Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

discs large MAGUK scaffold protein 1
SAP97,  B130052P05Rik,  Dlgh1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dlg1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dlg1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... ORPHA:199306

The table below shows human diseases predicted to be associated to Dlg1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Spinal dysraphism, ... ORPHA:1926
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2487
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas... OMIM:146255
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... ORPHA:3027
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral re... OMIM:617641
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis OMIM:219050
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Thick vermilion border, Narr... OMIM:617564
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Lessel-Kubisch Syndrome
Renal insufficiency, Renal hypoplasia OMIM:618681
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia... OMIM:271520
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... ORPHA:2970
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... OMIM:270420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena... ORPHA:85284
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, ... ORPHA:2470
Macdermot-Winter Syndrome
Death in infancy, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... OMIM:616258
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... OMIM:614080
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis OMIM:617661
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio... ORPHA:96169
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage... OMIM:613390
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... ORPHA:2869
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... OMIM:617914
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Unilateral renal agenesis, Ab... ORPHA:2673
Cataract 42
Cataract, Developmental cataract OMIM:115900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul... ORPHA:217340
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Feeding difficulties in infancy, Inflexible adherence to routines, Aggressive be... OMIM:613670
Intestinal Dysmotility Syndrome
Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Decreased intestinal transit time,... OMIM:620045
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal... OMIM:229850
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Duplicated collecting system, Ureterocele OMIM:191650
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Renal hypoplasia, Respiratory insufficiency OMIM:276950
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cataract OMIM:190330
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Perching Syndrome
Cyanosis, Depressed nasal bridge, Feeding difficulties, High palate, Dysphagia OMIM:617055
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cleft lip, Abnormality of the ... ORPHA:1770
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Micropenis, Hypogonadism, Tooth ... ORPHA:85274
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis, Oral ulcer OMIM:618287
Stillbirth OMIM:265880
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Abnor... ORPHA:227
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Open mouth, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Noonan Syndrome 4
Ureteral duplication, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion border, Hy... OMIM:610733
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula... ORPHA:1834
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Renal hypoplasia, Thin vermilion border, Long philtr... ORPHA:171839
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis ORPHA:85173
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... OMIM:236700
Focal Dermal Hypoplasia
Ureteral duplication, Anteriorly placed anus, Oligodontia, Clitoral hypoplasia, Spina bifida occu... OMIM:305600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Megacystis ORPHA:2241
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi... OMIM:154230
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat... OMIM:610828
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis OMIM:263000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal h... OMIM:618494
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Knobloch Syndrome
Vesicoureteral reflux, Pyloric stenosis, Occipital encephalocele, Bifid ureter ORPHA:1571
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp... OMIM:614922
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Endometrial carcinoma, High, narrow palate, Duplication of renal pelvis, Lo... ORPHA:457212
Noonan Syndrome 9
Hydroureter OMIM:616559
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose ORPHA:2015
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Abnormality of the dentition, Cryptorchi... ORPHA:85321
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Median cleft lip, Renal hypoplasia OMIM:617926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum ORPHA:2256
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Intestinal malrota... ORPHA:2166
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Renal hypoplasia, Gingival overgrowth, Pseudohypoparathyroidism, Thin vermilion b... ORPHA:464288
Mungan Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hypoperistalsis OMIM:611376
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Abdominal distention, Depressed nasal ri... OMIM:613885
Respiratory distress, Acute kidney injury ORPHA:673
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Rudiger Syndrome
Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Hadziselimovic Syndrome
Thick lower lip vermilion, Renal hypoplasia, High palate, Pulmonary artery atresia, U-Shaped uppe... OMIM:612946
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Unilateral renal agenesis ORPHA:52047
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, High palate, Dysphagia, Hydronephrosis OMIM:618578
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood OMIM:604273
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper lip, Hypoplasia ... OMIM:610829
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Macroglossia, Thick vermilion border, Nephroblastoma, Bifid ureter... OMIM:617107
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Na... ORPHA:1307
Marden-Walker Syndrome
Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Cleft palat... OMIM:248700
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... ORPHA:49
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Cryptorchid... OMIM:615982
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor... ORPHA:3411
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Even-Plus Syndrome
Recurrent urinary tract infections, Renal hypoplasia, High palate, Hypodontia, Vesicoureteral ref... OMIM:616854
Microphthalmia With Limb Anomalies
Death in infancy, Short stature, Hypoplasia of the premaxilla, Macrodontia, Micrognathia, Hypopla... ORPHA:1106
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Trisomy 13
Median cleft lip, Abnormality of the dentition, High, narrow palate, Cryptorchidism, Abnormality ... ORPHA:3378
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis ORPHA:1471
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... ORPHA:887
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Ketonuria, Renal hypoplasia OMIM:619053
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Macroglossia, Thick vermil... ORPHA:500095
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Spina bifida occulta, Oc... OMIM:267750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Or... OMIM:175200
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm... OMIM:146510
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Short stature, Micrognathia, Growth delay, Gastroesophageal reflux, Narrow mout... ORPHA:1495
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Microphthalmia, Syndromic 9
Renal malrotation, Pulmonary artery atresia, Cryptorchidism, Agenesis of pulmonary vessels, Renal... OMIM:601186
Emanuel Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Dental crowding, Intestinal... OMIM:609029
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Spina bifida occulta, Cleft ... ORPHA:2311
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per... OMIM:614091
Codas Syndrome
Hydroureter ORPHA:1458
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral ... ORPHA:1355
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Restrictive ve... OMIM:614376
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system, Long philtrum ORPHA:1621
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Tooth agenesis, Multiple renal cysts, Ves... ORPHA:1166
Respiratory distress, Multiple renal cysts ORPHA:66637
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R... ORPHA:97362
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Renal agenesis ORPHA:294975
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarbox... OMIM:608836
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp... ORPHA:83628
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Small Bowel Atresia
Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Abdominal distenti... ORPHA:1201
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting ORPHA:313906
Bowen-Conradi Syndrome
Cryptorchidism, Abnormal lung lobation, Orofacial cleft, Death in infancy ORPHA:1270
Oeis Complex
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... OMIM:258040
Fryns Syndrome
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon... ORPHA:2059
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Renal hypoplasia, Downturned corners of mouth, Oligodontia, Narrow mouth OMIM:616817
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Dental crowding, Unilateral renal ag... ORPHA:96170
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, High palate, Umbilical hernia, Ureteral triplication, Hydronephrosis OMIM:104350
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Renal hypoplasia, Cle... OMIM:616300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat... ORPHA:564
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Cryptorchidism, Abnormality of the ureter, Hypo... ORPHA:3409
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi... ORPHA:2237
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Smooth philtrum OMIM:193500
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Cach Syndrome
Premature ovarian insufficiency, Renal hypoplasia, Primary amenorrhea, Secondary amenorrhea, Gona... ORPHA:135
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Widely spaced teeth, Hydron... OMIM:619797
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Abnormality of the... ORPHA:2315
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilical hernia ORPHA:95719
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Abnor... ORPHA:247768
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Cleft lip, Recurrent upper respiratory tra... OMIM:616784
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Short stature, Anteverted nares, Renal agenesis, Broad ... OMIM:615583
Ulnar-Mammary Syndrome
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Ect... ORPHA:3138
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation, Respiratory distress OMIM:616733
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Bicornuate uter... OMIM:264480
Isolated Atp Synthase Deficiency
Respiratory distress, 3-Methylglutaconic aciduria, Renal hypoplasia ORPHA:254913
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Clitoral hypertrophy, Periphera... OMIM:300707
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Micrognathia, Abdominal distention, Long philtrum, Umbili... ORPHA:93299
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... ORPHA:199306
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormal re... ORPHA:1666
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Intellectual Disability, Wolff Type
Hypospadias, Cryptorchidism, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, A... ORPHA:3080
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... OMIM:300048
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Abnormality of the urinary system, High pala... ORPHA:1695
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Short stature, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Rob... OMIM:613604
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis OMIM:619887
Peters Plus Syndrome
Ureteral duplication, Clitoral hypoplasia, Abnormal pulmonary vein morphology, Widely spaced teet... ORPHA:709
Qazi-Markouizos Syndrome
Prominent nasal bridge, Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic c... ORPHA:3010
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Congenital Myopathy 17
Tented upper lip vermilion, Respiratory tract infection, Dental malocclusion, Renal hypoplasia, C... OMIM:618975
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Pierpont Syndrome
Wide nose, Short stature, Broad nasal tip, Short nose, Feeding difficulties, Broad philtrum, Prom... OMIM:602342
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Abnormality of the ureter, High palate ORPHA:1035
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... OMIM:122470
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Pu... OMIM:191830
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Restrictive Dermopathy 2
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas... OMIM:619793
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Death in infancy, Spina bifida, Pancreatic cysts, Dilata... OMIM:274000
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Isolated Hemihyperplasia
Cryptorchidism, Nephroblastoma, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Microphthalmia, Syndromic 12
Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornuate uterus, Pulmonary hypoplasia, Ne... OMIM:615524
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ure... ORPHA:2052
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Renal hypoplasi... OMIM:603467
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Nager Syndrome
Respiratory insufficiency, Unilateral renal agenesis ORPHA:245
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla... OMIM:617595
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation ORPHA:95713
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,... ORPHA:261344
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Renal hypoplasia, Renal cyst, Dysphagia, Vesico... OMIM:618460
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Abnormal palate morphology ORPHA:2022
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Renal hypoplasia/aplasia, Cryptorchidism,... ORPHA:2863
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Aminoaciduria, Proximal tubulopathy OMIM:612075
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Apnea OMIM:615228
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Abnormal dental morphology, Hypospadias ORPHA:2522
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst OMIM:174050
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis OMIM:614576
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Anal atresia, Horseshoe kidney OMIM:619318
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Renal hypoplasia/aplasia OMIM:267400
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Micrognathia, Postnatal growth retardation, Feeding diffi... OMIM:615419
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Micropenis, Bifid... ORPHA:672
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Umbilical hernia, Hypoplastic labia majora, Hydronephrosis OMIM:619217
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Abnorma... ORPHA:2412
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Wide mouth, Ectopic anus, High pa... ORPHA:1703
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Juvenile cataract, Short stature, Depressed nasal bridge, Growth delay,... ORPHA:438178
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Encephalopathy Due To Sulfite Oxidase Deficiency
Nausea and vomiting, Ectopia lentis, Feeding difficulties in infancy, Aminoaciduria, Thick vermil... ORPHA:833
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Cryptorchidism, Thick lower lip vermi... OMIM:618950
Cataract 47
Microcornea, Cataract OMIM:612018
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Deep philtrum, High palate, Everte... ORPHA:261120
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality... ORPHA:289
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology,... ORPHA:1655
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Cleft palate, Narrow mouth ORPHA:2901
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplas... ORPHA:1027
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Micrognathia, Aggressive behavior, Feeding difficulties, Thin verm... OMIM:617991
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal lung lobation, Horseshoe kidney, ... ORPHA:3097
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis OMIM:619951
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine ORPHA:26792
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias, Gastroesophageal reflux ORPHA:250994
Joubert Syndrome 37
Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decreased testicular size OMIM:619185
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Restrictive ventil... OMIM:616414
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion... OMIM:179613
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Downturned corners of mouth, Th... ORPHA:85282
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Abnormality of the anterior pituitary, Renal hypoplasia, Posterior pit... ORPHA:75389
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Death in infancy, Organic aciduria, Neonatal death OMIM:617184
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Small scrotum, Supernumerary nipple, Cleft lip, Cryptorchidism, Renal h... OMIM:618454
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Micrognathia, Protuberant abdomen, Umbilical hernia, Ne... OMIM:618272
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Small scrotum, Abnormal dental morphology, Abnormal dental enam... ORPHA:3253
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Anenceph... OMIM:269860
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Genitopalatocardiac Syndrome
Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Gonadal dysgenesis, male OMIM:231060
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Cryptorchidism, Large placenta, Abnormal pancreas morpholog... ORPHA:116
Desmoid Tumor
Intestinal polyposis, Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the upp... ORPHA:873
Short nose, Abnormal renal morphology, Depressed nasal ridge, Protuberant abdomen ORPHA:221054
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia OMIM:613730
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Astig... OMIM:614753
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney OMIM:609053
Trisomy 20P
Smooth philtrum, Macroorchidism, Hypospadias, Abnormality of the kidney, Spina bifida, Abnormalit... ORPHA:261318
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Craniosynostosis, Herrmann-Opitz Type
Short stature, Abnormality of the upper urinary tract, Micrognathia, Abnormality of the urethra, ... ORPHA:2145
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Severe short stature, Death in childhood OMIM:302000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Corneal opacity, Thin vermilion border, Narrow mouth, Intrauterine growth retardat... ORPHA:2370
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Ureteral duplication, Recurrent respiratory infections, Accessory oral frenulum,... OMIM:266920
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ... ORPHA:79409
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Bifid uvula OMIM:617660
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... OMIM:256300
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Death in childhood OMIM:615597
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Broad n... OMIM:619736
Schimke Immuno-Osseous Dysplasia
Short stature, Proteinuria, Depressed nasal bridge, Minimal change glomerulonephritis, Broad nasa... ORPHA:1830
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Ant... OMIM:261540
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Abnormal palate morphology ORPHA:1381
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder OMIM:300076
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned corners of m... ORPHA:531151
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... OMIM:613662
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, F... OMIM:614744
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Cryptorchidism, Cleft palate, ... ORPHA:95706
Meacham Syndrome
Death in infancy, Congenital alveolar dysplasia, Septate vagina, Male pseudohermaphroditism, Part... OMIM:608978
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, F... OMIM:613544
Trisomy 4P
Smooth philtrum, Hypospadias, Abnormality of the dentition, Carious teeth, Cryptorchidism, Abnorm... ORPHA:1738
Currarino Syndrome
Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sept... OMIM:176450
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Renal hypoplasia/aplasia, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Hydronep... ORPHA:3305
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Cataract, Feeding difficulties in infancy, Short nose OMIM:618379
Nephrogenic rest, Depressed nasal bridge, Micrognathia, Disproportionate short-trunk short statur... OMIM:608022
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... OMIM:614083
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Hydronephrosis OMIM:607598
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi... ORPHA:3363
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Toluene Embryopathy
Cryptorchidism, Abnormal localization of kidney, Thin vermilion border, Hydronephrosis, Smooth ph... ORPHA:1920
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, High, narrow palate, Short n... ORPHA:2849
Pallister-Hall-Like Syndrome
Death in infancy, Occipital encephalocele, Median cleft lip, Short stature, Depressed nasal bridg... OMIM:241800
Tonne-Kalscheuer Syndrome
Short stature, Hypospadias, Prominent nasal bridge, Micrognathia, Prominent nose, Narrow mouth, V... OMIM:300978
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Alveolar ridge ov... OMIM:235255
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Bilateral cryptorchidism, Micropenis OMIM:300982
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Umbilical hernia, Malar flattening, Neonatal short-limb short s... OMIM:600972
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,... ORPHA:819
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobati... OMIM:270400
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycystic ovaries, Ect... ORPHA:1580
Clark-Baraitser Syndrome
Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Anteverted nares, Depressed nas... OMIM:617752
Chand Syndrome
Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph... ORPHA:1401
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Oliver-Mcfarlane Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth ... OMIM:275400
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Frontometaphyseal Dysplasia 1
Stridor, Hydroureter, Hydronephrosis OMIM:305620
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Orofacial cleft, Cleft palate, Wide mouth... ORPHA:261290
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec... ORPHA:49041
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Lowry-Maclean Syndrome
Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard palate, Hydropic placenta, S... OMIM:275210
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow... ORPHA:1839
12Q14 Microdeletion Syndrome
Intestinal malrotation, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Downturned corners of... ORPHA:94063
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Cry... ORPHA:912
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Protein-los... OMIM:608104
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Abnormal lung lobation... ORPHA:99776
Acrofacial Dysostosis, Catania Type
Carious teeth, Cryptorchidism, Spina bifida occulta, Hypospadias OMIM:101805
Baker-Gordon Syndrome
Thin upper lip vermilion, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux,... OMIM:618218
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Raine Syndrome
Neonatal death, Death in infancy, Hydroureter, Hydronephrosis OMIM:259775
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Respiratory distress ORPHA:289916
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsor... ORPHA:92050
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Abnormal lung lobation, Orofacial cleft, Aplasia/Hy... ORPHA:3301
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Hypospadias, Cryptorchidism, Dent... OMIM:615546
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Short stature, Hypospadias, Anteverted nares, Micrognathia, ... OMIM:613026
Recon Progeroid Syndrome
Prominence of the premaxilla, Short stature, Dental crowding, Anteverted nares, Narrow nasal ridg... OMIM:620370
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Peho-Like Syndrome
Open mouth, Retrognathia, Short nose, Feeding difficulties OMIM:617507
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip ORPHA:3316
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Ectopic kidney ORPHA:2578
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Cleft palate, Downturned corner... ORPHA:457193
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Narrow palate, Micropenis, Short upper lip, Thick vermilion border, Short philtru... ORPHA:364028
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Renal hypopl... OMIM:619758
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr... OMIM:602418
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Short stature, Abnormality of the kidney, Abdominal distention, Growth delay, Delaye... ORPHA:369
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... OMIM:619445
Frontonasal Dysplasia 1
Median cleft lip, Cataract, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplas... OMIM:136760
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Genitopatellar Syndrome
Delayed eruption of teeth, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroeso... ORPHA:85201
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pleural lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal prola... OMIM:235510
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Long philtrum, ... ORPHA:401935
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnorma... ORPHA:847
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Anteverted nares, Feeding difficulties, Wide mouth, Delayed eruption of ... OMIM:618506
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Cons... ORPHA:226313
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451