Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Leopard Syndrome 1 |
|
Aplasia of the ovary, Unilateral renal agenesis, Spina bifida occulta, Hypoplasia of the ovary, H... |
OMIM:151100 |
Dysmyelination With Jaundice |
|
Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism |
OMIM:224250 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... |
OMIM:236730 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia of the ovary, Agonadism, Non-obstructive azoospermia, Small pituitary gland, Increased ci... |
ORPHA:2232 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Absent mesencephalon |
OMIM:601374 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Penoscrotal Transposition |
|
Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormali... |
ORPHA:2842 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the midbrain, Hypoplasia of the pons, Cryptorchidism |
OMIM:616202 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus... |
ORPHA:280195 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:1046 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... |
ORPHA:325345 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the clitoris, Recurrent urinary tract infections, Hypoplasi... |
ORPHA:93930 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Spinal cord lesion, Cryptorchidism, Uterus didelphys, Ureteral du... |
ORPHA:1756 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 16 |
|
Renal cyst, Molar tooth sign on MRI, Encephalocele, Nephronophthisis |
OMIM:614465 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Anencephaly, Renal cyst, Hypospadias, Occipital encephalocele, Micropenis |
OMIM:614175 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Renal cyst, Bile... |
OMIM:611134 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... |
OMIM:611560 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Bladder Exstrophy And Epispadias Complex |
|
Bifid clitoris, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exs... |
OMIM:600057 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital encephalocele, ... |
OMIM:614815 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Renal agenesis, Ectopic kidney, Abnormality of the ur... |
ORPHA:3027 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... |
ORPHA:2973 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder |
ORPHA:2547 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Silver-Russell Syndrome 1 |
|
Nephroblastoma, Congenital posterior urethral valve, Testicular seminoma, Abnormality of the uret... |
OMIM:180860 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypogonadism, Cryptorchidism |
ORPHA:3409 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... |
ORPHA:168563 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... |
OMIM:609583 |
Hypouricemia, Renal, 1 |
|
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Frasier Syndrome |
|
Gonadoblastoma, Renal insufficiency, Streak ovary, Nephrotic syndrome, Ambiguous genitalia, male,... |
ORPHA:347 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:608091 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Streak ovary, Abnormality of the uterus, Nephropathy, Hypospadias, Cryptorchidism... |
OMIM:194072 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Gonadal dysgenesis |
ORPHA:1770 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ... |
ORPHA:322 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Abnormal vagina mo... |
ORPHA:251510 |
Joubert Syndrome 15 |
|
Nephronophthisis, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis |
OMIM:614464 |
Cloacal Exstrophy |
|
Abnormal fallopian tube morphology, Abnormality of the clitoris, Vesicoureteral reflux, Renal hyp... |
ORPHA:93929 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ... |
OMIM:614424 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal morphology of female internal genitalia, Renal hypoplasia/aplasia, Renal cyst, Abnormali... |
ORPHA:1834 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Hydronephrosis, Cryptorchidism |
OMIM:100100 |
Trisomy 13 |
|
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Multiple renal cysts... |
ORPHA:3378 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of penis, Hypoplasia o... |
ORPHA:110 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... |
ORPHA:432 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Elevated c... |
OMIM:619834 |
Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Micropenis, Cryptorchidism |
OMIM:618841 |
Premature Ovarian Failure 10 |
|
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Elevated circulating luteinizing... |
OMIM:612885 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:79318 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary |
OMIM:611548 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis |
OMIM:619185 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kid... |
OMIM:216360 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619665 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cyst... |
ORPHA:2869 |
Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Transient nep... |
ORPHA:356961 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology |
ORPHA:494 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Nephropathy, Renal insufficiency |
ORPHA:2318 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circulating gonadotro... |
ORPHA:1772 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Abnormal spinal cord morphology, Myelopathy, Abnormal brainstem white matter m... |
ORPHA:139396 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:615723 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Nephropathy, Renal insufficiency |
ORPHA:220497 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... |
OMIM:236700 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619203 |
Diphallia |
|
Renal duplication, Abnormal spermatogenesis, Bifid scrotum, Renal malrotation, Penoscrotal transp... |
ORPHA:227 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Cryptor... |
ORPHA:2311 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Ureterocele, Cryptorchidis... |
ORPHA:261265 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Pituitary hyp... |
ORPHA:66628 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:612310 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Pituitary hyp... |
ORPHA:179494 |
46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Increased circulating gonadotropin level, Gonadal dysgenesis, Streak ovary, ... |
ORPHA:243 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... |
ORPHA:105 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the ovary, Bicornuate uterus, Hypoplasia ... |
OMIM:615300 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Encephalocele, Molar tooth sign on MRI, Renal cyst, Stillbirth, Cryptorchidi... |
OMIM:616300 |
Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... |
OMIM:258040 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Molar tooth sign on MRI, Intrauterine growth retardation |
OMIM:615665 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Micropenis |
OMIM:616546 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Re... |
OMIM:618161 |
Joubert Syndrome 6 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thi... |
OMIM:610688 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary |
OMIM:609993 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology |
ORPHA:206448 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI |
OMIM:617757 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Anterior hypopituitarism, Reduced circulating prolactin concentration, Secondary growth hormone d... |
ORPHA:2235 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Encephalocele, Molar tooth sign on MRI |
ORPHA:220493 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Smith-Magenis Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Precocious puberty, Abnormal localization of... |
ORPHA:819 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ren... |
OMIM:213300 |
Trisomy 20P |
|
Macroorchidism, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Multiple renal... |
ORPHA:261318 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal midbrain morphology, Encephalocele |
ORPHA:314621 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Dextrocardia |
|
Abnormality of the ureter, Abnormal reproductive system morphology, Abnormal renal morphology |
ORPHA:1666 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Renal cortical cysts, Renal insufficiency, Elongated superior cerebellar peduncle, M... |
ORPHA:397715 |
Toriello-Lacassie-Droste Syndrome |
|
Epispadias, Abnormality of the bladder, Hypospadias, Abnormality of the ureter, Abnormal penis mo... |
ORPHA:3339 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Hematuria, Urethral stricture, Urinary bladder inflammation, ... |
ORPHA:79403 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Abnormality of the kidney, Epispadias, Abnormality of the ... |
ORPHA:289 |
Arima Syndrome |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Stage 5 chronic kidney disease, Renal sodiu... |
OMIM:243910 |
Meckel Syndrome, Type 1 |
|
Molar tooth sign on MRI, Ambiguous genitalia, female, External genital hypoplasia, Anencephaly, H... |
OMIM:249000 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria |
ORPHA:30 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Abnormality of the ureter, Bladder polyp, Uterine neoplasm, Precocious puberty with... |
OMIM:175200 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Cryptorchidism |
ORPHA:52 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Small scrotum, Hypogonadism |
ORPHA:3253 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Anemia |
OMIM:184850 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... |
OMIM:228300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Holoprosencephaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Str... |
OMIM:618820 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Vesicoureteral reflux, Ambiguous genitalia, Abnormality of female external genitalia, Increased s... |
ORPHA:95699 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Penile Agenesis |
|
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... |
ORPHA:49 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Renal cyst, Abnormality of the ureter, Hypospadias, Annular pancreas, Streak ... |
ORPHA:798 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Communicating hydrocephalus, Unilateral renal agenesis, Hyperparathyroidism, Ova... |
OMIM:618188 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the brainstem, Hypoplasia of the pons, Abnormal midbrain morphology, Ureteropelvic ... |
ORPHA:444072 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Renal cortical cysts, Molar tooth sign on MRI, Stage 5 chro... |
OMIM:610188 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Decreased testicular size, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardatio... |
OMIM:619321 |
Acrorenal-Mandibular Syndrome |
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Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Renal agenesis, Abnormality o... |
OMIM:200980 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Japanese Encephalitis |
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Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Hyperintensity of M... |
ORPHA:79139 |
Alg9-Cdg |
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Bicornuate uterus, Enlarged kidney, Ureteral hypoplasia, Hypoplasia of the ovary, Hypoplastic nip... |
ORPHA:79328 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Tay-Sachs Disease |
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Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La... |
ORPHA:845 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Joubert Syndrome 17 |
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Molar tooth sign on MRI |
OMIM:614615 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
Spinal Arteriovenous Metameric Syndrome |
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Spinal arteriovenous malformation, Abnormal spinal cord morphology, Urinary bladder sphincter dys... |
ORPHA:53721 |
Orofaciodigital Syndrome Vi |
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Arrhinencephaly, Occipital meningocele, Molar tooth sign on MRI |
OMIM:277170 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Baller-Gerold Syndrome |
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Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Limb Body Wall Complex |
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Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Orofaciodigital Syndrome Xiv |
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Molar tooth sign on MRI, Epispadias, Holoprosencephaly, Cryptorchidism, Occipital encephalocele, ... |
OMIM:615948 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Abnormal midbrain morph... |
ORPHA:68 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Igg4-Related Kidney Disease |
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Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Woodhouse-Sakati Syndrome |
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Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De... |
ORPHA:3464 |
Sandhoff Disease |
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Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Orofaciodigital Syndrome Xvi |
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Molar tooth sign on MRI |
OMIM:617563 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology |
ORPHA:83468 |
Adrenomyeloneuropathy |
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Urinary incontinence, Adrenocorticotropic hormone excess, Urinary bladder sphincter dysfunction, ... |
ORPHA:139399 |
Tetrasomy 9P |
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Absent gallbladder, Abnormal spinal cord morphology, Hydrocephalus, Oligospermia, Multiple renal ... |
ORPHA:3310 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Schwartz-Jampel Syndrome |
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Testicular torsion, Decreased testicular size, Abnormality of the ureter, Abnormality of the urin... |
ORPHA:800 |
Acute Disseminated Encephalomyelitis |
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Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Orofaciodigital Syndrome Type 6 |
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Bilateral cryptorchidism, Molar tooth sign on MRI |
ORPHA:2754 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:619306 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating luteinizing hormon... |
ORPHA:572333 |
Wilson Disease |
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Aminoaciduria, Glycosuria, Face of the giant panda sign, Hyperphosphaturia, Renal tubular dysfunc... |
OMIM:277900 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
Mosaic Trisomy 20 |
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Horseshoe kidney, Abnormal spinal cord morphology, Intrauterine growth retardation, Cryptorchidism |
ORPHA:1724 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Small pituitary gland, Hypospadias, Molar tooth sign on MRI, Micropenis |
OMIM:619479 |
Joubert Syndrome 38 |
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Small pituitary gland, Ectopic posterior pituitary, Decreased response to growth hormone stimulat... |
OMIM:619476 |
Superficial Siderosis |
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Abnormal spinal cord morphology, Atrophy/Degeneration affecting the brainstem, Functional abnorma... |
ORPHA:247245 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
Congenital Tracheal Stenosis |
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Abnormality of the kidney, Abnormality of the ureter |
ORPHA:141127 |
Orofaciodigital Syndrome Type 14 |
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Bilateral cryptorchidism, Molar tooth sign on MRI, Epispadias |
ORPHA:434179 |
Primary Sjögren Syndrome |
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Tubulointerstitial nephritis, Abnormal spinal cord morphology, Vaginal dryness, Glomerulonephriti... |
ORPHA:289390 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Decreased serum iron, Dystonia, Anemia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |