Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Holzgreve Syndrome |
|
Renal agenesis, Hypoplastic left heart, Renal hypoplasia |
OMIM:236110 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Intrauterine growth retardation, Nephroptosis, Bilateral cryptorchidism |
OMIM:617564 |
Lessel-Kubisch Syndrome |
|
Hypogonadism, Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis |
OMIM:219050 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp... |
OMIM:618845 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, H... |
OMIM:617661 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Short stature, Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... |
OMIM:614377 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Stillbirth, Renal agenesis, Abnormal heart morphology |
ORPHA:294975 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Ectopic kidney, Azoospermia |
OMIM:601076 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Test... |
ORPHA:281090 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Cryptorchidism, Vesicoureteral reflux, Rena... |
ORPHA:85284 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
Radial-Renal Syndrome |
|
Short stature, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septa... |
OMIM:612946 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Renal hypoplasia, Atrial sep... |
OMIM:608572 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... |
OMIM:244200 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, U... |
OMIM:613680 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Severe short stature, Vesicoureteral reflux, Renal hypoplasia... |
OMIM:616854 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Abnor... |
ORPHA:2260 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Growth delay, Hypogonadism,... |
ORPHA:3306 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... |
OMIM:618494 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:605280 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia |
OMIM:615665 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... |
OMIM:266810 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Verheij Syndrome |
|
Short stature, Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Growth de... |
OMIM:615583 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... |
ORPHA:363444 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Renal malrotation, Severe short stature, Short stature, Ventricular septal ... |
OMIM:601186 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septal defect, Intrauterine gr... |
ORPHA:75389 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Tetralogy of Fallot, Short stature, Renal hypoplasia |
OMIM:617926 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, H... |
OMIM:615993 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Braddock Syndrome |
|
Intrauterine growth retardation, Short stature, Unilateral renal agenesis |
ORPHA:52047 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal defect, Unilateral ren... |
OMIM:609029 |
Chopra-Amiel-Gordon Syndrome |
|
Postnatal growth retardation, Short stature, Unilateral renal agenesis |
OMIM:619504 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Stillb... |
OMIM:614922 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... |
ORPHA:411709 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:609053 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Short stature, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... |
OMIM:617914 |
Emanuel Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal h... |
ORPHA:96170 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Distal Duplication 6P |
|
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... |
ORPHA:1745 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607152 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Unilateral renal agenesis, Growth delay, Proximal tubulopathy, Atrial ... |
OMIM:614576 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Cach Syndrome |
|
Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Primary amenorrhea, Grow... |
ORPHA:135 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Delayed puberty, Intrauterine grow... |
OMIM:616817 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ... |
OMIM:308750 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:604805 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Renal Hypoplasia, Bilateral |
|
Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,... |
ORPHA:97362 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Isolated Atp Synthase Deficiency |
|
Short stature, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadis... |
ORPHA:254913 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve sten... |
OMIM:617660 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Renal hypoplasia |
OMIM:617784 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia |
OMIM:616589 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse |
OMIM:606408 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Short stature, Unilateral renal agenesis |
OMIM:614900 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoospermia, Micropenis... |
OMIM:308700 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal... |
OMIM:614376 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy,... |
OMIM:616541 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Growth delay, Intra... |
ORPHA:79284 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Mungan Syndrome |
|
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Intrauterine growth retardation, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intrauterine growth re... |
ORPHA:2470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Unilateral renal agenesis |
OMIM:617190 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Growth delay, Tubulointers... |
OMIM:617595 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Short stature, Unilateral renal agenesis, Crypto... |
OMIM:620024 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... |
OMIM:120330 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Renal hypoplasia, Renal ... |
ORPHA:85321 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:100994 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Intrau... |
OMIM:248700 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Secundum atrial septal defect, Cryptorchidism, Vesicoureteral reflux, ... |
OMIM:619951 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia |
ORPHA:464288 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Cryptorchidism, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial sept... |
OMIM:603467 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Short stature, Unilateral renal agenesis |
ORPHA:1064 |
Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Renal agenesis, Short stature, Unilateral renal agenesis |
OMIM:619227 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Cutis Laxa, Autosomal Dominant 3 |
|
Postnatal growth retardation, Intrauterine growth retardation, Unilateral renal agenesis |
OMIM:616603 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Short stature, Proteinuria, Cryptorchidism, Renal hypoplasia |
ORPHA:1307 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short stature, Ectopic kidney, Azoospermia, Renal dysplasia |
ORPHA:2578 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:603563 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:600363 |
12Q14 Microdeletion Syndrome |
|
Short stature, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation |
ORPHA:94063 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Secundum atrial septal defect, Renal hypoplasia, Absence of renal corticomedullary ... |
OMIM:619758 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... |
OMIM:264480 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Sever... |
ORPHA:2237 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:613096 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Ventricular septal defect, Short stature... |
OMIM:146510 |
Mullerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Unilateral renal agenesis |
OMIM:158330 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:182600 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis |
OMIM:608980 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:607565 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Postnatal growth retardation,... |
OMIM:620305 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism, Irre... |
OMIM:101800 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr... |
OMIM:270100 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Unilateral renal agenesis, Mild intrauterine growth retardation, Abnormal cardiac ... |
OMIM:308050 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... |
OMIM:616737 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Short stature, Ectopic kidney |
OMIM:181510 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Mi... |
ORPHA:464311 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
Leopard Syndrome 1 |
|
Short stature, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cr... |
OMIM:151100 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... |
OMIM:614527 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Neurofaciodigitorenal Syndrome |
|
Intrauterine growth retardation, Short stature, Unilateral renal agenesis, Cryptorchidism |
ORPHA:2673 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia |
OMIM:614091 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder |
ORPHA:2571 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Short stature, Cryptorchidism, Renal hypoplasia, ... |
ORPHA:3138 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Female inf... |
ORPHA:261529 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis... |
ORPHA:49 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism,... |
ORPHA:464306 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... |
OMIM:607323 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder |
OMIM:620379 |
Rauch-Steindl Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral renal hypoplasia, Intrauterine growth reta... |
OMIM:619695 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Urinary incontinence |
OMIM:126200 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... |
OMIM:618460 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Intrauterine growth retardation, Micro... |
OMIM:614083 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Ventricular septal defect, Unilateral renal agenesis, Hypospadias, Cryptorchidism,... |
ORPHA:96121 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Short stature, Renal hypoplasia, Abnormal heart morphology, Pulmonic stenosis |
ORPHA:314679 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Renal hypoplasia, Neonatal death, Intrauterine growth retardation, Pat... |
OMIM:269860 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphal... |
OMIM:618454 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Andersen-Tawil Syndrome |
|
Short stature, Dilated cardiomyopathy, Renal hypoplasia, Growth delay, Renal tubular dysfunction |
ORPHA:37553 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Short stature, Ventricular septal defect, Renal hypoplasia, Abnormal heart... |
ORPHA:84064 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Intra... |
ORPHA:468631 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Short stature, Hypospadias, Ectopic kidney, Proteinuria, Cryptorchidis... |
OMIM:122470 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Short stature, Ventricular sept... |
OMIM:270400 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Decreased... |
ORPHA:95699 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth |
OMIM:616300 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Mild postnatal growth retardation, Hydroureter, Unilater... |
ORPHA:90324 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Ventricular septal defect, Short stature, Abnormal pulmonary ... |
ORPHA:268261 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short stature, Truncus arteriosus, Ventricular septal defect, Hypospadias,... |
ORPHA:508498 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Growth delay, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph... |
OMIM:617913 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Abnormal heart morphology, ... |
ORPHA:487796 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability |
OMIM:616881 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Growth delay, Micropenis |
OMIM:615546 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Postnatal growth retardation, Atrial septal defect, Short stature, Unilateral renal agenesis |
OMIM:213980 |
Zttk Syndrome |
|
Short stature, Ventricular septal defect, Unilateral renal agenesis, Polyuria, Horseshoe kidney, ... |
OMIM:617140 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia |
OMIM:609727 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Cryptorchidism, Bilateral renal agenesis, Disproportionat... |
OMIM:619194 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, ... |
OMIM:181270 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Short stature, Ventricular septal defect, Unilateral ren... |
ORPHA:508488 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Van Maldergem Syndrome 1 |
|
Growth delay, Hypospadias, Renal hypoplasia |
OMIM:601390 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Renal hypoplasia, Severe postnatal growth retardation, Atrial septal defect, Intr... |
OMIM:620005 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... |
OMIM:118450 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:206583 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder |
ORPHA:71211 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Cockayne Syndrome |
|
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Unilateral r... |
ORPHA:191 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Cryptorchidism, Nephroblastoma, Renal transitional cell carcinoma |
ORPHA:2874 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Short stature, Renal agenesis, Hypergonadotropic ... |
OMIM:227650 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Unilateral renal agenesis |
OMIM:618419 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Disproportionate s... |
OMIM:210710 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
22Q11.2 Deletion Syndrome |
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Short stature, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Crypt... |
ORPHA:567 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, Microp... |
OMIM:619321 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Atrial septal defect, Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal ... |
OMIM:308205 |
Degcags Syndrome |
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Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Bilateral renal dyspl... |
OMIM:619488 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Postnatal growth retardation, Dilatation of the ventricular cavity, Py... |
ORPHA:90348 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Tetralogy of Fallot, Short stature, Unilateral renal agenesis |
OMIM:154400 |
Poland Syndrome |
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Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Cryptorchidism... |
ORPHA:2911 |
Distal 22Q11.2 Microduplication Syndrome |
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Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse, Cryptorchidism |
ORPHA:261337 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality, Mental deterioration, Progressiv... |
ORPHA:206448 |
Primary Hyperoxaluria Type 1 |
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Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Renal hy... |
OMIM:309500 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Short stature, Abnormal pulmonary valve morphology, Hyp... |
ORPHA:857 |
Diamond-Blackfan Anemia 1 |
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Ventricular septal defect, Short stature, Tricuspid stenosis, Renal hypoplasia, Atrial septal def... |
OMIM:105650 |
Kinsship Syndrome |
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Short stature, Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy |
ORPHA:69076 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... |
OMIM:194050 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... |
ORPHA:85450 |
14Q22Q23 Microdeletion Syndrome |
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Cryptorchidism, Short stature, Renal hypoplasia |
ORPHA:264200 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... |
ORPHA:904 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Spermatogenic Failure 28 |
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Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Pallister-Hall Syndrome |
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Decreased testicular size, Short stature, Ventricular septal defect, Unilateral renal agenesis, E... |
ORPHA:672 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:620197 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis |
ORPHA:457284 |
Okamoto Syndrome |
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Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef... |
ORPHA:2729 |
Nephrogenic Diabetes Insipidus |
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Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Short stature, Ventricular septal defect, Hypospadias, Ectopic kidney, Postnatal gro... |
OMIM:135900 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral renal agenesis, Proportionate short stature, Bilateral renal dysplasia, Horseshoe kidn... |
ORPHA:500150 |
Classic Galactosemia |
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Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Ventricular septal defect, Short stature, Unilateral renal ... |
OMIM:188400 |
Amelogenesis Imperfecta, Type Ig |
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Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Renal agenesis, Hypogonadotropic hypogonadism, Postn... |
OMIM:214800 |
Autosomal Recessive Spastic Paraplegia Type 15 |
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Functional abnormality of the bladder |
ORPHA:100996 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Xq28 (MECP2) duplication |
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Functional abnormality of the bladder |
DECIPHER:45 |
Proboscis Lateralis |
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Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:141099 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Optic neuropathy, D... |
ORPHA:909 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Cryptorchidism, Muscular ve... |
OMIM:619503 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 9 |
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Situs inversus totalis, Male infertility |
OMIM:612444 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Fraser Syndrome 1 |
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Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog... |
OMIM:219000 |
Townes-Brocks Syndrome 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
Ciliary Dyskinesia, Primary, 18 |
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Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
Peters-Plus Syndrome |
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Ureteral duplication, Rhizomelia, Ventricular septal defect, Hypospadias, Postnatal growth retard... |
OMIM:261540 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Intrauterine growth retardation, Recurrent urinary tract infections, Short stature, Renal hypoplasia |
OMIM:617157 |
Ciliary Dyskinesia, Primary, 14 |
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Situs inversus totalis, Reduced sperm motility, Male infertility, Immotile sperm |
OMIM:613807 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ... |
ORPHA:3404 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Intrauterine g... |
OMIM:611812 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Ciliary Dyskinesia, Primary, 34 |
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Male infertility, Immotile sperm |
OMIM:617091 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Short stature, Unilateral renal agenesis, Secundum atrial septal defect, Subarterial ventricular ... |
ORPHA:99646 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility, Hypercalciuria |
ORPHA:2239 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Spermatogenic Failure 14 |
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Male infertility, Azoospermia |
OMIM:615842 |
Foix-Alajouanine Syndrome |
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Neurogenic bladder, Functional abnormality of the bladder, Urinary retention, Urinary incontinence |
ORPHA:79093 |
47,Xyy Syndrome |
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Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Spermatogenic Failure, X-Linked, 4 |
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Male infertility, Azoospermia |
OMIM:301077 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Growth delay, Macroorchidism, Short stature, Unilateral renal hypoplasia |
OMIM:619950 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Dispro... |
ORPHA:93271 |
Orofaciodigital Syndrome Xiv |
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Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal hypoplasia, Atrial septal... |
OMIM:615948 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Short stature, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux... |
OMIM:309580 |
Fraser Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Renal hypoplasia,... |
ORPHA:2052 |
Enamel-Renal Syndrome |
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Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Trisomy 10P |
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Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Lacrimoauriculodentodigital Syndrome |
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Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Ciliary Dyskinesia, Primary, 19 |
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Situs inversus totalis, Male infertility |
OMIM:614935 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... |
ORPHA:90797 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... |
ORPHA:251510 |
Lumbar Syndrome |
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Renal agenesis, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Micropenis, Bladder exstrophy... |
ORPHA:83628 |
Cockayne Syndrome A |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Male infertility, Azoospermia |
OMIM:277180 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Streak ovary, Bicuspid aortic valve, Short stature, Hypospadias, Abnormality of... |
ORPHA:1772 |
Distal Deletion 10Q |
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Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k... |
ORPHA:96148 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... |
ORPHA:90793 |
Cystinosis, Nephropathic |
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Male infertility, Renal insufficiency, Hyperphosphaturia, Short stature, Proteinuria, Polyuria, S... |
OMIM:219800 |
Cockayne Syndrome B |
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Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Vater/Vacterl Association |
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Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Postnata... |
OMIM:192350 |
Microphthalmia, Syndromic 6 |
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Cryptorchidism, Female hypogonadism, Renal hypoplasia |
OMIM:607932 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty |
ORPHA:99429 |
Microphthalmia, Syndromic 1 |
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Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal ... |
OMIM:309800 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Musculocontractural Ehlers-Danlos Syndrome |
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Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney |
ORPHA:2953 |
Bloom Syndrome |
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Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Oligozoosp... |
ORPHA:125 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Ciliary Dyskinesia, Primary, 1 |
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Situs inversus totalis, Male infertility |
OMIM:244400 |
Noonan Syndrome 1 |
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Male infertility, Short stature, Ventricular septal defect, Hypospadias, Postnatal growth retarda... |
OMIM:163950 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Superficial Siderosis |
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Functional abnormality of the bladder |
ORPHA:247245 |
Cystic Fibrosis |
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Male infertility, Cor pulmonale, Hypercalciuria |
OMIM:219700 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Functional abnormality of the bladder, Renal artery stenosis, Renovascular hypertension |
ORPHA:391487 |
Alström Syndrome |
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Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |