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 |
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Ectopic kidney |
OMIM:169545 |
Oculoauriculovertebral Spectrum With Radial Defects |
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Ectopic anus, Distal urethral duplication, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/apla... |
ORPHA:2549 |
Opitz Gbbb Syndrome |
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Vertebral segmentation defect, High palate, Anal atresia, Ectopic anus, Bicornuate uterus, Cleft ... |
ORPHA:2745 |
Desmoid Tumor |
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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 |
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Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... |
ORPHA:752 |
Tetrasomy 9P |
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High palate, Infertility, Small toe, Clinodactyly of the 5th finger, Cleft palate, Micropenis, Sm... |
ORPHA:3310 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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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 |
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Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, High palate, Gastroesophageal ref... |
ORPHA:444077 |
Wolfram Syndrome 1 |
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Testicular atrophy, Hydroureter, Limited mobility of proximal interphalangeal joint, Hydronephros... |
OMIM:222300 |
Basal Cell Nevus Syndrome |
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Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Hydrocephalus, Cleft palate... |
OMIM:109400 |
Ulnar Hemimelia |
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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 |
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Unilateral renal agenesis, Cryptorchidism, Neonatal death |
OMIM:620024 |
Bor Syndrome |
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Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... |
ORPHA:107 |
Distal Trisomy 6P |
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Abnormality of the urinary system, Short neck, Renal hypoplasia, Hydronephrosis, Sacral dimple |
ORPHA:1745 |
Penile Agenesis |
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Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Cryptorchidism, Tracheoes... |
ORPHA:49 |
Carey-Fineman-Ziter Syndrome |
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High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Glandular hypospadias,... |
ORPHA:1358 |
Polycystic Kidney Disease 5 |
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Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Abnormality of bladder morphology, Vertebral segmentation defect, High palate, Gastroesophageal r... |
ORPHA:453499 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
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Abnormality of the urinary system, Urethral stricture, Vaginal stricture, Esophageal stricture, G... |
ORPHA:79409 |
Kabuki Syndrome 2 |
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High palate, Prominent fingertip pads, Cleft palate, Short 5th finger, Brachydactyly, Horseshoe k... |
OMIM:300867 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, High palate, Hand oligodactyly, Absent thumb, Hypoplasia of the r... |
OMIM:602418 |
Heterotaxy, Visceral, 1, X-Linked |
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Myelomeningocele, Anal atresia, Posteriorly placed anus, Duodenal atresia, Hydrocephalus, Aqueduc... |
OMIM:306955 |
Mosaic Trisomy 1 |
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Thoracic scoliosis, Renal cortical cysts, Cleft palate, Micropenis, Broad 2nd toe, Arachnodactyly... |
ORPHA:1692 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Short distal phalanx of finger, Hydrocele testis, High palate, Ureteral hypoplasia, Anal atresia,... |
OMIM:614080 |
Urofacial Syndrome 2 |
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Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Zaki Syndrome |
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High palate, Ectrodactyly, Renal agenesis, Hypoplasia of the phalanges of the toes, Broad distal ... |
OMIM:619648 |
Oocyte Maturation Defect 2 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
8P Inverted Duplication/Deletion Syndrome |
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Clinodactyly of the 5th finger, Precocious puberty, High, narrow palate, Micropenis, Abnormality ... |
ORPHA:96092 |
Oocyte Maturation Defect 4 |
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Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Renal Tubular Dysgenesis |
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Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
Abruzzo-Erickson Syndrome |
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Short toe, Cleft palate, Hypospadias, Coronal hypospadias, Brachydactyly, Ulnar deviation of fing... |
ORPHA:921 |
Renpenning Syndrome |
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Anal atresia, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hypospadias, Abn... |
ORPHA:3242 |
Leg, Absence Deformity Of, With Congenital Cataract |
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Anal atresia, Duplication involving bones of the feet, Scoliosis, Abnormality of the lower limb |
OMIM:246000 |
Meckel Syndrome, Type 11 |
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Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly |
OMIM:615397 |
Simpson-Golabi-Behmel Syndrome |
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Hepatoblastoma, Cleft palate, Congenital hip dislocation, Short neck, Umbilical hernia, Vertebral... |
ORPHA:373 |
Noonan Syndrome 4 |
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Short neck, Ureteral duplication, Scoliosis, Hydronephrosis, Cryptorchidism |
OMIM:610733 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
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Renal agenesis, Uterus didelphys, Partial vaginal septum, Hematocolpos |
OMIM:192050 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Renal hypoplasia/aplasia, Vaginal fistula, Aplasia/Hypoplasia of the phalanges of the toes, Finge... |
ORPHA:1112 |
Cardiospondylocarpofacial Syndrome |
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Carpal synostosis, Gastroesophageal reflux, Cone-shaped epiphysis, Brachydactyly, Herniation of i... |
OMIM:157800 |
Suleiman-El-Hattab Syndrome |
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High palate, Brachydactyly, Polydactyly, Clinodactyly, Hydronephrosis, Cryptorchidism |
OMIM:618950 |
Indomethacin Embryofetopathy |
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Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Cleft palate, Micropenis, Short neck, Postaxial hand polydactyly, Protein-losing ent... |
OMIM:235255 |
Fanconi Anemia, Complementation Group F |
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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 |
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Cryptorchidism, Micropenis, Renal agenesis, Hypospadias, Radioulnar synostosis, Renal hypoplasia,... |
ORPHA:171839 |
Craniosynostosis, Herrmann-Opitz Type |
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Cleft palate, Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, ... |
ORPHA:2145 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Intestinal malrot... |
OMIM:617866 |
Schinzel-Giedion Midface Retraction Syndrome |
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Short sternum, Hepatoblastoma, Short 1st metacarpal, Short neck, Sacrococcygeal teratoma, Hypopla... |
OMIM:269150 |
Frontometaphyseal Dysplasia |
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Cleft palate, Ureteral obstruction, Progressive bowing of long bones, Short distal phalanx of fin... |
ORPHA:1826 |
Dubowitz Syndrome |
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High palate, Rectal prolapse, Sandal gap, Sacral dimple, Malabsorption, Clinodactyly of the 5th f... |
ORPHA:235 |
Endove Syndrome, Limb-Brain Type |
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Aplasia of the 3rd finger, Recurrent urinary tract infections, Neurogenic bladder, Umbilical hern... |
OMIM:619218 |
Campomelia, Cumming Type |
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Cleft palate, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Multipl... |
ORPHA:1318 |
Camptobrachydactyly |
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Short toe, Syndactyly, Brachydactyly, Septate vagina, Congenital finger flexion contractures, Han... |
OMIM:114150 |
Neurofaciodigitorenal Syndrome |
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Unilateral renal agenesis, Abnormal metacarpal morphology, Triphalangeal thumb, Abnormal distal p... |
ORPHA:2673 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Cryptorchidism, Arachnodactyly, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo... |
ORPHA:73246 |
Renal Hypodysplasia/Aplasia 1 |
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Bicornuate uterus, Bilateral renal agenesis, Primary amenorrhea, Renal dysplasia, Proteinuria, Va... |
OMIM:191830 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
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Vaginal fistula |
ORPHA:2597 |
Igg4-Related Retroperitoneal Fibrosis |
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Dysuria, Hydrocele testis, Nephrotic syndrome, Impotence, Hematuria, Membranous nephropathy, Reno... |
ORPHA:49041 |
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication |
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Distal urethral duplication, High, narrow palate |
OMIM:277465 |
Smith-Magenis Syndrome |
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Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Precocious puberty, Cleft palate, Gastr... |
ORPHA:819 |
Toluene Embryopathy |
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Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Tapered finger |
ORPHA:1920 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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High palate, Overlapping toe, Anal atresia, Talipes equinovarus, Cryptorchidism, Distally placed ... |
OMIM:619148 |
Kleefstra Syndrome |
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Gastroesophageal reflux, Hypoplasia of penis, Macroglossia, Micropenis, Hypospadias, Scoliosis, P... |
ORPHA:261494 |