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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Sirenomelia
Anal atresia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormality of the urinary sys... ORPHA:3169
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Urethral atresia, Absent external genitalia, Supernumerary vertebrae, Hemivertebrae... OMIM:271520
Chromosome 17Q12 Deletion Syndrome
High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Aplasia of the vagi... OMIM:614527
Caudal Duplication
Myelomeningocele, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal penis morphol... ORPHA:1756
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Vaginal fistula, Hemivertebrae, Horseshoe kidney, Sacral dimple OMIM:619318
Renal Agenesis, Bilateral
Cleft palate, Renal agenesis, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of fema... ORPHA:1848
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Unilateral renal agenesis, Bilateral renal agenesis, Death in infa... OMIM:618845
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Radioulnar synostosis, H... ORPHA:2319
Cloacal Exstrophy
Hemivertebrae, Bladder exstrophy, Abnormality of fibula morphology, Horseshoe kidney, Anal atresi... ORPHA:93929
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... OMIM:146255
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Anal atresia, Urogenital sinus anomaly, Renal hypoplasia/aplasia, Clef... ORPHA:2473
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Unilateral renal agenesis, Renal agene... OMIM:601076
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... ORPHA:755
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydrometrocolpos, Hydroureter, C... OMIM:236700
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Short neck, Abnormality of tibia morphology, Sacral dimple ORPHA:2487
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spinal dysraphism, Spina bifida ORPHA:3176
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia o... ORPHA:3109
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Polydactyly, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Prune Belly Syndrome
Urogenital sinus anomaly, Vertebral segmentation defect, Anal atresia, Cryptorchidism, Intestinal... ORPHA:2970
Diphallia
Absent thumb, Hemivertebrae, Abnormality of the pubic bone, Bladder exstrophy, Horseshoe kidney, ... ORPHA:227
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Bicornuate uterus, Renal agenesis, Short neck, Aplasia/hypoplasia ... ORPHA:2578
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Vertebral segmentation defect, Chronic kidney disease, Unilateral renal agenesis, Hemivertebrae, ... OMIM:617661
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Scoliosis, Broa... ORPHA:457284
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Cleft palate, Horseshoe kidney, Clinodactyly of the 5th finger, A... ORPHA:3320
Craniorachischisis
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cy... OMIM:615993
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Gastroesophageal reflux, Scolios... ORPHA:502434
Renal Agenesis
Anal atresia, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Renal hypoplasia/aplasia, Cleft pala... ORPHA:2345
Caudal Regression Syndrome
Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Renal agenesis, Abnor... ORPHA:3027
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, M... ORPHA:1834
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, External genital hypoplasia, Absent thumb, Hypoplasia of the radius, N... OMIM:613390
Vacterl/Vater Association
Cleft palate, Tracheoesophageal fistula, Anencephaly, Ambiguous genitalia, Anorectal anomaly, Ver... ORPHA:887
Macdermot-Winter Syndrome
Camptodactyly of finger, Death in infancy, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Mosaic Trisomy 9
High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Hemivertebrae, Camptodact... ORPHA:99776
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Finger joint ... OMIM:244200
Joubert Syndrome 18
Kyphoscoliosis, Horseshoe kidney, Polydactyly, Camptodactyly OMIM:614815
Mulchandani-Bhoj-Conlin Syndrome
2-3 toe syndactyly, Scoliosis, Hyperlordosis, Horseshoe kidney, Clinodactyly OMIM:617352
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Unilateral renal agene... OMIM:618142
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... ORPHA:281090
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Ambiguous genitalia, Umbilical hernia, Polydactyly affecting the 4th... ORPHA:672
Currarino Syndrome
Anterior sacral meningocele, Anal atresia, Hemisacrum, Bicornuate uterus, Anal fistula, Bifid sac... OMIM:176450
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Precocious puberty, Unilateral r... ORPHA:3306
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar synostosis, Abnorma... ORPHA:3266
Juberg-Hayward Syndrome
Abnormality of toe, Horseshoe kidney, Anteriorly placed anus, Abnormality of the radial head, Apl... OMIM:216100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia, Abnormality of the vertebr... OMIM:308205
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Anal atresia, Velopharyngeal insufficiency, Micropenis, Unilateral renal agenesi... ORPHA:363444
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Gastroesophageal reflux, High, narrow palate, Cleft palate, Renal agenesis, Over... OMIM:618494
Diabetic Embryopathy
Vertebral segmentation defect, Renal hypoplasia/aplasia, Cleft palate, Micropenis, Ureteral dupli... ORPHA:1926
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
2-3 toe syndactyly, Micropenis, Short neck, Broad hallux, Horseshoe kidney, Short foot OMIM:300860
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, R... OMIM:615982
Exstrophy-Epispadias Complex
Female sexual dysfunction, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Horseshoe ... ORPHA:322
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Beaulieu-Boycott-Innes Syndrome
Velopharyngeal insufficiency, Unilateral renal agenesis, Recurrent urinary tract infections, Endo... OMIM:613680
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm... OMIM:137920
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... ORPHA:2538
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Ana... OMIM:607323
Doors Syndrome
High palate, Cleft palate, Hemivertebrae, Cutaneous syndactyly, Sirenomelia, Ambiguous genitalia,... ORPHA:79500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Renal agenesis, Abnormal hip bone morphology, Abnormality of... ORPHA:294975
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Micropenis, Renal agenesis, Hypospadias, Bifid scro... ORPHA:83628
Ssr4-Cdg
Gastroesophageal reflux, Abnormality of the gastrointestinal tract, Horseshoe kidney, Scoliosis ORPHA:370927
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Hemivertebrae, Bifid uterus, Congenital hip dislo... OMIM:258040
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Hand oligodactyly, Absent thumb, Hypoplasia of the ra... OMIM:156810
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Renal agenesis, Hypospadias, Papillary cystadenoma of the epididymis, Multicys... ORPHA:93111
Meacham Syndrome
Abnormal vagina morphology, Aortic valve stenosis, Hypoplasia of penis, Hydrometrocolpos, Crossed... ORPHA:3097
Distal Tetrasomy 15Q
Hydrocele testis, Kyphosis, High palate, Abnormal external genitalia, Arachnodactyly, Abnormality... ORPHA:314588
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Deviation of finger ORPHA:1450
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Abnormality of the urinary system, Bifid... ORPHA:2669
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Anteriorly placed an... OMIM:600057
Emanuel Syndrome
High palate, Infertility, Kyphoscoliosis, Anal atresia, Ectopic anus, Gastroesophageal reflux, Cl... ORPHA:96170
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Hydranencephaly, Cleft palate OMIM:601355
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Renal hypoplasia/aplasia, Cleft palate, Abnormal hip bone morpholo... ORPHA:1166
Short Stature Syndrome, Brussels Type
Delayed epiphyseal ossification, Horseshoe kidney OMIM:601350
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hypospadias, Cryptorchidism, Horseshoe kidney OMIM:218350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Cryptorchidism, Intestinal lymphangiectasia, Small hand, Scoliosis, Spina bifida o... OMIM:235510
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, High palate, Hydrocephalus, Split foot, Congenital megaureter, Tr... ORPHA:2437
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Short Stature, Brussels Type
Delayed epiphyseal ossification, Horseshoe kidney ORPHA:2867
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Hiatus hernia, Bicornuate uterus, Unilateral renal agenesis, Vesicou... OMIM:606408
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor... OMIM:274000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Cutaneous syndactyly, Short neck, Brachydacty... OMIM:236500
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Cryptorchidism, Scoliosis, Hydronephrosis, Dysphagia, Renal atrophy OMIM:618578
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Horseshoe kidney, Ab... ORPHA:1772
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, 2-3 toe syndactyly, Micropenis, 3-4 finger cutaneous syndactyly, Unilateral renal agene... OMIM:619951
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tib... ORPHA:1988
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon OMIM:235740
Trisomy 20P
Abnormality of the ureter, Short neck, Platyspondyly, Umbilical hernia, Ectopic anus, Vertebral s... ORPHA:261318
Fetal Encasement Syndrome
Lower limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Upp... OMIM:613630
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Supernumerary vertebrae, Spina bifida OMIM:193500
Split Cord Malformation
Hydrocephalus, Tethered cord, Hemivertebrae, Horseshoe kidney, Lipomyelomeningocele, Hydromyelia,... ORPHA:573278
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Cleft palate, Unilateral renal agenesis, Abnormality of the kidn... OMIM:118100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Tracheoesophageal fistula, Short humerus, Abnormality of the vert... OMIM:314390
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Femoral bowing, Primary amenorrhea, Radioulnar synostosis, Ambiguous... ORPHA:95699
3Mc Syndrome 3
Cleft palate, Micropenis, Preaxial polydactyly, Bifid scrotum, Radioulnar synostosis, Penoscrotal... OMIM:248340
Meckel Syndrome, Type 10
Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Anencephaly, Bifid uvula, Camptodac... OMIM:614175
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Braddock Syndrome
Unilateral renal agenesis, Hemivertebrae, Short neck, Scoliosis, Preaxial hand polydactyly ORPHA:52047
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, High palate, Hydronephrosis OMIM:609757
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Scoliosis, Cleft palate OMIM:619504
Mosaic Trisomy 14
High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Camptodactyly of finge... ORPHA:1703
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Hydronephrosis, Spli... OMIM:183802
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Scoliosis, Broad h... OMIM:616362
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, High palate, Butterfly vertebrae, Cleft palate, Small hand, Hyposp... OMIM:611209
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... OMIM:101800
Distal Monosomy 10Q
High palate, 2-3 toe cutaneous syndactyly, Anal atresia, Clinodactyly of the 5th finger, Lumbar h... ORPHA:96148
Acces Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Split foot, Tracheoesophageal fistula, Horseshoe ki... OMIM:619959
Schisis Association
Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula, Anencephaly, Micromelia, E... ORPHA:63862
Pelvis-Shoulder Dysplasia
Dislocated radial head, Hydrocephalus, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, A... ORPHA:2839
3Mc Syndrome 2
Cleft palate, Hypospadias, Abnormality of the vertebral column, Radioulnar synostosis, Caudal app... OMIM:265050
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Abnormal intervertebral disk morphology, Cleft palate, H... ORPHA:2311
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism,... ORPHA:2470
Proteus Syndrome
Ovarian neoplasm, Sudden cardiac death, Sirenomelia, Long penis, Enlarged polycystic ovaries, Cli... ORPHA:744
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Hypoplasia of the uterus, Unilateral renal agenesis, Bifid distal phalanx of toe, S... OMIM:618419
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Butterfly vertebrae, Unilateral renal agenesis, Renal agenesis, Tracheoesophage... OMIM:619227
Autosomal Recessive Spastic Paraplegia Type 23
Hip dislocation, Kyphoscoliosis, Horseshoe kidney ORPHA:101003
Trisomy 13
Ectrodactyly, Kyphosis, High, narrow palate, Cleft palate, Abnormality of the ureter, Scoliosis, ... ORPHA:3378
Cat Eye Syndrome
Anal atresia, Meckel diverticulum, Rectal fistula, Cleft palate, Intestinal malrotation, Renal ag... OMIM:115470
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Anorectal anomaly, Bladder duplica... ORPHA:237
Urban-Rogers-Meyer Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Camptodactyly of finger, Abnormali... ORPHA:3409
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Hemivertebrae, Preaxial hand polydactyly OMIM:608406
Branchiootorenal Syndrome 1
High palate, Cleft palate, Unilateral renal agenesis, Abnormal renal collecting system morphology... OMIM:113650
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Hypoplasia of the radius, Short neck, Clitoral hypoplasia, Hypoplasia of the ulna, H... OMIM:609945
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, High palate, Kyphoscoliosis, Slender finger, Atlantoaxial dislocation, Cleft pal... ORPHA:2953
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Abnormal renal morpholo... OMIM:609053
Acro-Renal-Ocular Syndrome
Radial club hand, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Vertebral segmentation de... ORPHA:959
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal foot morphology, Abnormal vertebr... ORPHA:64754
Kallmann Syndrome With Spastic Paraplegia
High palate, Testicular atrophy, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogona... OMIM:308750
Mosaic Trisomy 16
Meckel diverticulum, Hypospadias, Syndactyly, Short femoral neck, Abnormality of the gastrointest... ORPHA:1708
Verheij Syndrome
Renal agenesis, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Renal cyst, Renal hypopla... OMIM:615583
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopi... OMIM:602200
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple ... ORPHA:66637
Meckel Syndrome, Type 6
Aplasia of the bladder, Cleft palate, Anencephaly, Hepatic cysts, Postaxial hand polydactyly, Ren... OMIM:612284
Orofaciodigital Syndrome V
High palate, Cleft palate, Postaxial polydactyly, Unilateral cryptorchidism, Scoliosis, Bifid ton... OMIM:174300
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hip dysp... ORPHA:195
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Ambiguous genitalia, ... OMIM:260660
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Micropenis, Congenital hip dislocation, Multicystic kidney dysplasia, ... OMIM:300209
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Scoliosis, Polydactyly, Hydronephrosis, Abnormal tongue morphology... ORPHA:531151
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
High palate, Testicular atrophy, Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogona... OMIM:308700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Distal Monosomy 13Q
Anal atresia, Renal hypoplasia/aplasia, Holoprosencephaly, Anencephaly, Abnormal form of the vert... ORPHA:1590
3Q29 Microdeletion Syndrome
High palate, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypospadias, Tapered finger... ORPHA:65286
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Anal atresia, Renal hypoplasia/aplasia, Intestinal malrotation, Tracheo... ORPHA:2973
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long bon... ORPHA:1106
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Abnormal renal morphology, Male infertility, Absent vas deferens, Obstructive azoos... ORPHA:48
Prune Belly Syndrome
Anal atresia, Cryptorchidism, Hydroureter, Congenital hip dislocation, Xerostomia, Hydronephrosis... OMIM:100100
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:2476
Ophthalmoplegia, External, And Myopia
Spina bifida, Absent patellar reflexes, Absent Achilles reflex OMIM:311000
Faciocardiorenal Syndrome
Cleft palate, Hydroureter, Scoliosis, Broad hallux, Horseshoe kidney, Clinodactyly, Cryptorchidis... OMIM:227280
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Hypertrophy of the urinary bladder, Renal dysplasia, Thoracolumbar scoliosis, Renal... OMIM:601389
Fanconi Anemia, Complementation Group L
Anal atresia, Absent thumb, Micropenis, Unilateral renal agenesis, Hypoplastic sacrum, Cleft pala... OMIM:614083
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney OMIM:617406
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida, Talipes ORPHA:945
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Unilat... OMIM:154400
Distal Monosomy 10P
Ectopic anus, Anal atresia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Sh... ORPHA:1580
1Q44 Microdeletion Syndrome
High palate, Intestinal malrotation, Scoliosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:238769
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Anal atresia, Labial hypoplasia, Clinodactyly of the 5th finger, Bicornuate uterus, Hypoplasia of... ORPHA:140952
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst, Esophageal v... OMIM:216360
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Crossed fused renal ectopia, Horseshoe kidney ORPHA:2213
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Intestinal malrotation, Scoliosis, Renal hypoplasia, Horseshoe ki... ORPHA:94063
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Abnormality of finger, Abnormality of toe, Precocious puberty, Horseshoe kidney, ... OMIM:163200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Recurrent urinary tract infections, Unilateral cleft palate, Horseshoe kidney, Crypt... OMIM:619103
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureterope... OMIM:143400
Fanconi Anemia, Complementation Group C
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Duplicated collecting ... OMIM:227645
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Hypospadias, Abnormality of the ureter, Short neck, Hyper... ORPHA:2522
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Anal atresia, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Short neck, Broad hallux, Cervical hemivertebrae, Horseshoe kidney, Clinodactyly o... ORPHA:508498
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Cleft palate, Abnormality of the ... ORPHA:1724
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Clinodactyly of the 5th finger, Bicornuate uterus, Spina bifida occulta, Clito... OMIM:300707
Focal Dermal Hypoplasia
Short clavicles, Renal hypoplasia/aplasia, Duodenal atresia, Gastroesophageal reflux, Split foot,... ORPHA:2092
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Decreased fertility in males, Micropenis, Hy... ORPHA:90796
Carpenter Syndrome 1
High palate, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes,... OMIM:201000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Renal cyst, Hallux valgus, Horseshoe kidney, Cryptorchidism, Short metacarpal, Met... ORPHA:166035
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short clavicles, Finger syndactyly, Absent middle phalanx of 3rd finger, Absent middle phalanx of... OMIM:308050
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Miscarriage, Bicornuate uterus, S... ORPHA:2438
3C Syndrome
Ectopic anus, Kyphosis, Anal atresia, Gastroesophageal reflux, Hypoplasia of penis, Cleft palate,... ORPHA:7
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia, Polyc... ORPHA:2237
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly of the 5th finger, Precocious puberty, High, narrow palate, Gastroesophageal reflux,... ORPHA:96182
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Labial hypoplasia, Femoral bowing, Hemivertebrae, Radioulnar synostosis, Ambiguous genitalia, Hor... OMIM:201750
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... OMIM:120330
Hand-Foot-Genital Syndrome
Short 1st metacarpal, Uterus didelphys, Shortening of all middle phalanges of the fingers, Chorde... OMIM:140000
Lathosterolosis
High palate, Hypoplasia of penis, Abnormal thoracic spine morphology, Postaxial hand polydactyly,... ORPHA:46059
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Unilateral renal agenesis, Hyperechogenic kidneys, Inflammation of the lar... OMIM:614576
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Hypoplasia of the rad... ORPHA:3412
Smith-Lemli-Opitz Syndrome
Cleft palate, Hammertoe, Ambiguous genitalia, Pyloric stenosis, Hip subluxation, Gastrointestinal... OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Duodenal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Micropenis, ... ORPHA:464306
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Cleft palate, Small hand, Intestinal malrotation, Broad hallux phalanx... ORPHA:93260
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Burn-Mckeown Syndrome
2-3 toe syndactyly, Cleft palate, Unilateral renal agenesis, Bifid uvula, Renal hypoplasia OMIM:608572
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Short toe, Duodenal atresia, Gastroesophageal reflux, Micropenis, Unilateral renal agen... ORPHA:464311
Takenouchi-Kosaki Syndrome
Overlapping toe, Unilateral renal agenesis, Hypospadias, Scoliosis, Tapered finger, Camptodactyly... OMIM:616737
Non-Syndromic Anorectal Malformation
Myelomeningocele, Anal atresia, Ectopic anus, Hemisacrum, Rectal fistula, Tethered cord, Hypospad... ORPHA:557
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Hydrometrocolpos, Brachydactyly, Postaxial hand polydactyly, Aplasia of th... OMIM:617088
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Delayed ossification of ... OMIM:184260
Penoscrotal Transposition
Clinodactyly of the 5th finger, Abnormal external genitalia, Renal agenesis, Hypospadias, Abnorma... ORPHA:2842
Fanconi Anemia, Complementation Group A
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Abnormal renal morphol... OMIM:227650
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Y-shaped metacarpals, Anteriorly placed anus, Anal atresia, Distal u... OMIM:146510
Fanconi Anemia, Complementation Group P
Absent thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney, Cryptorchidism, Short thumb OMIM:613951
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Sandal gap ORPHA:1046
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Severe platyspondyly, Horseshoe kidney, Sacral dimple, Narrow greater sciatic notch, Increased in... ORPHA:508533
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Cleft palate, Hypospadias, Scoliosis, Hydronephrosis OMIM:616449
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Camptodactyly of finge... ORPHA:2863
Even-Plus Syndrome
High palate, Epiphyseal dysplasia, Anal atresia, Vertebral clefting, Recurrent urinary tract infe... OMIM:616854
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male, Cleft palate OMIM:231060
Ritscher-Schinzel Syndrome 1
Anal atresia, Cleft palate, Hypospadias, Hemivertebrae, Syndactyly, Hydronephrosis OMIM:220210
Leopard Syndrome 1
Kyphoscoliosis, Hypoplasia of the ovary, Cleft palate, Micropenis, Unilateral renal agenesis, Hyp... OMIM:151100
Tarp Syndrome
Hypoplasia of proximal radius, Short sternum, Cleft palate, Postaxial polydactyly, Glossoptosis, ... ORPHA:2886
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, High palate... ORPHA:314585
Chops Syndrome
Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, High, narrow palate, Brachydactyly, Hor... OMIM:616368
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fi... OMIM:150230
Joubert Syndrome 37
High palate, Lumbar hyperlordosis, Micropenis, Postaxial polydactyly, Hydronephrosis, Decreased t... OMIM:619185
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Nephritis, Ab... ORPHA:391641
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... OMIM:154230
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Diamond-Blackfan Anemia 7
Cleft palate, Scoliosis, Triphalangeal thumb, Horseshoe kidney, Esophagitis, Vesicoureteral reflu... OMIM:612562
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, High palate, Short toe, Camptodactyly of finger, Brachydactyly, A... ORPHA:1327
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis, Spina bifida occulta OMIM:618060
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Hip dislocation, Adducted thumb OMIM:616603
Fanconi Anemia, Complementation Group D2
Absent thumb, Micropenis, Renal agenesis, Partial duplication of thumb phalanx, Absent radius, Hy... OMIM:227646
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Renal agenesis, Uterus didelphys, Abnormal uterine cervi... ORPHA:3411
Townes-Brocks Syndrome 2
Anal atresia, Hypospadias, Bifid uterus, Crossed fused renal ectopia, Scoliosis, Spina bifida occ... OMIM:617466
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract inf... OMIM:191800
Tarp Syndrome
High palate, Short sternum, Cleft palate, Postaxial polydactyly, Hypoplasia of the radius, Glosso... OMIM:311900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Genu valgum, Cryptorchidism ORPHA:1381
15q26 overgrowth syndrome
High palate, Abnormality of finger, Abnormality of toe, Arachnodactyly, Renal agenesis, Camptodac... DECIPHER:81
Fanconi Anemia, Complementation Group E
Absent thumb, Renal agenesis, Hypergonadotropic hypogonadism, Short thumb, Duplicated collecting ... OMIM:600901
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... ORPHA:2869
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Narrow palate, High, narrow palate, Cleft palate, Arachn... ORPHA:96169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size, ... OMIM:615287
Bladder Exstrophy
Abnormality of the anus, Abnormality of the clitoris, Hypoplasia of penis, Intestinal malrotation... ORPHA:93930
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Camptodactyly of finger, Short neck, Brachydactyly, Hydronephrosis, Cryptorc... ORPHA:2083
Radial-Renal Syndrome
Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb OMIM:179280
Seckel Syndrome 8
Kyphoscoliosis, Ectopic kidney OMIM:615807
Amish Lethal Microcephaly
Organic aciduria, Spina bifida, Death in infancy, Cleft soft palate ORPHA:99742
Bardet-Biedl Syndrome 6
External genital hypoplasia, Postaxial polydactyly, Hypospadias, Syndactyly, Renal cyst, Vaginal ... OMIM:605231
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Unilateral renal agenesis, Renal agenesis, Anteriorly placed anus, Rectovagin... OMIM:608980
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Teebi-Shaltout Syndrome
High, narrow palate, Cleft palate, Syndactyly, Ureteral stenosis, Camptodactyly, Caudal appendage... OMIM:272950
Fanconi Anemia
High palate, Abnormality of femur morphology, Hydrocephalus, Absent testis, Cleft palate, Tracheo... ORPHA:84
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:601186
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hyp... ORPHA:94065
Joubert Syndrome 7
Nephronophthisis, Postaxial polydactyly, Scoliosis, Postaxial hand polydactyly, Genu valgum, Rena... OMIM:611560
Rhyns Syndrome
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Abnormal long bone morphology, ... ORPHA:140976
Seckel Syndrome 2
Hypospadias, Microglossia, Clinodactyly of the 5th finger, Ectopic kidney OMIM:606744
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Cleft palate, Renal agenesis, Short neck, B... ORPHA:247768
Intellectual Developmental Disorder, X-Linked 99
Gastroesophageal reflux, Hypospadias, Broad hallux, Broad thumb, Ectopic kidney OMIM:300919
Vater/Vacterl Association
Tethered cord, Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Patent... OMIM:192350
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Intestinal malrotation, Brachydactyly, Ectopic kidney, Cryptorchidism, Sh... ORPHA:401935
Xp22.3 Microdeletion Syndrome
Ectopic anus, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Sacral dim... ORPHA:1643
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Gastrointestinal hemorrhage, Back pain, Multiple renal cysts ORPHA:2924
Harrod Syndrome
High palate, Kyphosis, Arachnodactyly, Hypospadias, Multicystic kidney dysplasia, Scoliosis, Abno... ORPHA:2115
6P22 Microdeletion Syndrome
Short neck, Hydronephrosis, Clinodactyly, Finger syndactyly ORPHA:251046
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Lathosterolosis
Myelomeningocele, High palate, Butterfly vertebrae, Ambiguous genitalia, male, Postaxial hand pol... OMIM:607330
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Blind vagina, Micropenis, Bifid scrotum, Glandular hypospadias, Penile hypospadias, ... ORPHA:456328
7Q11.23 Microduplication Syndrome
High palate, Unilateral renal agenesis, Hypospadias, Hemivertebrae, Short neck, Aplasia/hypoplasi... ORPHA:96121
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Arachnodactyly, Abnormality of the ureter, Micromelia, Genu valgum, Sandal gap, Umbi... ORPHA:1035
Peters-Plus Syndrome
Cleft palate, Hemivertebrae, Short neck, Clitoral hypoplasia, Square pelvis bone, Umbilical herni... OMIM:261540
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... OMIM:194072
Distal 22Q11.2 Microduplication Syndrome
High palate, Anal atresia, Macroglossia, Unilateral renal agenesis, Camptodactyly of toe, Camptod... ORPHA:261337
Trisomy X
Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Secondary... ORPHA:3375
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Meacham Syndrome
Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Death in childhood, Septate vagina, ... OMIM:608978
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Macroglossia, Unilateral renal agenesis, Hydroureter, Broad distal phalanx of finger, B... OMIM:619194
Focal Dermal Hypoplasia
Labial hypoplasia, Hiatus hernia, Cleft palate, Congenital hip dislocation, Clitoral hypoplasia, ... OMIM:305600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Butterfly vertebrae, Tethered cord, Aortic valve stenosis, Bifid uvula, Spinal d... OMIM:617660
Fryns Syndrome
Short distal phalanx of finger, High palate, Ectopic anus, Clinodactyly of the 5th finger, Anal a... ORPHA:2059
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614870
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Talipes equinovarus, Camptodactyly OMIM:211960
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th finger, Ectopic ... OMIM:239800
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Scoliosis, Camptodactyly, Hydronephrosis, Cryptorchidism OMIM:179613
Bresek Syndrome
Cleft palate, Hemivertebrae, Hypoplasia of the bladder, Scoliosis, Neonatal death, Renal dysplasi... ORPHA:85284
Microphthalmia, Lenz Type
Kyphosis, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Hypospadias, Camptodactyly of... ORPHA:568
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Anal atresia, Malabsorption, Hypoplasia of penis, Hypospadias, Abnorm... ORPHA:2315
Nail-Patella Syndrome
Cleft palate, Hematuria, Hypoplastic radial head, Proteinuria, Patellar dislocation, Absent dista... OMIM:161200
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Cleft palate, Bifid scrotum, Hypoplasia of the vagina, Bifid uvula, Spi... OMIM:119500
Jacobsen Syndrome
Short neck, Pyloric stenosis, Ectopic anus, Long hallux, Toe clinodactyly, Broad hallux phalanx, ... ORPHA:2308
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Brachydactyly, Gonadal dysgene... ORPHA:1770
Short Stature, Microcephaly, And Endocrine Dysfunction
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Clinodactyly, Cryptorchi... OMIM:616541
Vacterl Association With Hydrocephalus
Anal atresia, Absent thumb, Radial club hand, Abnormality of the vertebral column, Renal hypoplas... OMIM:276950
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Trisomy 1Q
Anal atresia, Cleft palate, Congenital megaureter, Arachnodactyly, Small scrotum, Camptodactyly o... ORPHA:261344
C Syndrome
High palate, Dislocated radial head, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Cl... ORPHA:1308
Pallister-Killian Syndrome
Labial hypoplasia, Cleft palate, Congenital hip dislocation, Short neck, Aplasia of the upper vag... OMIM:601803
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud... OMIM:304120
Cerebrocostomandibular Syndrome
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Gastroesophageal ref... OMIM:117650
Marden-Walker Syndrome
Cleft palate, Abnormality of the upper urinary tract, Radioulnar synostosis, Pyloric stenosis, Sc... ORPHA:2461
Genitopalatocardiac Syndrome
Kyphosis, Gonadal dysgenesis, male, Cleft palate, Hypospadias, Male pseudohermaphroditism, Multic... ORPHA:2075
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Hepatic cysts, Bowing of the long bones, S... ORPHA:1505
Iniencephaly
Myelomeningocele, Anal atresia, Duodenal atresia, Hydrocephalus, Talipes equinovarus, Holoprosenc... ORPHA:63259
White-Kernohan Syndrome
Gastroesophageal reflux, Hydroureter, Horseshoe kidney, Hydronephrosis, Anteriorly placed anus, R... OMIM:619426
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Cl... ORPHA:140
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Abnormality of fibula morphology, Genu valgum, H... ORPHA:93323
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Unilateral renal agenesis, Hypospadias, Camptodactyly of finger, Abnormal renal... ORPHA:468631
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Overlapping toe, Beaking of vertebral bodies, Cleft palate, Unilateral renal agenesi... OMIM:213980
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Brachydactyly, Scoliosis, Spina ... ORPHA:3219
Kinsship Syndrome
Dislocated radial head, Gastroesophageal reflux, Short neck, Scoliosis, Polydactyly, Renal hypopl... OMIM:619297
Orofaciodigital Syndrome Xv
Broad hallux, Lobulated tongue, Hydronephrosis, Postaxial polydactyly OMIM:617127
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Gastroesophageal reflux, Macroglossia, Micropenis, Renal agenesis, Hypo... OMIM:301040
Developmental Delay With Or Without Dysmorphic Facies And Autism
Clinodactyly of the 5th finger, Cleft palate, Scoliosis, Renal cyst, Renal hypoplasia, Short foot... OMIM:618454
Trisomy 17P
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Macroglossia, Sho... ORPHA:261290
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, High palate, Hypoplasia of the radius, Hemivertebrae, Abnormality of the ... OMIM:200980
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Death in infancy, Hydronephrosis OMIM:618240
Emanuel Syndrome
High palate, Kyphosis, Anal atresia, Gastroesophageal reflux, Cleft palate, Micropenis, Renal age... OMIM:609029
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, N... ORPHA:37202
Schizophrenia 1
Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... OMIM:181510
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Hypospadias, Abnormality of the ureter, Nephroblastoma, Syndactyl... OMIM:180860
Meier-Gorlin Syndrome 7
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Cleft palate, Micropenis, Prea... OMIM:617063
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Clinodactyly of the 5th finger, High, narrow palate, Aplasia/Hyp... ORPHA:2496
Mosaic Trisomy 8
Vertebral segmentation defect, High palate, Clinodactyly of the 5th finger, Cleft palate, Camptod... ORPHA:96061
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Adducted thumb, Short femur, Micropenis, Flared metaphy... OMIM:616897
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Tricuspid regurgitation, Talipes e... ORPHA:1120
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Deviation of finger, Bilateral cleft lip and palate,... ORPHA:1104
Meckel Syndrome 12
Ureteral hypoplasia, Renal agenesis, Bifid uvula, Renal hypoplasia, Rocker bottom foot, Vaginal a... OMIM:616258
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Nager Syndrome
Cleft palate, Hypoplasia of the radius, Unilateral renal agenesis, Aplasia/Hypoplasia of the radi... ORPHA:245
Fryns Syndrome
Prominent fingertip pads, Cleft palate, Short neck, Shawl scrotum, Rocker bottom foot, Short dist... OMIM:229850
Otopalatodigital Syndrome Type 2
Cleft palate, Ureteral obstruction, Bowing of the long bones, Encephalocele, Carpal synostosis, F... ORPHA:90652
Pagod Syndrome
Renal hypoplasia/aplasia, Agonadism, Multicystic kidney dysplasia, Sudden cardiac death, Arrhythm... ORPHA:991
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, S... ORPHA:110
Silver-Russell Syndrome
Abnormal vagina morphology, Clinodactyly of the 5th finger, Precocious puberty, Gastroesophageal ... ORPHA:813
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Micropenis, Hypospadias, Overlapping fingers, Postaxial hand polydactyly, Ve... OMIM:301056
Imagawa-Matsumoto Syndrome
Long foot, Camptodactyly, Large hands, Clinodactyly, Umbilical hernia, Anteriorly placed anus, Cr... OMIM:618786
Pseudoaminopterin Syndrome
High palate, Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly,... ORPHA:221120
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Pseudotrisomy 13 Syndrome
Anal atresia, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Micropenis, Renal agenesis, ... OMIM:264480
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Kyphoscoliosis, High, narrow palate, Micropenis, Arachnodactyly, Camptodactyly, Meta... OMIM:612513
Charge Syndrome
Labial hypoplasia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Cleft palate, Micrope... ORPHA:138
22Q11.2 Duplication Syndrome
Cleft palate, Scoliosis, Urethral stenosis, Hydronephrosis, Displacement of the urethral meatus ORPHA:1727
Joubert Syndrome 16
Renal cyst, Encephalocele, Polydactyly, Nephronophthisis OMIM:614465
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Isolated Hemihyperplasia
Myelomeningocele, Cryptorchidism, Nephroblastoma, Scoliosis ORPHA:2128
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Short distal phalanx of the thumb, Gastroesophageal reflux, Unilateral renal agenesis, Clinodacty... ORPHA:221139
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Micro Syndrome
High palate, Kyphosis, Hypoplasia of penis, Scoliosis, Clitoral hypoplasia, Hypoplastic labia min... ORPHA:2510
Fraser Syndrome
High palate, Ambiguous genitalia, Umbilical hernia, Encephalocele, Small scrotum, Vertebral segme... ORPHA:2052
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Aplasia/Hypoplasia... ORPHA:2879
Townes-Brocks Syndrome
Ulnar deviation of finger, Anteriorly placed anus, Absent toe, Abnormal vagina morphology, Anal a... ORPHA:857
Trisomy 18
Anal atresia, Narrow palate, Cleft palate, Holoprosencephaly, Abnormality of the upper urinary tr... ORPHA:3380
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Vaginal atresia, Crypt... ORPHA:3301
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... OMIM:268310
Baller-Gerold Syndrome
High palate, Anal atresia, Malabsorption, Hand oligodactyly, Cleft palate, Abnormality of the ure... ORPHA:1225
Kennerknecht syndrome
High palate, Malrotation of colon, Hypoplasia of the uterus, Toe clinodactyly, Renal agenesis, Ag... OMIM:600908
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Hypoplasia of the ulna, Renal cyst, Renal hypoplasia OMIM:228940
Septopreoptic Holoprosencephaly
Precocious puberty, Ethmoidal encephalocele, Dysphagia, Anteriorly placed anus, Abnormal vertebra... ORPHA:280195
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Tapered finger, Pyloric stenosis, Shawl scrotum, Sacral dimple, Chordee, Uni... ORPHA:268261
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Glossoptosis, Short har... ORPHA:1393
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Non-Syndromic Posterior Hypospadias
Anal atresia, Cleft palate, Bifid scrotum, Micropenis, Urethral diverticulum, Ventral shortening ... ORPHA:95706
Roberts-Sc Phocomelia Syndrome
High palate, Cleft palate, Short neck, Long penis, Enlarged labia minora, Horseshoe kidney, Clito... OMIM:268300
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate ORPHA:3316
Kabuki Syndrome
High palate, Cleft palate, Hemivertebrae, Precocious puberty, Hypoplasia of penis, Scoliosis, Ure... ORPHA:2322
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, High palate, Cleft palate, Postaxial polydactyly, Hypospadias, Sh... OMIM:614091
Zellweger Syndrome
High palate, Malabsorption, Hypospadias, Multicystic kidney dysplasia, Pyloric stenosis, Clitoral... ORPHA:912
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydactyly, Polydac... OMIM:615994
Waardenburg Syndrome Type 1
Cleft palate, Scoliosis, Meningocele, Spina bifida, Aganglionic megacolon ORPHA:894
Kury-Isidor Syndrome
High palate, Short neck, Brachydactyly, Scoliosis, Sacral dimple, Hydronephrosis, Rocker bottom f... OMIM:619762
Intellectual Disability, Buenos-Aires Type
High palate, Clinodactyly of the 5th finger, Hydronephrosis, Umbilical hernia, Abnormal pelvic gi... ORPHA:3079
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Narrow greater sciatic notch, Metaphyseal widening, Short neck, Polycystic kid... OMIM:263210
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Anal atresia, Scoliosis, Hyperlordosis, Abnormal epiphysis morph... ORPHA:2310
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Short femoral neck, T... OMIM:617159
Roifman-Chitayat Syndrome
Cone-shaped epiphysis, Short neck, Ectopic kidney, Umbilical hernia, Short metatarsal, Short meta... OMIM:613328
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... ORPHA:3138
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Short neck, Cervical spina bifida OMIM:600122
Hajdu-Cheney Syndrome
High palate, Dislocated radial head, Kyphoscoliosis, Crowded carpal bones, Intestinal malrotation... OMIM:102500
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Hemivertebrae, Tracheoesophageal fi... OMIM:214800
Genitopatellar Syndrome
Gastroesophageal reflux, Cryptorchidism, Hypoplastic ilia, Multicystic kidney dysplasia, Radiouln... ORPHA:85201
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Clinodactyly of the 5th finger, Ne... ORPHA:52
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Hemivertebrae, Tracheoesophageal fistula, Short ne... ORPHA:1780
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Micropenis, Short neck, Abnormal renal morphology, Postaxial hand polydactyly, Abnor... ORPHA:1655
Triploidy
Hydrocephalus, Hypoplasia of penis, Macroglossia, Cleft palate, Intestinal malrotation, Hypospadi... ORPHA:3376
8P23.1 Duplication Syndrome
Hydronephrosis, Toe syndactyly ORPHA:251076
Campomelic Dysplasia
High palate, Poorly ossified cervical vertebrae, Hydrocephalus, Cleft palate, Femoral bowing, Sho... OMIM:114290
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Cryptorchidism, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Encephal... OMIM:616300
Autosomal Recessive Robinow Syndrome
Short neck, Sandal gap, Umbilical hernia, Ankyloglossia, Sacral dimple, Short distal phalanx of f... ORPHA:1507
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal dysplasia, Brachydactyly, Renal cyst, Horseshoe kidne... OMIM:250410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Hypoplastic sacrum, Anteriorly placed anus, Bladder diverticulum, Hypogonadotropic ... OMIM:604292
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormality of... ORPHA:2241
Aplasia Cutis Congenita
Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Dysphagia, Syringomyelia, Spina bifida, Cervical myelopathy OMIM:207950
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Overlapping toe, Anal atresia, Gastroesophageal reflux, Postaxial polydactyly, Abnor... OMIM:613792
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Distal Trisomy 15Q
High palate, Anal atresia, Arachnodactyly, Camptodactyly of finger, Short neck, Abnormality of fe... ORPHA:1707
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Female infertility, Short sternum, Short neck, Irregular proximal tibial epiphyses, ... ORPHA:99413
Mosaic Monosomy X
High palate, Female infertility, Short sternum, Short neck, Irregular proximal tibial epiphyses, ... ORPHA:99228
Monosomy X
High palate, Female infertility, Short sternum, Short neck, Irregular proximal tibial epiphyses, ... ORPHA:99226
Turner Syndrome
High palate, Female infertility, Short sternum, Short neck, Irregular proximal tibial epiphyses, ... ORPHA:881
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Narrow palate, Micropenis, Scoliosis, Hydronephrosis, Cryptorchidism ORPHA:364028
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, High, narrow palate, Hypoplasia of the radius, Synostosis of carpal bon... ORPHA:3258
Coffin-Siris Syndrome
Hepatoblastoma, Hypospadias, Short 5th finger, Scoliosis, Horseshoe kidney, Clinodactyly, Cryptor... ORPHA:1465
Postaxial Acrofacial Dysostosis
Cleft palate, Micropenis, Hypoplasia of the radius, Abnormality of the kidney, Supernumerary vert... OMIM:263750
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Hemivertebrae, Congenital hip dislocation, Syndactyly, Ureteral triplication, Scolio... OMIM:104350
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short ti... OMIM:617925
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Waardenburg Syndrome
Myelomeningocele, Abnormal vagina morphology, Aplasia/Hypoplasia of the colon, Abnormality of the... ORPHA:3440
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... OMIM:122470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Unilateral renal agenesis, Hypospadias, Scoliosis, Tapered finger, Camptodactyly... ORPHA:487796
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Distal urethral duplication, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/apla... ORPHA:2549
Opitz Gbbb Syndrome
Vertebral segmentation defect, High palate, Anal atresia, Ectopic anus, Bicornuate uterus, Cleft ... ORPHA:2745
Desmoid Tumor
Malabsorption, Abnormality of the upper urinary tract, Desmoid tumors, Intestinal obstruction, In... ORPHA:873
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Tetrasomy 9P
High palate, Infertility, Small toe, Clinodactyly of the 5th finger, Cleft palate, Micropenis, Sm... ORPHA:3310
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... ORPHA:2547
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, High palate, Gastroesophageal ref... ORPHA:444077
Wolfram Syndrome 1
Testicular atrophy, Hydroureter, Limited mobility of proximal interphalangeal joint, Hydronephros... OMIM:222300
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Hydrocephalus, Cleft palate... OMIM:109400
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Ulnar deviated club hand... ORPHA:93320
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cryptorchidism, Neonatal death OMIM:620024
Bor Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... ORPHA:107
Distal Trisomy 6P
Abnormality of the urinary system, Short neck, Renal hypoplasia, Hydronephrosis, Sacral dimple ORPHA:1745
Penile Agenesis
Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Cryptorchidism, Tracheoes... ORPHA:49
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Glandular hypospadias,... ORPHA:1358
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of bladder morphology, Vertebral segmentation defect, High palate, Gastroesophageal r... ORPHA:453499
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Urethral stricture, Vaginal stricture, Esophageal stricture, G... ORPHA:79409
Kabuki Syndrome 2
High palate, Prominent fingertip pads, Cleft palate, Short 5th finger, Brachydactyly, Horseshoe k... OMIM:300867
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Hand oligodactyly, Absent thumb, Hypoplasia of the r... OMIM:602418
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Anal atresia, Posteriorly placed anus, Duodenal atresia, Hydrocephalus, Aqueduc... OMIM:306955
Mosaic Trisomy 1
Thoracic scoliosis, Renal cortical cysts, Cleft palate, Micropenis, Broad 2nd toe, Arachnodactyly... ORPHA:1692
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short distal phalanx of finger, Hydrocele testis, High palate, Ureteral hypoplasia, Anal atresia,... OMIM:614080
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Zaki Syndrome
High palate, Ectrodactyly, Renal agenesis, Hypoplasia of the phalanges of the toes, Broad distal ... OMIM:619648
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
8P Inverted Duplication/Deletion Syndrome
Clinodactyly of the 5th finger, Precocious puberty, High, narrow palate, Micropenis, Abnormality ... ORPHA:96092
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Abruzzo-Erickson Syndrome
Short toe, Cleft palate, Hypospadias, Coronal hypospadias, Brachydactyly, Ulnar deviation of fing... ORPHA:921
Renpenning Syndrome
Anal atresia, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hypospadias, Abn... ORPHA:3242
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet, Scoliosis, Abnormality of the lower limb OMIM:246000
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cleft palate, Congenital hip dislocation, Short neck, Umbilical hernia, Vertebral... ORPHA:373
Noonan Syndrome 4
Short neck, Ureteral duplication, Scoliosis, Hydronephrosis, Cryptorchidism OMIM:610733
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis, Uterus didelphys, Partial vaginal septum, Hematocolpos OMIM:192050
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Vaginal fistula, Aplasia/Hypoplasia of the phalanges of the toes, Finge... ORPHA:1112
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Gastroesophageal reflux, Cone-shaped epiphysis, Brachydactyly, Herniation of i... OMIM:157800
Suleiman-El-Hattab Syndrome
High palate, Brachydactyly, Polydactyly, Clinodactyly, Hydronephrosis, Cryptorchidism OMIM:618950
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Cleft palate, Micropenis, Short neck, Postaxial hand polydactyly, Protein-losing ent... OMIM:235255
Fanconi Anemia, Complementation Group F
Duodenal atresia, Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia... OMIM:603467
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Renal agenesis, Hypospadias, Radioulnar synostosis, Renal hypoplasia,... ORPHA:171839
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, ... ORPHA:2145
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Intestinal malrot... OMIM:617866
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Short neck, Sacrococcygeal teratoma, Hypopla... OMIM:269150
Frontometaphyseal Dysplasia
Cleft palate, Ureteral obstruction, Progressive bowing of long bones, Short distal phalanx of fin... ORPHA:1826
Dubowitz Syndrome
High palate, Rectal prolapse, Sandal gap, Sacral dimple, Malabsorption, Clinodactyly of the 5th f... ORPHA:235
Endove Syndrome, Limb-Brain Type
Aplasia of the 3rd finger, Recurrent urinary tract infections, Neurogenic bladder, Umbilical hern... OMIM:619218
Campomelia, Cumming Type
Cleft palate, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Multipl... ORPHA:1318
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Septate vagina, Congenital finger flexion contractures, Han... OMIM:114150
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Abnormal metacarpal morphology, Triphalangeal thumb, Abnormal distal p... ORPHA:2673
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Arachnodactyly, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo... ORPHA:73246
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Bilateral renal agenesis, Primary amenorrhea, Renal dysplasia, Proteinuria, Va... OMIM:191830
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Impotence, Hematuria, Membranous nephropathy, Reno... ORPHA:49041
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Distal urethral duplication, High, narrow palate OMIM:277465
Smith-Magenis Syndrome
Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Precocious puberty, Cleft palate, Gastr... ORPHA:819
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Tapered finger ORPHA:1920
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Overlapping toe, Anal atresia, Talipes equinovarus, Cryptorchidism, Distally placed ... OMIM:619148
Kleefstra Syndrome
Gastroesophageal reflux, Hypoplasia of penis, Macroglossia, Micropenis, Hypospadias, Scoliosis, P... ORPHA:261494