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Gene: Dact1 MGI:1891740

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... OMIM:617466
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sirenomelia
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... ORPHA:3169
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Absent external genitalia, Short neck, Hemivertebrae, Urethral... OMIM:271520
Chromosome 17Q12 Deletion Syndrome
Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Uret... OMIM:614527
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V... OMIM:618845
Renal Agenesis, Bilateral
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... ORPHA:1848
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Hemivertebrae, Horseshoe kidney, Vaginal fistula, Anal atresia OMIM:619318
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... OMIM:146255
Cloacal Exstrophy
Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Hemivertebrae, Abnormality of the... ORPHA:93929
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus... OMIM:601076
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, H... ORPHA:2319
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... ORPHA:2473
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial poly... OMIM:614815
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Azoospermia, Vertebral segmentation defect, Bicornuat... ORPHA:2578
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Hypospadias, Short neck, Abnormal tibia morphology, Abnormality of the ureter ORPHA:2487
Mckusick-Kaufman Syndrome
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic mega... OMIM:236700
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,... ORPHA:3109
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Cleft palate, Ect... ORPHA:2345
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Aplasia of the vag... ORPHA:457284
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s... ORPHA:3320
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypoplasia, Anteriorly pl... OMIM:617661
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, 2-3 toe syndactyly, Horseshoe kidney, High palate, Scoliosis, Hypoplastic male ex... ORPHA:502434
Macdermot-Winter Syndrome
Camptodactyly of finger, Death in infancy, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia... OMIM:618494
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Spina bifida, Short neck, Camptodactyly... ORPHA:99776
Diphallia
Bifid scrotum, Ureteral duplication, Epispadias, Hemivertebrae, Ectopic scrotum, Duplicated colon... ORPHA:227
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... ORPHA:887
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... OMIM:615989
Mulchandani-Bhoj-Conlin Syndrome
Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly OMIM:617352
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... OMIM:613390
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P... OMIM:618142
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgen... ORPHA:3306
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Cleft... ORPHA:1926
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... ORPHA:3027
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k... OMIM:216100
Currarino Syndrome
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar... OMIM:176450
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Short neck, Abnormality of the ureter, Tracheoesophageal fistula, Renal... ORPHA:1834
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... OMIM:600057
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, Short neck, 2-3 toe syndactyly, Horseshoe kidney, Short foot, Micropenis OMIM:300860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Primary a... OMIM:244200
Czeizel-Losonci Syndrome
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin... ORPHA:2437
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, H... OMIM:615982
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... OMIM:613680
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Abnormality of the vertebral col... ORPHA:294975
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Arachnodactyly, Kyphosis, Dilatation of t... ORPHA:314588
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... ORPHA:281090
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif... OMIM:607323
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Hemivertebrae, Holoprosencephaly, Micropenis, Bifid uvula, Aplasia... ORPHA:672
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp... ORPHA:83628
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... ORPHA:573278
Doors Syndrome
Abnormal finger morphology, Hemivertebrae, Nephrocalcinosis, High palate, Gastroesophageal reflux... ORPHA:79500
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Aortic valve stenosis, A... ORPHA:3097
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Mosaic Variegated Aneuploidy Syndrome 3
Cleft palate, Nephroblastoma, Horseshoe kidney OMIM:617598
Oeis Complex
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... OMIM:258040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Unilateral renal agenesis, Camptodactyly of finger... OMIM:619951
Trisomy 20P
Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Finger syndacty... ORPHA:261318
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Pelvis-Shoulder Dysplasia
Syndactyly, Ambiguous genitalia, Lumbar hyperlordosis, Camptodactyly of finger, Spina bifida, Apl... ORPHA:2839
Short Stature, Brussels Type
Delayed epiphyseal ossification, Horseshoe kidney ORPHA:2867
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Vertebral segmentation defect, Multiple r... ORPHA:1166
Emanuel Syndrome
Recurrent urinary tract infections, Sacral dimple, Congenital hip dislocation, Intestinal malrota... OMIM:609029
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... OMIM:615709
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves... OMIM:617271
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Axial malrotation of the kidn... OMIM:274000
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Femoral-Facial Syndrome
Short femur, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Ab... ORPHA:1988
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Fetal Encasement Syndrome
Upper limb undergrowth, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Low... OMIM:613630
Ssr4-Cdg
Scoliosis, Horseshoe kidney ORPHA:370927
Schisis Association
Encephalocele, Renal agenesis, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, ... ORPHA:63862
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Unilateral renal agenesis, Kyphoscoliosis, Cryptorchid... ORPHA:96170
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Horseshoe kidne... OMIM:248340
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney OMIM:218350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate, Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... ORPHA:64754
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... ORPHA:95699
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Scoliosis, Deviati... OMIM:616362
Chopra-Amiel-Gordon Syndrome
Cleft palate, Scoliosis, Unilateral renal agenesis OMIM:619504
Diaphanospondylodysostosis
Short neck, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or m... ORPHA:66637
Distal Deletion 10Q
Prominent fingertip pads, Lumbar hyperlordosis, Sandal gap, Tapered finger, 2-3 toe cutaneous syn... ORPHA:96148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Ectopic kidney, Cryptorchidism, Rectal prolapse, Small hand, Horseshoe kidney, Narrow... OMIM:235510
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re... OMIM:617666
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... OMIM:606408
Braddock Syndrome
Unilateral renal agenesis, Short neck, Preaxial hand polydactyly, Hemivertebrae, Scoliosis ORPHA:52047
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Spina bifida, Supernumerary vertebrae OMIM:193500
Combined Oxidative Phosphorylation Deficiency 32
Death in infancy, Kyphoscoliosis, Horseshoe kidney OMIM:617664
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, High palate, Scoliosis, Hydronephrosis OMIM:618578
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Cryptorchidism, Hypogonadism, Hydronephrosis ORPHA:85173
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, High palate, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorchidism, Kyphosis, Sc... OMIM:619797
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:618504
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger,... ORPHA:2311
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis, Hip dislocation, Horseshoe kidney ORPHA:101003
Acces Syndrome
Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, Hip dysplasia, Split foot, Ectrodac... OMIM:619959
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndac... OMIM:236500
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... ORPHA:2538
Acalvaria
Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly ORPHA:945
Ophthalmoplegia, External, And Myopia
Absent patellar reflexes, Spina bifida, Absent Achilles reflex OMIM:311000
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Anal atresia, Hydroureter, Toe syndactyly, Septate vagina, Valvular pu... OMIM:300707
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Cleft palate, Scoliosis, Cervic... OMIM:118100
Tetrasomy 15Q26
Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, High palate, Camptodactyly, Hydronephrosis OMIM:614846
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Hypospadias, Postaxial polydactyly, Postaxial hand polyda... OMIM:614175
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polydacty... OMIM:615996
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atre... OMIM:115470
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal... OMIM:609945
3Mc Syndrome 2
Hypospadias, Cryptorchidism, Hip dislocation, Horseshoe kidney, Cleft palate, Radioulnar synostos... OMIM:265050
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,... ORPHA:2470
Trisomy 13
Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormality of the ureter, High, narrow pal... ORPHA:3378
Meckel Syndrome, Type 6
Occipital encephalocele, Abnormal internal genitalia, Postaxial hand polydactyly, Anencephaly, Re... OMIM:612284
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Cleft palate, Polydactyly, Polycystic kidney ... OMIM:613885
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal s... OMIM:101800
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Bifid distal phalanx of the thumb, Pyloric stenosis, Hypoplastic labia... OMIM:618419
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the radius, Renal... OMIM:609053
Proteus Syndrome
Pulmonary embolism, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bodies... ORPHA:744
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hypoplasia of the radius, Ho... ORPHA:140952
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Kyphoscoliosis, Tapered finger, Cryptorchidism, Slender finger, Functional abn... ORPHA:2953
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Hydronephrosis, Anal at... ORPHA:195
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Renal malrotation, Congenital hip dislocation, Intestinal malr... OMIM:113650
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis... OMIM:308750
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach... OMIM:619227
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi... ORPHA:3409
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo... ORPHA:959
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hamartoma of tongue, Aganglionic me... OMIM:174300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper... OMIM:308700
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... OMIM:602200
Meckel Syndrome, Type 9
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Verheij Syndrome
Branchial cyst, Vertebral fusion, Renal agenesis, Short neck, Hemivertebrae, Renal hypoplasia, Re... OMIM:615583
Mosaic Trisomy 16
Syndactyly, Hypospadias, Large placenta, Short thumb, Horseshoe kidney, Anteriorly placed anus, S... ORPHA:1708
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Arachnodactyly, Coxa valga, Cryptorchidism, Metaphyseal widening, Hip dislocation, H... OMIM:620083
3Q29 Microdeletion Syndrome
Hypospadias, Tapered finger, Horseshoe kidney, High palate, Six lumbar vertebrae, Clinodactyly of... ORPHA:65286
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney OMIM:617406
Vacterl With Hydrocephalus
Absence of the sacrum, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosi... ORPHA:3412
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Kyphoscoliosis, Precocious puberty, Abnormal toe morphology, Abnormal finger m... OMIM:163200
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... ORPHA:2973
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus ORPHA:2476
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Hypertelorism-Microtia-Facial Clefting Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate ORPHA:2213
12Q14 Microdeletion Syndrome
Intestinal malrotation, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Scoliosis, Clinodacty... ORPHA:94063
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, High ... OMIM:201000
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
1Q44 Microdeletion Syndrome
Intestinal malrotation, Horseshoe kidney, High palate, Scoliosis, Vesicoureteral reflux ORPHA:238769
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Sacral dimple, Camptodactyly of finger, Spina bifid... ORPHA:1327
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Esophagea... OMIM:614083
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Hip dysplasia, Vertebral segmentation defect, Polydac... ORPHA:531151
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th... ORPHA:508498
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... OMIM:617641
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... OMIM:216360
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Hor... OMIM:619103
Lathosterolosis
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Postaxial hand polydacty... ORPHA:46059
Odontochondrodysplasia 1
Death in infancy, Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widenin... OMIM:184260
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Cryptorchidism, Kyphosis, Sp... ORPHA:1724
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... ORPHA:2438
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethra... OMIM:100100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H... ORPHA:2237
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Renal cyst OMIM:614870
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:227645
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Cleft palate, 2-3 toe syndactyly, Bifid uvula OMIM:608572
Focal Dermal Hypoplasia
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Spina b... ORPHA:2092
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... OMIM:314390
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Sy... OMIM:146510
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phala... ORPHA:508533
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum... OMIM:192350
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Metaphyseal chondrodysplasia, Cryptorchidism, Renal cyst, Horses... ORPHA:166035
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Aplasia of... OMIM:617088
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1046
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Ureterovesic... ORPHA:314585
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Spina bifida, Camptodactyly OMIM:211960
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal placement of thumb, Tapered fin... OMIM:616737
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Hypospadias, Precocious puberty, Cryptorchidism, High, narrow palate, Horseshoe kidne... ORPHA:96182
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Fanconi Anemia
Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal thumb, Clinodact... ORPHA:84
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Cryptorchi... ORPHA:464311
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Hip dysplas... OMIM:614576
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... OMIM:227650
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cy... OMIM:270400
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Horseshoe kidney, Cutaneous ... OMIM:311900
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Intestinal malrotation, Sh... ORPHA:7
Cousin Syndrome
Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, ... OMIM:260660
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst OMIM:231060
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t... OMIM:212780
Joubert Syndrome 37
Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, High palate, Micrope... OMIM:619185
Diamond-Blackfan Anemia 7
Short thumb, Horseshoe kidney, Cleft palate, Scoliosis, Triphalangeal thumb, Vesicoureteral reflu... OMIM:612562
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor... ORPHA:3411
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Talipes, Submucous cleft hard palate, Renal hypoplasia, Spi... OMIM:617660
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... OMIM:617466
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Cryptorchi... ORPHA:464306
Nail-Patella Syndrome
Back pain, Patellar hypoplasia, Clinodactyly of the 5th finger, Absent distal interphalangeal cre... OMIM:161200
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Hemivertebrae, Cleft palate, Hydronephrosis, Anal atresia OMIM:220210
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hydronephrosis, Gonadal dy... OMIM:154230
15q26 overgrowth syndrome
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Short neck, Tapered finger, ... DECIPHER:81
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Cryptorchidism, Horseshoe kidney, C... ORPHA:2886
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Chronic gastritis, Thoracolumbar scoliosis, Myocardial infarction, ... OMIM:150230
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Shashi-Pena Syndrome
Short metacarpal, Unilateral renal agenesis, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... OMIM:611560
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Short neck, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Abnormal ... ORPHA:247768
Phakomatosis Pigmentokeratotica
Spina bifida, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Renal transitional cell car... ORPHA:2874
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Renal cyst OMIM:174050
Teebi-Shaltout Syndrome
Syndactyly, Ureteral stenosis, Rocker bottom foot, Metatarsus adductus, High, narrow palate, Hors... OMIM:272950
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... OMIM:605231
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... ORPHA:140976
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Fanconi Anemia, Complementation Group P
Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney OMIM:613951
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea, Hip dysplasia, Clin... ORPHA:3375
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Short neck, Cryptorchidism, Hydronep... ORPHA:2083
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Myelomeningocele, Scoliosis, Pulmonic stenosis, Facial telangiectasia, Contracture... OMIM:620141
Radial-Renal Syndrome
Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Chops Syndrome
Cryptorchidism, High, narrow palate, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vert... OMIM:616368
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... ORPHA:2308
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydronephrosis, Short neck ORPHA:251046
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Anophthalmia Plus Syndrome
Spina bifida, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Vertebral segmen... ORPHA:1104
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hip contracture, High palate, Hydronephrosis ORPHA:85285
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:600901
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Abnorma... ORPHA:3219
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Broad distal phalanx of the ... OMIM:619194
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... OMIM:227646
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anteriorly placed anus, Rectovagin... OMIM:608980
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Toe syndactyly, Jejunal atresia, Abnormality of the kidney,... ORPHA:391641
Lathosterolosis
Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Horseshoe ... OMIM:607330
Koolen-De Vries Syndrome
Ureteral duplication, Vertebral fusion, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Hi... ORPHA:96169
Oligomeganephronia
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal corte... ORPHA:2260
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microglossia, Hypospadias, Ectopic kidney OMIM:606744
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Iniencephaly
Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Rocker bottom foot, Hyperlordosis, Myelo... ORPHA:63259
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th... ORPHA:1120
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Short neck, Kyphoscoliosis, Cryptorchidism, Delayed menar... OMIM:151100
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short neck, Tapered finger, Urethral stenosis, Cleft palate,... ORPHA:261290
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Proximal placement of thumb, Short neck, Hemivert... OMIM:261540
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th ... OMIM:239800
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Abnormality of the cervi... OMIM:154400
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Hypospa... OMIM:611209
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal sho... ORPHA:2115
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Umbi... ORPHA:1035
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Hip dislocation, Unilateral renal agenesis, Adducted thumb OMIM:616603
Meacham Syndrome
Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... OMIM:608978
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... ORPHA:991
C Syndrome
Death in infancy, Multicystic kidney dysplasia, Sacral dimple, Toe syndactyly, Renal hypoplasia/a... ORPHA:1308
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Ovarian cyst, Short lo... OMIM:618188
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Hydronephrosis OMIM:179613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal dy... ORPHA:1770
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Toe syndactyly, Camptodactyly of fin... ORPHA:261344
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... OMIM:305600
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, H... ORPHA:568
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Cryptorchidism, Long fingers, ... ORPHA:96121
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Lobulated tongue, Hyd... OMIM:617127
Intellectual Developmental Disorder, X-Linked 99
Broad hallux, Hypospadias, Broad thumb, Ectopic kidney OMIM:300919
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Ectopic kidney, Cryptorchidism, Short thumb, Dislocated radial head, Brac... ORPHA:401935
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Anteriorly place... OMIM:201750
Waardenburg Syndrome Type 1
Aganglionic megacolon, Spina bifida, Meningocele, Cleft palate, Scoliosis ORPHA:894
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Spina bifida, Kyphosis, Myelomeningocele, Meningo... ORPHA:1393
Acrorenal-Mandibular Syndrome
Hemivertebrae, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Bicornuat... OMIM:200980
Trisomy 18
Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, Ab... ORPHA:3380
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Short neck, Renal cyst, Anteriorly placed anus, Campto... OMIM:601803
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Clinodactyly, Renal hypoplasia, Microp... OMIM:616541
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Hip dysplasia, Rectovaginal fistula, Hydro... OMIM:619426
Johanson-Blizzard Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, An... ORPHA:2315
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Unilat... OMIM:213980
Meckel Syndrome 12
Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula,... OMIM:616258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Hypospadias, Fractured radius, Short neck, Decreased fibular diameter, Flared metaph... OMIM:616897
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Sacral dimple, Toe syndactyly, Camptodactyly of finger, Unilateral renal agene... ORPHA:261337
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Hypoplasia of the radius, Cleft palat... ORPHA:245
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, ... ORPHA:2075
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... ORPHA:140
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... OMIM:619762
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morphology, Multic... ORPHA:2461
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Short n... ORPHA:2059
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Isolated Polycystic Liver Disease
Back pain, Multiple renal cysts ORPHA:2924
Joubert Syndrome 16
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
22Q11.2 Duplication Syndrome
Urethral stenosis, Cleft palate, Scoliosis, Displacement of the urethral meatus, Hydronephrosis ORPHA:1727
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the humerus, Abnormal foot mor... ORPHA:2496
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Kinsship Syndrome
Death in infancy, Sacral dimple, Short neck, Coxa valga, Hip dislocation, Renal hypoplasia, Horse... OMIM:619297
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... OMIM:180860
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... ORPHA:2091
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ... ORPHA:2484
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism,... ORPHA:110
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bi... OMIM:613776
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Abnormal localization of... ORPHA:2510
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Post... ORPHA:85284
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis... OMIM:301040
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Patellar hypoplasia, Femoral bowin... OMIM:114290
Amish Lethal Microcephaly
Death in infancy, Organic aciduria, Cleft soft palate, Spina bifida ORPHA:99742
Mosaic Trisomy 8
Decreased testicular size, Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia,... ORPHA:96061
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Rocker bottom foot, Coxa valga, Cryptorchidism, Postax... OMIM:301056
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Cryptorch... ORPHA:468631
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb... OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Hamartoma of tongue, Cryptorchidism, Squared iliac bones, P... OMIM:616300
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Cryptorchidism, Aplasia/Hypoplasia i... ORPHA:3301
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dysphagia OMIM:207950
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Postaxial polydactyly, Cryptorchidism, Short thumb, Slender finge... ORPHA:221120
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Urethral atresia, Vertebral segmentation defect, High palate,... ORPHA:2052
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia OMIM:274265
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... ORPHA:1225
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Metaphyseal widening, Short long bone, Bicornuate uterus, Narrow greater sciatic notc... OMIM:263210
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... OMIM:617914
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Hypospadi... ORPHA:2322
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Ab... ORPHA:138
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Hydroureter, Hydronephrosis OMIM:618240
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Sandal gap, Precocious puberty, Cryptorchidi... ORPHA:813
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Abnormal pelvic girdle bone morphology, High palate, Clinodactyly of the 5th fing... ORPHA:3079
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial... OMIM:614091
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra... ORPHA:93320
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Spina bifida, Kyphoscoliosis, Hydrocephalus, Plantar pits, Irr... OMIM:109400
Roifman-Chitayat Syndrome
Short metacarpal, Short neck, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Umbilical ... OMIM:613328
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Clinodactyly of the... ORPHA:221139
8P23.1 Duplication Syndrome
Toe syndactyly, Hydronephrosis ORPHA:251076
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h... OMIM:615994
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Kyphosis, Narrow palate, Scoliosis, Micropenis, Hydronephrosis ORPHA:364028
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High palate, Scoliosis,... OMIM:616449
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Block vertebrae, Aqueductal st... OMIM:306955
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Cryptorchidism, Postaxial hand polydactyly, Abnormal renal morphology, High palate, A... ORPHA:1655
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, High, narrow palate, Calcane... OMIM:612513
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... ORPHA:1507
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pylor... ORPHA:912
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Hemivertebrae, High palate, Scoliosis, Umbilical hernia, ... OMIM:104350
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Promine... OMIM:229850
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Radioulnar synostosis, Multicystic kidney dysplasia ORPHA:3270
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Metaphyseal chondrodysplasia, Renal cyst,... OMIM:250410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Transverse vaginal septum, Xerostomia, Anteriorly placed anus, Ureteroce... OMIM:604292
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Neurogenic bladder, Tethered cord, Absence of the sacrum, Hemisacrum, My... OMIM:600145
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili... ORPHA:85201
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Short thumb,... ORPHA:3258
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Hypospadias, Cleft soft palate,... ORPHA:268261
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, High palate, Phocomelia, Syndactyly, Hypoplasia of the ulna, Hypospa... OMIM:268300
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Abnormality of the kidney, Spina bifida, ... ORPHA:2369
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Sacral dimple, Hypoplastic scapulae, Short n... ORPHA:3310
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... ORPHA:107
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Alagille Syndrome
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Abno... ORPHA:52
Kabuki Syndrome 2
Hip dislocation, Horseshoe kidney, Cleft palate, Short 5th finger, High palate, Prominent fingert... OMIM:300867
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Zaki Syndrome
Sacral dimple, Toe syndactyly, Renal agenesis, Long fingers, Ectrodactyly, High palate, Scoliosis... OMIM:619648
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate... ORPHA:99228
Monosomy X
Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate... ORPHA:99226
Turner Syndrome
Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate... ORPHA:881
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Anencephaly, Abnormal f... ORPHA:1590
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 verteb... ORPHA:1780
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... ORPHA:90797
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... ORPHA:3440
Distal Duplication 6P
Sacral dimple, Short neck, Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Small hand, Horseshoe kidney, Fibular hypoplasia, Hypoplasia of proximal radius, Glo... ORPHA:444077
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... OMIM:308205
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Ulnar deviation of finger,... ORPHA:1358
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral... ORPHA:175
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Septate vagina, Short neck, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, ... OMIM:617925
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia OMIM:615397
Charge Syndrome
External genital hypoplasia, Hemivertebrae, Hand monodactyly, Micropenis, Hypoplasia of the ulna,... OMIM:214800
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Vertebral clefting, Renal h... OMIM:616854
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... OMIM:619218
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... ORPHA:873
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin... ORPHA:487796
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Short neck, High, narrow palate, Renal cyst, High pa... OMIM:122470
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi... OMIM:616038
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short me... OMIM:304120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... ORPHA:2241
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa... ORPHA:2745
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft pal... OMIM:602418
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Va... OMIM:191830
Suleiman-El-Hattab Syndrome
Cryptorchidism, Polydactyly, High palate, Clinodactyly, Hydronephrosis, Brachydactyly OMIM:618950
Camptobrachydactyly
Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ... OMIM:114150
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligodactyl... ORPHA:2879
Mosaic Trisomy 1
Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camp... ORPHA:1692
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Crypto... OMIM:263750
8P Inverted Duplication/Deletion Syndrome
Short neck, Precocious puberty, Cryptorchidism, Long fingers, High, narrow palate, Hip dislocatio... ORPHA:96092
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst OMIM:614970
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, High palate, Dislocated radial head, Arachnodactyly, In... OMIM:305620
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Renal hypoplasia, Spinal dysraphis... OMIM:612918
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Gastroesophageal reflux, Abnormality of the uterus, Vesicoureteral... ORPHA:567
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges ... ORPHA:1112
Smith-Magenis Syndrome
Toe syndactyly, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal... ORPHA:819
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Hydroceph... ORPHA:1908
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ... OMIM:601389
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Horseshoe kidney, Short 5th finger, Scoliosis, Clinodactyly ORPHA:1465
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumbar vert... OMIM:102500
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular... ORPHA:49041
Au-Kline Syndrome
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Crypt... OMIM:616580
Cystic Fibrosis
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea ORPHA:586
Koolen-De Vries Syndrome
Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Prominent fingertip pads, Cr... OMIM:610443
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Anteriorly placed anus, High... OMIM:618653
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Cryptorchidism, Unilateral renal agenesis OMIM:620024
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation, Cleft palate, Hy... OMIM:614080
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly,... OMIM:617866
Noonan Syndrome 4
Ureteral duplication, Short neck, Cryptorchidism, Scoliosis, Hydronephrosis OMIM:610733
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Cleft palate, Furrowed tongue, Macroglossia, Branchial anomaly, Vertebral segment... ORPHA:453499
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Cryptorchidism, Triphala... ORPHA:2673
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Hyperlordosis, Small hand, Cleft palate, Anteriorly placed anus, Ca... OMIM:619980
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Renal agenesis, Hypospadias, Cryptorchidism, Renal hypo... ORPHA:171839
Holzgreve Syndrome
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate OMIM:236110
Neurooculorenal Syndrome
Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Short hallux, Crypt... OMIM:620305
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... ORPHA:235
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys... ORPHA:1318
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Micropenis, Ureteral s... OMIM:269150
Fanconi Anemia, Complementation Group F
Sacral dimple, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 finger sy... OMIM:603467
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Short neck, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, High pala... OMIM:235255
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Testicular a... OMIM:222300
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Koolen-De Vries Syndrome Due To A Point Mutation
Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads,... ORPHA:363958
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Tarsal synostosis, Horseshoe kidney, Cone-shaped epiphysis, Fused cervical ver... OMIM:157800
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Apert Syndrome
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... OMIM:101200
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia OMIM:617562
Diamond-Blackfan Anemia
Renal agenesis, Hypospadias, Cleft soft palate, Short neck, Absent thumb, Short thumb, Partial du... ORPHA:124
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea... ORPHA:35173
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... ORPHA:49
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700