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