORPHA:48
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Clinodactyly of the 5th finger, Cleft palate, Anal atresia, E... ORPHA:1580
Ophthalmoplegia, External, And Myopia
Absent patellar reflexes, Spina bifida, Absent Achilles reflex OMIM:311000
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration, Ileitis OMIM:618287
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Abnormality of the ureter, Abnormal hip bone morphology, Hypospadias, Sh... ORPHA:2522
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Crossed fused renal ectopia, Horseshoe kidney ORPHA:2213
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Short finger, Multicystic kidney dysplasia, Radial deviation of finge... OMIM:300209
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Aplasia/Hypoplasia of the radius, Anencephaly, Ectopic anus, Cleft palate ORPHA:2476
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney OMIM:617406
Faciocardiorenal Syndrome
Scoliosis, Cryptorchidism, Horseshoe kidney, Toe syndactyly, Hydroureter, Clinodactyly, Cleft pal... OMIM:227280
Chops Syndrome
Cryptorchidism, Horseshoe kidney, Gastroesophageal reflux, Vesicoureteral reflux, Brachydactyly OMIM:616368
1Q44 Microdeletion Syndrome
Scoliosis, Horseshoe kidney, Intestinal malrotation, Vesicoureteral reflux, High palate ORPHA:238769
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypopl... OMIM:601389
Spina bifida, Postaxial hand polydactyly, Talipes, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal atresia, Vesicoureteral reflu... ORPHA:2237
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased nu... OMIM:617641
Fanconi Anemia, Complementation Group C
Cryptorchidism, Horseshoe kidney, Hypergonadotropic hypogonadism, Duplicated collecting system, A... OMIM:227645
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Horseshoe kidney, Renal agenesis, Toe syndactyly, Clitoral hypertrophy,... ORPHA:140952
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
12Q14 Microdeletion Syndrome
Scoliosis, Horseshoe kidney, Renal hypoplasia, Intestinal malrotation, Ectopic kidney, Clinodacty... ORPHA:94063
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Abnormality of finger, Hyperphosphaturia, Kyphoscoliosis, Abnormality of toe, P... OMIM:163200
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Horseshoe kidney, Recurrent urinary tract infections, Vesicoureteral reflux, Hypo... OMIM:619103
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Anal stenosis, Bicornuate uterus, Rectovaginal fistula, Vesicoureteral reflux, Sp... OMIM:300707
Takenouchi-Kosaki Syndrome
Scoliosis, Cryptorchidism, Overlapping toe, Camptodactyly, Unilateral renal agenesis, Clinodactyl... OMIM:616737
Mosaic Trisomy 20
Scoliosis, Cryptorchidism, Horseshoe kidney, Kyphosis, Down-sloping shoulders, Vertebral segmenta... ORPHA:1724
3C Syndrome
Scoliosis, Hand polydactyly, Finger syndactyly, Kyphosis, Gastroesophageal reflux, Death in infan... ORPHA:7
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Cryptorchidism, Toe syndactyly, Polydactyly, Kyphosis, Pyloric stenosis, Unilateral re... ORPHA:464306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Pelvic kidney, Short neck, Thoracic scoli... ORPHA:508498
Postaxial hand polydactyly, Horseshoe kidney, Toe syndactyly, Postaxial foot polydactyly, Meningo... ORPHA:46059
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Cryptorchidism, Short toe, Kyphosis, Gastroesophageal reflux, Unilateral renal agenesi... ORPHA:464311
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial hand polydactyly, Horseshoe kidney, Vaginal atresia, Hydrometrocolpos, Brachydactyly OMIM:617088
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... ORPHA:90796
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male, Cleft palate OMIM:231060
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Polydactyly, External genital hypoplasia, Renal cyst, Stage 5 chronic kidn... OMIM:615994
Fanconi Anemia, Complementation Group A
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Hypergonadotropic hypogonadism, Dupl... OMIM:227650
Pfeiffer Syndrome Type 3
Short hallux, Horseshoe kidney, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Bro... ORPHA:93260
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Unilateral renal agenesis, Cleft palate, Spina bifida occul... OMIM:151100
Focal Dermal Hypoplasia
Scoliosis, Camptodactyly of finger, Spina bifida, Horseshoe kidney, Hand polydactyly, Toe syndact... ORPHA:2092
Isolated Hemihyperplasia
Scoliosis, Cryptorchidism, Myelomeningocele, Nephroblastoma ORPHA:2128
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Hypoplasia of the radius, Renal agenesis, Abnormal form of the vert... ORPHA:3412
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Scoliosis, Cryptorchidism, Esophagitis, Horseshoe kidney, Gastroesophageal reflux, Renal dysplasi... ORPHA:96182
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis OMIM:274265
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Inflammation of the large intestine, Proximal tubulopathy, Death in infancy, Posta... OMIM:614576
Ritscher-Schinzel Syndrome 1
Hemivertebrae, Syndactyly, Hydronephrosis, Anal atresia, Cleft palate, Hypospadias OMIM:220210
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Hemivertebrae, Mesoaxial foot polydactyly, Dec... OMIM:146510
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality... ORPHA:2842
Radial-Renal Syndrome
Absent thumb, Absent radius, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Pallister-Killian Syndrome
Cryptorchidism, Congenital hip dislocation, Short phalanx of finger, Intestinal malrotation, Shor... OMIM:601803
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Ambiguous genitalia,... OMIM:260660
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Hydroureter, Flared iliac wing, Camptodactyly, Metatarsus adductus, Sp... OMIM:201000
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Chordee, Ulnar deviation of the 2nd finger, Pseudoepiphyses, Vesicou... OMIM:140000
Fanconi Anemia, Complementation Group P
Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Short thumb, Pelvic kidney, Absent thumb OMIM:613951
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Scoliosis, Cryptorchidism, Tarsal synostosis, Chordee, Camptodactyly, Scrotal hypoplasia, Hemiver... OMIM:201750
Odontochondrodysplasia 1
Scoliosis, Platyspondyly, Nephronophthisis, Biconvex vertebral bodies, Short phalanx of finger, C... OMIM:184260
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Midshaft hypospadias, High palate, Anal atresia, Renal h... ORPHA:2863
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Short phalanx of finger, Acetabular dysplasia, Narrow greater sciatic ... ORPHA:508533
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Death in infancy, Abnormality of the metacarpal b... ORPHA:1106
Fanconi Anemia, Complementation Group E
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Hypergonadotropic hypogonadism, Dupl... OMIM:600901
Townes-Brocks Syndrome 2
Scoliosis, Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula, Anal atresia, Spina b... OMIM:617466
Feingold Syndrome Type 1
Nephritis, 4-5 toe syndactyly, Horseshoe kidney, Toe syndactyly, Gastrointestinal atresia, Short ... ORPHA:391641
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Urinary incontinence, Absence of the sacrum, Spina bifida occulta, My... OMIM:182940
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Metaphyseal chondrodysplasia, Horseshoe kidney, Renal cyst, Short metacarpal, Bra... ORPHA:166035
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Urethral atresia, Cryptorchidism, Abnormality of the urinary system, Hemivertebrae, Ve... ORPHA:94095
Tarp Syndrome
Scoliosis, Cryptorchidism, Rocker bottom foot, Abnormal duodenum morphology, Horseshoe kidney, Ha... ORPHA:2886
Hand-Foot-Genital Syndrome
Short hallux, Abnormality of the uterus, Postaxial hand polydactyly, Synostosis of carpal bones, ... ORPHA:2438
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Horseshoe kidney, Hyper... OMIM:227646
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Hydronephrosis, Cleft palate, Hypospadias OMIM:616449
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Toe syndactyly, Abnormal form of the vertebral bodies, Sac... ORPHA:1327
Tarp Syndrome
Hypoplasia of the radius, Horseshoe kidney, Tongue nodules, Short sternum, Postaxial polydactyly,... OMIM:311900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Genu valgum, Anal atresia, Hypoplasia of penis, Hypospadias ORPHA:1381
15Q Overgrowth Syndrome
Scoliosis, Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Overlapping toe,... ORPHA:314585
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Gastroesophageal reflux, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Cutis Laxa, Autosomal Dominant 3
Hip dislocation, Adducted thumb, Unilateral renal agenesis OMIM:616603
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Talipes, Renal hypoplasia, Spinal dysraphism, Aortic valve stenosis, Absence ... OMIM:617660
Seckel Syndrome 8
Ectopic kidney, Kyphoscoliosis OMIM:615807
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Umbilical hernia, Abnormality of... ORPHA:93930
Fanconi Anemia
Scoliosis, Cryptorchidism, Hydroureter, Pes planus, Recurrent urinary tract infections, Bicornuat... ORPHA:84
15q26 overgrowth syndrome
Scoliosis, Camptodactyly of finger, Abnormality of toe, Horseshoe kidney, Abnormality of finger, ... DECIPHER:81
Diamond-Blackfan Anemia 7
Scoliosis, Esophagitis, Horseshoe kidney, Vesicoureteral reflux, Short thumb, Cleft palate, Triph... OMIM:612562
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Narrow palate, Kyphosis, High, narrow palate, Pyloric stenosis, Verteb... ORPHA:96169
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Camptodactyly of finger, Scrotal hypoplasia, Hydronephrosis, Hypoplasia of penis,... ORPHA:2083
7Q11.23 Microduplication Syndrome
Cryptorchidism, High palate, Unilateral renal agenesis, Enuresis, Sacral dimple, Hemivertebrae, A... ORPHA:96121
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Umbilical hernia, Sandal gap, Abnormality of the ureter, High palate, Arachnodactyly... ORPHA:1035
Even-Plus Syndrome
Coronal cleft vertebrae, Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral ref... OMIM:616854
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614870
Distal 22Q11.2 Microduplication Syndrome
Scoliosis, Cryptorchidism, Camptodactyly of finger, Macroglossia, Toe syndactyly, Camptodactyly o... ORPHA:261337
Cryptorchidism, Macroglossia, Ambiguous genitalia, Finger syndactyly, Holoprosencephaly, Intestin... ORPHA:3376
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Short digit, Femor... OMIM:613091
Microphthalmia, Syndromic 9
Cryptorchidism, Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hypoplasia of the uterus, ... OMIM:601186
Distal Monosomy 13Q
Ambiguous genitalia, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bones, ... ORPHA:1590
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Dislocated radial head, Intestinal malrotation, Ectopic kidney, Short thumb, Brac... ORPHA:401935
Coach Syndrome 1
Nephronophthisis, Postaxial hand polydactyly, Unilateral renal agenesis, Esophageal varix, Renal ... OMIM:216360
Peters-Plus Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Square pelvis bone, Hemivertebrae, Clitoral hypoplas... OMIM:261540
Teebi-Shaltout Syndrome
Rocker bottom foot, Horseshoe kidney, Camptodactyly, Metatarsus adductus, Caudal appendage, Hydro... OMIM:272950
Harrod Syndrome
Scoliosis, Cryptorchidism, Abnormal shoulder morphology, Kyphosis, High palate, Multicystic kidne... ORPHA:2115
6P22 Microdeletion Syndrome
Clinodactyly, Short neck, Hydronephrosis, Finger syndactyly ORPHA:251046
Lumbosacral meningocele, Postaxial hand polydactyly, Horseshoe kidney, Ambiguous genitalia, male,... OMIM:607330
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Cryptorchidism, Genu valgum, Broad distal phalanx of finger, Macroglossia, Hydroureter... OMIM:619194
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Branchial cyst, Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Xp22.3 Microdeletion Syndrome
Sacral dimple, Polycystic ovaries, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hypogonad... ORPHA:1643
Amish Lethal Microcephaly
Organic aciduria, Cleft soft palate, Spina bifida, Death in infancy ORPHA:99742
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Trisomy X
Hip dysplasia, Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia, Clin... ORPHA:3375
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis, Clinodactyly, Ectopic kidney, Microp... OMIM:616541
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Neoplasm of the rectum... ORPHA:2869
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Renal agenesis, Gastroesophageal reflux, Shawl scrotum, Umbilical h... OMIM:301040
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Multicystic kidney dyspl... ORPHA:140976
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis, Spina bifida occulta OMIM:618060
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Vater/Vacterl Association
Scoliosis, Vesicoureteral reflux, Absent radius, Short thumb, Triphalangeal thumb, Hypoplasia of ... OMIM:192350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Umbilical hernia, Polycystic ovaries, Abnormality of the ureter, Cleft palate, Renal... ORPHA:1770
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, 2-3 toe syndactyly, Ectopic k... OMIM:239800
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Microphallus, Abnormal thumb morphology, Kyphosis, Brachydactyly, Clin... ORPHA:94065
Focal Dermal Hypoplasia
Scoliosis, Cryptorchidism, Short metatarsal, Congenital hip dislocation, Short phalanx of finger,... OMIM:305600
Jacobsen Syndrome
Scoliosis, Cryptorchidism, Pes planus, Broad hallux phalanx, Death in infancy, Intestinal malrota... ORPHA:2308
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Penile hypospadias, Cryptorchidism, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
Cerebrocostomandibular Syndrome
Scoliosis, Horseshoe kidney, Congenital hip dislocation, Anal stenosis, Gastroesophageal reflux, ... OMIM:117650
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Polyc... OMIM:617866
Fryns Syndrome
Cryptorchidism, High palate, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacol... ORPHA:2059
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Camptodactyly, Hydronephrosis, Clinodactyly of the 5th finger OMIM:179613
C Syndrome
Cryptorchidism, Dislocated radial head, Horseshoe kidney, Hand polydactyly, Toe syndactyly, High ... ORPHA:1308
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Preaxial hand polydactyly, Camptodactyly of finger, Toe synd... ORPHA:261344
Genitopalatocardiac Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Multicystic kidney dysplasia, Go... ORPHA:2075
Bresek Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasi... ORPHA:85284
Marden-Walker Syndrome
Scoliosis, Hydroureter, Metatarsus adductus, Epispadias, Renal hypoplasia/aplasia, Abnormality of... ORPHA:2461
Seckel Syndrome 2
Hypospadias, Clinodactyly of the 5th finger, Ectopic kidney, Microglossia OMIM:606744
Campomelic Dysplasia
Scoliosis, Ambiguous genitalia, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Ky... ORPHA:140
Charge Syndrome
Scoliosis, Cryptorchidism, Hemivertebrae, Absent radius, Short thumb, Hypoplastic male external g... OMIM:214800
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Spina bifida, Camptodactyly OMIM:211960
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Nail-Patella Syndrome
Scoliosis, Hematuria, Pes planus, Renal insufficiency, Quadriceps aplasia, Patellar aplasia, Clef... OMIM:161200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Camptodactyly of finger, 2-5 finger syndactyly, Microphallus, Abnormal renal coll... ORPHA:468631
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Death in infancy, Anteriorly placed anus, Anal atresia, Hydronephrosi... ORPHA:2315
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Genu valgum, Abnormality of tibia morphology, Abnormality of femur morph... ORPHA:2496
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Acrorenal-Mandibular Syndrome
Narrow palate, Split hand, Hemivertebrae, Bicornuate uterus, High palate, Hypoplasia of the radiu... OMIM:200980
Meckel Syndrome 12
Rocker bottom foot, Renal hypoplasia, Ureteral hypoplasia, Vaginal atresia, Bifid uvula, Renal ag... OMIM:616258
Otopalatodigital Syndrome Type 2
Scoliosis, Ureteral obstruction, Short hallux, Camptodactyly of finger, Tarsal synostosis, Fibula... ORPHA:90652
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Nager Syndrome
Hypoplasia of the radius, Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Cleft pala... ORPHA:245
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Large hands, Abnormalit... ORPHA:3219
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Renal hypoplasia, Kyphosis, High palate, G... OMIM:609029
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal vagina morphology ORPHA:2123
Trisomy 17P
Scoliosis, Macroglossia, Urethral valve, Urethral stenosis, Clinodactyly of the 5th finger, Cleft... ORPHA:261290
Orofaciodigital Syndrome Xv
Broad hallux, Hydronephrosis, Postaxial polydactyly, Lobulated tongue OMIM:617127
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebral morphology,... OMIM:276950
Interstitial Cystitis
Abnormality of the menstrual cycle, Pollakisuria, Abnormal vagina morphology, Nocturia, Urinary b... ORPHA:37202
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Syndactyly, Ectopic kidney, R... OMIM:181510
Hyperlordosis, Rocker bottom foot, Spina bifida, Talipes equinovarus, Holoprosencephaly, Rhizomel... ORPHA:63259
Meier-Gorlin Syndrome 7
Scoliosis, Cryptorchidism, Anal stenosis, Clitoral hypertrophy, Preaxial polydactyly, 2-3 toe syn... OMIM:617063
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Cleft palate, Vertebral segmentation defect, Deviat... ORPHA:1104
Mosaic Trisomy 8
Scoliosis, Cryptorchidism, Camptodactyly of finger, High palate, Clinodactyly of the 5th finger, ... ORPHA:96061
Imagawa-Matsumoto Syndrome
Cryptorchidism, Camptodactyly, Long foot, Large hands, Umbilical hernia, Clinodactyly, Anteriorly... OMIM:618786
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Adducted thumb, Decreased fibular diameter, Fractured radius, Hydrone... OMIM:616897
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Urethral valve, Hepatocellular carcinoma, Abnormality of ... OMIM:180860
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Cryptorchidism, Microphallus, Renal hypoplasia, Scrotal hypoplasia, Umbilical hernia, ... OMIM:618454
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... OMIM:603546
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hyperlordosis, Clinodactyly of the 4th finger, Gastroesophageal reflux, Recurrent urinary tract i... ORPHA:221139
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Camptodactyly, High palate, High, narrow palate, Metatarsus adductus, Hydronephro... OMIM:612513
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Short neck, Ectrodactyly, H... ORPHA:2879
Charge Syndrome
Scoliosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of tibia... ORPHA:138
Zellweger Syndrome
Cryptorchidism, Epiphyseal stippling, Clitoral hypertrophy, High palate, Death in infancy, Pylori... ORPHA:912
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Aplasia/Hypoplasia involving the pelvis, Multicystic kidney dysplasia, Abnormally... ORPHA:3301
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Cryptorchidism, Rocker bottom foot, Postaxial hand polydactyly, Duplicated c... OMIM:301056
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Abnormal vagina morphology, Decreased testicular size, Abnormality of ... ORPHA:813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size, Micropenis OMIM:615287
Pagod Syndrome
Abnormal morphology of female internal genitalia, Spina bifida, Arrhythmia, Abnormality of the ut... ORPHA:991
Townes-Brocks Syndrome
Cryptorchidism, Broad thumb, Broad hallux phalanx, Partial duplication of thumb phalanx, Rectovag... ORPHA:857
Baller-Gerold Syndrome
Scoliosis, Bowing of the long bones, Aplasia/Hypoplasia of the radius, Abnormal localization of k... ORPHA:1225
Melnick-Needles Syndrome
Scoliosis, Anisospondyly, Bowing of the long bones, Short distal phalanx of finger, Osteolytic de... ORPHA:2484
Cerebrocostomandibular Syndrome
Spina bifida, Kyphosis, Death in infancy, Multicystic kidney dysplasia, Meningocele, Clinodactyly... ORPHA:1393
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Cryptorchidism, Bifid distal phalanx of toe, Broad thumb, Clitoral... OMIM:268310
22Q11.2 Duplication Syndrome
Scoliosis, Urethral stenosis, Hydronephrosis, Cleft palate, Displacement of the urethral meatus ORPHA:1727
Fraser Syndrome
Cryptorchidism, Scrotal hypoplasia, Death in infancy, Vaginal atresia, Bicornuate uterus, High pa... ORPHA:2052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Cryptorchidism, Chordee, Polydactyly, Recurrent urinary tract infections, Short 5th to... ORPHA:268261
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Hypoplasia of the ulna, Neonatal death, Syndactyly, Renal cyst OMIM:228940
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Urethral diver... ORPHA:95706
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele, Nephroblastoma OMIM:235000
Kabuki Syndrome
Scoliosis, Cryptorchidism, Crossed fused renal ectopia, Duplicated collecting system, Hemivertebr... ORPHA:2322
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, High palate, Posta... OMIM:614091
Bardet-Biedl Syndrome
Cryptorchidism, Postaxial hand polydactyly, Finger syndactyly, Multicystic kidney dysplasia, Neph... ORPHA:110
Micro Syndrome
Scoliosis, Cryptorchidism, Kyphosis, Abnormal localization of kidney, Clitoral hypoplasia, Hypopl... ORPHA:2510
Pseudoaminopterin Syndrome
Cryptorchidism, Clubbing of fingers, Hip subluxation, Horseshoe kidney, Short 4th metacarpal, Ove... ORPHA:221120
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Short phalanx of finger, High palate, Cone-shaped epiphysis, Neph... OMIM:266920
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Lower limb undergrowth, Anal atres... ORPHA:2310
Ulnar-Mammary Syndrome
Cryptorchidism, Absent hand, Abnormality of the uterus, Postaxial hand polydactyly, Abnormality o... ORPHA:3138
Intellectual Disability, Buenos-Aires Type
Cuboid-shaped thoracolumbar vertebral bodies, Umbilical hernia, Hydronephrosis, High palate, Clin... ORPHA:3079
Trisomy 18
Cryptorchidism, Spina bifida, Abnormal morphology of female internal genitalia, Narrow palate, Po... ORPHA:3380
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Kennerknecht Syndrome
Toe syndactyly, High palate, Hypoplasia of the uterus, Thoracolumbar scoliosis, Acetabular dyspla... OMIM:600908
Genitopatellar Syndrome
Cryptorchidism, Radioulnar synostosis, Hypoplastic ilia, Scrotal hypoplasia, Gastroesophageal ref... ORPHA:85201
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Aganglionic megacolon, Meningocele, Cleft palate ORPHA:894
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Hydroureter,... OMIM:305620
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Short neck, Cervical spina bifida, Male pseudohermaphroditism OMIM:600122
Hajdu-Cheney Syndrome
Foot acroosteolysis, Cryptorchidism, Genu valgum, Dislocated radial head, Biconcave vertebral bod... OMIM:102500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Death in infancy, Talipes equ... ORPHA:1120
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormal renal morphology, Abnormality of the uterus, Postaxial hand polydactyly,... ORPHA:1655
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Sex reversal, Hypoplastic sca... OMIM:114290
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Cryptorchidism, Camptodactyly of finger, Hydroureter, Finger syndactyly... ORPHA:568
Gillessen-Kaesbach-Nishimura Syndrome
Short long bone, Bicornuate uterus, Polycystic kidney dysplasia, Narrow greater sciatic notch, Me... OMIM:263210
Joubert Syndrome 7
Scoliosis, Nephronophthisis, Postaxial hand polydactyly, Postaxial polydactyly, Renal cyst OMIM:611560
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Kinsship Syndrome
Scoliosis, Dislocated radial head, Ankyloglossia, Horseshoe kidney, Renal hypoplasia, Polydactyly... OMIM:619297
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Scoliosis, Ureteral triplication, Congenital hip dislocation, Umbilical hernia, Hemivertebrae, Sy... OMIM:104350
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Horseshoe kidney, Abs... OMIM:613630
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia ORPHA:3316
Fryns Syndrome
Cryptorchidism, Camptodactyly, Intestinal malrotation, Short distal phalanx of finger, Bicornuate... OMIM:229850
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Alagille Syndrome
Cryptorchidism, Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Abnormality of the... ORPHA:52
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal chondrodysplasia, Horseshoe kidney, Short distal phalanx of finger, Metaphyseal dyspl... OMIM:250410
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Thakker-Donnai Syndrome
Hemivertebrae, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anal atresia, Hydronephrosi... ORPHA:1780
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, 3-4 toe syndactyly, Short metatarsal, Broad thumb, Pseudoepiphyses ... OMIM:107480
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Esophageal atresia, Anal atresia, Cleft palate, Absent thumb, Short neck, Micro... OMIM:614083
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Hemisacrum, Back pain, Anterior sacral meningocele, Rectal abscess, Meningoce... OMIM:600145
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Hamartoma of tongue, Postaxial polydactyly, Hypoplastic pubic bone, Septate... OMIM:617925
8P23.1 Duplication Syndrome
Toe syndactyly, Hydronephrosis ORPHA:251076
Postaxial Acrofacial Dysostosis
Cryptorchidism, Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Ra... OMIM:263750
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Female infertility, ... ORPHA:99413
Mosaic Monosomy X
Scoliosis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Female infertility, ... ORPHA:99228
Monosomy X
Scoliosis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Female infertility, ... ORPHA:99226
Turner Syndrome
Scoliosis, High urinary gonadotropin level, Gastrointestinal angiodysplasia, Female infertility, ... ORPHA:881
Roifman-Chitayat Syndrome
Short metatarsal, Cone-shaped epiphysis, Umbilical hernia, Ectopic kidney, Short metacarpal, Shor... OMIM:613328
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Isolated Polycystic Liver Disease
Multiple renal cysts, Back pain, Gastroesophageal reflux, Gastrointestinal hemorrhage ORPHA:2924
Distal Trisomy 15Q
Cryptorchidism, Camptodactyly of finger, Anal atresia, Abnormality of female external genitalia, ... ORPHA:1707
Bor Syndrome
Renal insufficiency, Branchial cyst, Multicystic kidney dysplasia, Ureteropelvic junction obstruc... ORPHA:107
Apert Syndrome
Cryptorchidism, Humeroradial synostosis, Postaxial hand polydactyly, Preaxial hand polydactyly, N... OMIM:101200
Coffin-Siris Syndrome
Scoliosis, Cryptorchidism, Horseshoe kidney, Clinodactyly, Hypospadias, Short 5th finger, Hepatob... ORPHA:1465
Cornelia De Lange Syndrome 1
Cryptorchidism, Vesicoureteral reflux, Phocomelia, High palate, Hypoplastic male external genital... OMIM:122470
Tetrasomy 9P
Cryptorchidism, Median cleft lip and palate, Multiple renal cysts, Horseshoe kidney, Infertility,... ORPHA:3310
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Distal urethral duplication, Ectopic anus, Vesicoureteral reflux, Apla... ORPHA:2549
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Dysphagia, Testicular atrophy, Hydronephrosis, Limited mobility ... OMIM:222300
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Penile Agenesis
Unilateral renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Hydroureter, Bilateral renal ag... ORPHA:49
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Crossed fused renal ectopia, Toe syndactyly, R... ORPHA:3258
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Cryptorchidism, Narrow palate, Kyphosis, Hydronephrosis, Micropenis ORPHA:364028
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of... ORPHA:873
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Vaginal fistula, Hemivertebrae, Persistent cloaca, Abnormality... ORPHA:1112
Pseudotrisomy 13 Syndrome
Cryptorchidism, Median cleft lip and palate, Postaxial hand polydactyly, Renal hypoplasia, 2-3 to... OMIM:264480
Chiari Malformation Type Ii
Spina bifida, Dysphagia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Urogenital sinus anomaly, Aplasia of the ovary, Azoospermia, B... ORPHA:90797
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Horseshoe kidney, Long penis, Stillbirth, Clitoral hypertrophy, High palate, Abno... OMIM:268300
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Abnormality of the urethra, Male pseudohermaphr... ORPHA:752
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Hand oligodactyly, Hydronephrosis, Cleft palate, Absent thumb, High pal... OMIM:602418
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology, Abnormality of the gastrointestinal tract,... ORPHA:3440
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Symphalangism affecting the phalanges of the hand, Abnormal... ORPHA:2547
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Diastomatomyelia, Intestinal malrotation, Meningocele, Duodenal stenosis ORPHA:1759
Mosaic Trisomy 1
2-3 finger syndactyly, Penile hypospadias, Rocker bottom foot, Camptodactyly of finger, Renal cor... ORPHA:1692
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Postaxial hand polydactyly, Death in infancy, Protein-losing enteropathy, Hydrone... OMIM:235255
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Intestinal malrotation, Vaginal atresia, Vesicou... OMIM:612726
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Sacral dimple, Hydronephrosis, Short neck ORPHA:1745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Death in infa... ORPHA:2241
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia ORPHA:3032
8P Inverted Duplication/Deletion Syndrome
Scoliosis, Cryptorchidism, Abnormality of the urinary system, High, narrow palate, Clinodactyly o... ORPHA:96092
Carey-Fineman-Ziter Syndrome
Scoliosis, Glandular hypospadias, Aplasia/Hypoplasia of the tongue, Cleft palate, Hydronephrosis,... ORPHA:1358
Leg, Absence Deformity Of, With Congenital Cataract
Scoliosis, Anal atresia, Abnormality of the lower limb, Duplication involving bones of the feet OMIM:246000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Hydrocele testis, Anal stenosis, Gastroesophageal reflux, Bladder trab... OMIM:614080
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Spina bifida, Plantar pits, Polydactyly, Hemivertebrae, Vertebra... OMIM:109400
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis, Abnormality of the metacarpal bones, Abnormal distal p... ORPHA:2673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Macroglossia, Branchial anomaly, Abnormality of the gas... ORPHA:453499
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Renal agenesis, Congenital hip dislocation... OMIM:308050
Renal Hypodysplasia/Aplasia 1
Primary amenorrhea, Renal dysplasia, Vaginal atresia, Bicornuate uterus, Renal agenesis, Proteinuria OMIM:191830
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Hip subluxation, Horseshoe kidney, Abnormal vertebral morphology, High palate, Gast... ORPHA:444077
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Vaginal stricture, Abnormality of the urinary system, Esophageal s... ORPHA:79409
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Overlapping toe, Camptodactyly, Unilateral renal agenesis, Clinodactyly, Hydronephrosi... ORPHA:487796
Simpson-Golabi-Behmel Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Congenital hip dislocation, Hydroureter, Death in infancy... ORPHA:373
Abruzzo-Erickson Syndrome
Cryptorchidism, Short toe, Toe syndactyly, Radioulnar synostosis, Abnormal localization of kidney... ORPHA:921
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Polydactyly, Short middle pha... OMIM:617926
Isolated Osteopoikilosis
Ectopic kidney ORPHA:166119
Trisomy 8Q
Cryptorchidism, Camptodactyly of finger, Myelomeningocele, Bifid tongue, Cleft palate, High palat... ORPHA:1752
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd fing... ORPHA:93320
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal agenesis, Radioulnar synostosis, Toe syndactyly, Renal hypoplasia, Bowing o... ORPHA:171839
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Autosomal Recessive Robinow Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Split hand, Broad hallux phalanx, Death in infancy, Sanda... ORPHA:1507
Renpenning Syndrome
Abnormal thumb morphology, Decreased testicular size, Anal atresia, Cleft palate, Hypospadias, Hi... ORPHA:3242
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hydroureter, Scrotal hypoplasia, Short distal phalanx of finger,... OMIM:269150
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Low back ... ORPHA:49041
Noonan Syndrome 4
Scoliosis, Cryptorchidism, Hydronephrosis, Ureteral duplication, Short neck OMIM:610733
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Abnormal form of the vertebral bodies, Finger syndactyly, Abno... ORPHA:3429
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis, Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Cleft palate, Abnormality of the urethra, Abnormality of the upper... ORPHA:2145
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Sandal gap, Metatarsus adductus, Spina bifida occulta, Hi... ORPHA:235
Frontometaphyseal Dysplasia
Scoliosis, Short metatarsal, Short phalanx of finger, Broad thumb, Short distal phalanx of finger... ORPHA:1826
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis, Nephropathy ORPHA:3033
Fanconi Anemia, Complementation Group F
Cryptorchidism, 2-3 finger syndactyly, Hypoplasia of the radius, Microphallus, Renal hypoplasia, ... OMIM:603467
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Umbilical hernia, Hydrone... OMIM:619218
Kleefstra Syndrome
Scoliosis, Cryptorchidism, Macroglossia, Gastroesophageal reflux, Vesicoureteral reflux, Renal cy... ORPHA:261494
Toluene Embryopathy
Cryptorchidism, Tapered finger, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
High, narrow palate, Distal urethral duplication OMIM:277465
Hand polydactyly, Congenital finger flexion contractures, Septate vagina, Urinary incontinence, S... OMIM:114150
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosi... OMIM:615926
Opitz Gbbb Syndrome
Cryptorchidism, Ankyloglossia, Bifid scrotum, Enlarged ovaries, Dysphagia, High palate, Abnormali... ORPHA:2745
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Renal cyst, Cleft palat... OMIM:614866
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Nephropathy, Multicystic kidney dysplasia ORPHA:1909
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Cockayne Syndrome Type 3
Scoliosis, Neurogenic bladder, Hydroureter, Renal hypoplasia, Kyphosis, Gastroesophageal reflux, ... ORPHA:90324
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Renal cyst OMIM:614465
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Anal atresia, Neural tube defect OMIM:119580
Blackfan-Diamond Anemia
Triphalangeal thumb, Adenocarcinoma of the colon, Horseshoe kidney, Renal agenesis, High palate, ... ORPHA:124
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Scoliosis, Cryptorchidism, Overlapping toe, 2-3 toe syndactyly, Tapered finger, Vesicoureteral re... OMIM:618653
Zttk Syndrome
Scoliosis, Horseshoe kidney, Kyphosis, Unilateral renal agenesis, Polyuria, Hemivertebrae, Small ... OMIM:617140
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Lumbosacral meningocele, Nephroblastomatosis, Enlarged kidney, Nephrogenic rest, Cystic renal dys... OMIM:608022
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Campomelia, Cumming Type
Multiple renal cysts, Bowing of the long bones, Death in infancy, Multicystic kidney dysplasia, A... ORPHA:1318
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly, Cleft palate OMIM:236110
Floating-Harbor Syndrome
Cryptorchidism, Nephrocalcinosis, Cone-shaped epiphyses of the phalanges of the hand, Epididymal ... OMIM:136140
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Clubbing of fingers, Hamartomatous poly... OMIM:175200
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Methylmalonic aciduria, Unilateral renal agenesis, Cleft palate ORPHA:79284
Joubert Syndrome 20
Syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Ambiguous genitalia, Macroglossia, Gastroesophageal reflux, Recurrent urinary tra... ORPHA:847
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Squared iliac bones, Hypoplastic pelvis, Renal hypoplasia, P... OMIM:616300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Toe syndactyly, Finger syndactyly, Multicystic kidney dysplasia, Intestinal pseud... ORPHA:73246
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Scoliosis, Hypoplasia of the ulna, Hypercalciuria, Renal cyst, Ureteral stenosis, High palate, Ne... OMIM:615398
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Cartilage-Hair Hypoplasia