banner
Genes Phenotypes Help, News, Blog

Gene: Ephb2 MGI:99611

Log in to follow

Gene Summary

Name:
Eph receptor B2
Synonyms:
Erk,  Drt,  Prkm5,  Cek5,  Qek5,  Sek3,  eteck,  Hek5,  Tyro5,  Nuk

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Ephb2em1(IMPC)Mbp HOM Early adult 0.00
increased exploration in new environment Ephb2em1(IMPC)Mbp HOM   Early adult 1.97×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

33 Images

View images

Human diseases caused by Ephb2 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 Ephb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer OMIM:603688
Bleeding Disorder, Platelet-Type, 22
OMIM:618462

The table below shows human diseases predicted to be associated to Ephb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Isolated Micropenis
Hypospadias, Ambiguous genitalia, Micropenis ORPHA:95707
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Microphallus, Cryptorchidism, Corpus cavernosum hypoplasia, Perineal hypospa... OMIM:615542
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus OMIM:301800
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Micropenis OMIM:264600
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid scrotum, Ambiguous gen... ORPHA:753
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Bifid clitoris, Anteriorly displaced urethral meatus... ORPHA:93928
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias ORPHA:261204
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... ORPHA:325345
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism ORPHA:356996
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... ORPHA:100973
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... OMIM:250790
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, High palate, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchi... ORPHA:456328
46,Xy Sex Reversal 6
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... OMIM:613762
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Agenesis of corpus callosum, Dysgenesis of the basal ganglia, Hy... OMIM:600638
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Currarino Syndrome
Vesicoureteral reflux, Bifid scrotum, Hypoplasia of penis, Abnormal intestine morphology, Hypospa... ORPHA:1552
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias OMIM:302905
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Neph... OMIM:194072
Duplication Of Urethra
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... ORPHA:237
Bardet-Biedl Syndrome 8
Hypospadias, Hypogonadism, Renal dysplasia OMIM:615985
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... OMIM:191800
Lambert Syndrome
Hypospadias OMIM:245550
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Image Syndrome
Hydronephrosis, Hypospadias, Hypogonadism, Cryptorchidism ORPHA:85173
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
Schizophrenia 15
Hyperactivity OMIM:613950
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Anal atresia, Cryptorchidism ORPHA:1381
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Azoospermia, Male pseudohermaphroditism, Crypt... OMIM:312300
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Congenital Short Bowel Syndrome
Intestinal malrotation, Displacement of the urethral meatus, Intestinal hypoplasia ORPHA:2301
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Genitopalatocardiac Syndrome
Renal cyst, Cleft palate, Hypospadias, Gonadal dysgenesis, male OMIM:231060
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism ORPHA:250994
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Perineal hypospadias, Bifid scrotum, Mi... OMIM:201810
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, High palate, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, ma... OMIM:300219
Penoscrotal Transposition
Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormali... ORPHA:2842
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Bifid scrotum, Anal atresia, Urethral diverticulum, Ventral shortening of for... ORPHA:95706
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Hypoplasia of penis, Nephrolithiasis ORPHA:1816
Mosaic Trisomy 14
High palate, Ectopic anus, Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate ORPHA:1703
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Lissencephaly, Microcephaly, Pachygyria, Hypoplasia of the corpu... OMIM:618325
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
Bardet-Biedl Syndrome 6
External genital hypoplasia, Vaginal atresia, Hypospadias, Renal cyst OMIM:605231
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micropenis, Cryptorchidism OMIM:612626
Serkal Syndrome
Hypoplasia of the bladder, Sex reversal, Malrotation of small bowel, Renal agenesis, Hypospadias,... ORPHA:139466
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism OMIM:101805
Lumbar Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Renal duplication, Ectopic anus, Bifid scrotum, Renal... ORPHA:83628
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology ORPHA:1548
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Sma... ORPHA:300570
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Anal atresia, Rectal atresia ORPHA:3016
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis ORPHA:1046
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Hypospadias, Cryptorchidism ORPHA:3080
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... OMIM:236730
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Renal hypoplasia/aplasia, Hypospadias, Renal dysplasia ORPHA:2508
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Bladder Exstrophy And Epispadias Complex
Bifid clitoris, Hydroureter, Unilateral renal agenesis, Epispadias, Anteriorly placed anus, Horse... OMIM:600057
Primary Dystonia, Dyt13 Type
Jerky head movements, Abnormal repetitive mannerisms ORPHA:98807
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Micropenis, Cryptorchidism OMIM:301830
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Micropenis, Cryptorchidism OMIM:618815
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements OMIM:300624
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal localization of kidney, Cryptorchidism, Cleft palate, Coronal hypospadias ORPHA:921
Cleft Palate-Large Ears-Small Head Syndrome
Cleft palate, Hypospadias ORPHA:2013
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Bladder Exstrophy
Vesicoureteral reflux, Abnormality of the clitoris, Abnormality of the anus, Recurrent urinary tr... ORPHA:93930
Trisomy 4P
Hypospadias, Cryptorchidism ORPHA:1738
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Nephrotic syndrome, Shawl scrotum, Hypospadias, Gastritis, Glandular hypospadias ORPHA:2575
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Hydrocephalus, Optic atrophy OMIM:619470
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias OMIM:300934
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Hypospadias, Cryptorchidism OMIM:300997
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... ORPHA:352490
Diphallia
Duplicated colon, Renal duplication, Abnormal spermatogenesis, Bifid scrotum, Renal malrotation, ... ORPHA:227
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Micropenis, Hypercalciuria, Cryptorchidism OMIM:614732
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Male hypogonadism, Hypospadias, Hypergonadotropic hypogonadism, Crypto... ORPHA:163971
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cryptorchidism OMIM:620135
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Abnormal head movements ORPHA:382
Lambert Syndrome
Hypospadias ORPHA:1296
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Midshaft hypospadias, Renal hypoplasia/aplasia, Anal atresia, Cryptorchidism ORPHA:2863
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias OMIM:301045
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Martinez-Frias Syndrome
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop... OMIM:601346
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Abnormal vagina morphology, Nephroblastoma, Abnormality of t... ORPHA:251510
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias OMIM:618688
Acrocallosal Syndrome
Hypospadias, Cryptorchidism ORPHA:36
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Hypospadias OMIM:300919
Seckel Syndrome 2
Ectopic kidney, Hypospadias, Microglossia OMIM:606744
Interstitial Cystitis
Pollakisuria, Urinary urgency, Abnormal labia morphology, Nocturia, Abnormality of the bladder, U... ORPHA:37202
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Hypospadias, Cryptorchidism, High, narrow palate, Micropenis ORPHA:2872
Wagr Syndrome
Ambiguous genitalia, Displacement of the urethral meatus, Cryptorchidism ORPHA:893
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism ORPHA:2377
Silver-Russell Syndrome 1
Nephroblastoma, Congenital posterior urethral valve, Testicular seminoma, Abnormality of the uret... OMIM:180860
Behavioral Variant Of Frontotemporal Dementia
Disinhibition, Restlessness, Collectionism, Abnormal repetitive mannerisms ORPHA:275864
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia, Hypospadias, Bifid uterus, Rect... OMIM:617466
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Meckel Syndrome, Type 10
Bifid uvula, Renal cyst, Hypospadias, Cleft palate, Micropenis OMIM:614175
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias OMIM:618330
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Decreased testicular size, Hypospadias, Cryptorchidism, 3-Methylglut... OMIM:610198
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Macroglossia, Hypospadias, Cryptorchidism, Micropenis OMIM:300354
Vacterl/Vater Association
Hydronephrosis, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Renal agenesis,... ORPHA:887
Goldberg-Shprintzen Megacolon Syndrome
Cleft palate, Hypospadias, Aganglionic megacolon, Bifid scrotum ORPHA:66629
Fetal Trimethadione Syndrome
Ambiguous genitalia, High palate, Hypospadias ORPHA:1913
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Teebi Hypertelorism Syndrome 2
Cleft palate, Hypospadias, High palate OMIM:619736
Tonne-Kalscheuer Syndrome
Decreased testicular size, Velopharyngeal insufficiency, Hypospadias, Cryptorchidism, Micropenis OMIM:300978
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Hydrocele testis OMIM:618972
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, High palate ORPHA:544254
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Esophageal atresia ORPHA:1923
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Horseshoe kidney, Hypospadias, Cryptorchidism OMIM:218350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Hypospadias OMIM:619759
Renpenning Syndrome
Decreased testicular size, Anal atresia, Hypospadias, Cleft palate, High, narrow palate ORPHA:3242
Acrofrontofacionasal Dysostosis 2
Hypospadias, High palate, Bifid scrotum, Shawl scrotum OMIM:239710
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... ORPHA:1772
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruc... OMIM:140000
Foxg1 Syndrome
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing ORPHA:561854
Silver-Russell Syndrome Due To A Point Mutation
Abnormality of the scrotum, Microphallus, Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate ORPHA:397590
Stankiewicz-Isidor Syndrome
Shawl scrotum, Hypospadias, Cryptorchidism, Micropenis, Ureteral duplication OMIM:617516
Female Restricted Epilepsy With Intellectual Disability
Compulsive behaviors, Impulsivity, Hyperactivity, Abnormal eating behavior ORPHA:101039
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, External genital hypoplasia, Decreased testicular size, Hypospadias, Ovotest... OMIM:610644
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Varicocele, Cryptorchidism, Micropenis ORPHA:8
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased testicular size, Ambiguous genitalia, male, Azoospermia, R... ORPHA:90791
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Esophageal atresia, Renal dysplasia, R... ORPHA:2538
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias OMIM:615761
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms ORPHA:530983
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Bicornuate uterus, Recurrent urinary tract infections, Abnormality of the ... ORPHA:2438
Diamond-Blackfan Anemia 5
Hypospadias OMIM:612528
Craniofrontonasal Dysplasia
Hypospadias, High palate, Shawl scrotum ORPHA:1520
Arthrogryposis Multiplex Congenita 6
Hypospadias OMIM:619334
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Repetitive compulsive behavior, Compulsive behaviors, Optic nerve hypoplasia, Atte... ORPHA:401777
Triploidy
Ambiguous genitalia, Hypoplasia of penis, Macroglossia, Intestinal malrotation, Hypospadias, Cryp... ORPHA:3376
Omodysplasia 2
Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Cleft palate, Uterus didelph... OMIM:164745
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism OMIM:175700
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:313892
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Ectopic anus, Renal hypoplas... ORPHA:2473
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Sex reversal, Renal agenesis, Hypospadias, Ovotestis, Cleft palate OMIM:611812
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, ... ORPHA:2075
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, Cryptorchidism ORPHA:77298
Seckel Syndrome 5
High palate, Hypospadias, Cryptorchidism, Cleft palate, Clitoral hypertrophy OMIM:613823
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Christianson Syndrome
Macrotia, Abnormal repetitive mannerisms, Dysphagia ORPHA:85278
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Abnormal repetitive mannerisms ORPHA:228402
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria OMIM:619428
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Cryptorchidism ORPHA:1194
Non-Syndromic Anorectal Malformation
Ectopic anus, Persistent cloaca, Anal atresia, Hypospadias, Rectovaginal fistula, Hydrocolpos, Re... ORPHA:557
Chromosome 16Q22 Deletion Syndrome
Hypospadias, High palate, Cryptorchidism OMIM:614541
Johanson-Blizzard Syndrome
Hydronephrosis, Malabsorption, Hypoplasia of penis, Anal atresia, Abnormal vagina morphology, Ant... ORPHA:2315
Cree Mental Retardation Syndrome
Hypospadias, Cleft soft palate, Bifid scrotum, Cryptorchidism OMIM:606851
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Hypospadias ORPHA:79350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Hypospadias, Renal atrophy, Cryptorchidism OMIM:618659
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms ORPHA:391307
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Cryptorchidism OMIM:614613
15Q24 Microdeletion Syndrome
Microphallus, Anal atresia, Hypospadias, Cryptorchidism, Intestinal atresia ORPHA:94065
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Hypospadias,... OMIM:619314
Juberg-Hayward Syndrome
Anteriorly placed anus, Hypospadias, Horseshoe kidney ORPHA:2319
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, High palate, Cryptorchidism ORPHA:98791
Multiple Benign Circumferential Skin Creases On Limbs
Abnormality of the scrotum, Hypospadias, Cryptorchidism, Cleft palate, Small scrotum ORPHA:2505
Acrofrontofacionasal Dysostosis
Cleft palate, Hypospadias, High palate, Bifid scrotum ORPHA:1784
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior ORPHA:319671
Huntington Disease-Like 1
Restlessness, Jerky head movements, Abnormal head movements ORPHA:157941
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Velopharyngeal insufficiency, Anal... ORPHA:363444
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Ritscher-Schinzel Syndrome 1
Cleft palate, Hypospadias, Anal atresia, Hydronephrosis OMIM:220210
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Labial hypoplasia, Hypospadias, Cryptorchidism, Enuresis OMIM:619293
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadias OMIM:616489
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe ORPHA:411986
Oeis Complex
Duplicated colon, Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter... OMIM:258040
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Renal dysplasia, Hypospadias, High palate, Cryptorchidism OMIM:300004
Marden-Walker Syndrome
High palate, Pyloric stenosis, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate, High,... OMIM:248700
Ocular Motor Apraxia
Jerky head movements OMIM:257550
22Q11.2 Duplication Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, A... ORPHA:1727
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Recurrent urinary tract infections, Submucous cleft hard palate, Hypospadi... OMIM:619103
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Abnormal repetitive mannerisms ORPHA:3306
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Abnormality of the kidne... OMIM:137920
Opitz Gbbb Syndrome
Vesicoureteral reflux, High palate, Congenital posterior urethral valve, Anal atresia, Hypospadia... OMIM:300000
Schilbach-Rott Syndrome
Hypospadias, Bifid uvula, Submucous cleft hard palate OMIM:164220
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, High palate, Cryptorchidism ORPHA:2115
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Bicornuate uterus, Acute kidne... ORPHA:93111
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias OMIM:177980
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Bifid scrotum, Bil... ORPHA:90793
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Small scrotum, Micropenis, Cryptorchidism OMIM:607143
Short Stature-Micrognathia Syndrome
High palate, Penoscrotal hypospadias, Cryptorchidism, Cleft palate, Small scrotum, Micropenis OMIM:617164
Exstrophy-Epispadias Complex
Absent penis, Renal dysplasia, Bladder fistula, Bifid uterus, Abnormality of the ureter, Bifid pe... ORPHA:322
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Cryptorchidism ORPHA:500159
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Hypospadias, Cryptorchidism OMIM:618316
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Childhood Absence Epilepsy
Jerky head movements, Attention deficit hyperactivity disorder, Punding ORPHA:64280
3C Syndrome
Ectopic anus, Hypoplasia of penis, Anal atresia, Intestinal malrotation, Hypospadias, Cleft palat... ORPHA:7
Mirage Syndrome
Esophageal stricture, Shawl scrotum, Decreased testicular size, Microphallus, Recurrent urinary t... OMIM:617053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Hypospadias, Micropenis, Hydronephrosis OMIM:616897
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Cryptorchidism ORPHA:435938
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias OMIM:617751
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Abnormal repetitive mannerisms ORPHA:238750
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hypospadias, Cryptorchidism ORPHA:494344
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Narrow palate, Pyloric stenosis, Hypospadias, Cryptorch... ORPHA:96169
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Ectopic anus, Bicornuate uterus... ORPHA:2059
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Macrotia, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention defic... ORPHA:449291
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly OMIM:616975
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Megarectum, Hypospadias, Duplicated collecting system, Cryptorchidism, Mic... OMIM:301056
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping, Agitation OMIM:617903
Zellweger Syndrome
Multicystic kidney dysplasia, High palate, Malabsorption, Pyloric stenosis, Hypospadias, Cryptorc... ORPHA:912
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp, Hypospadias, Cryptorchidism ORPHA:457485
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypospadias OMIM:618156
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Short uvula, Renal hypoplasia,... OMIM:614091
Kleefstra Syndrome 1
Macroglossia, Hypospadias, Protruding tongue, Cryptorchidism, Abnormal renal morphology, Micropenis OMIM:610253
Silver-Russell Syndrome
Precocious puberty, Decreased testicular size, Hypospadias, Cryptorchidism, Abnormality of the ur... ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias OMIM:618253
3Mc Syndrome 3
Bifid scrotum, Penoscrotal hypospadias, Horseshoe kidney, Cryptorchidism, Cleft palate, Micropenis OMIM:248340
Axenfeld-Rieger Syndrome
Hypospadias, Anal stenosis ORPHA:782
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Cryptorchidism, Cleft palate, Abnormal morphology of fema... ORPHA:2311
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:10
Distal Monosomy 9P
Cleft palate, Hypospadias, Hypoplastic labia majora, High, narrow palate ORPHA:1642
Severe Congenital Nemaline Myopathy
Hypospadias, Micropenis ORPHA:171430
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618336
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anal stenosis, Cryptorchidism OMIM:601499
Cri-Du-Chat Syndrome
High palate, Abnormality of the kidney, Bifid uvula, Hypospadias, Cryptorchidism OMIM:123450
Maternal Uniparental Disomy Of Chromosome 2
Renal dysplasia, Bilateral cryptorchidism, Hypospadias, Renal insufficiency, Chordee ORPHA:96179
Intellectual Disability-Strabismus Syndrome
High palate, Medullary nephrocalcinosis, Hypospadias, Cryptorchidism, Micropenis ORPHA:363528
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hypoplastic helices ORPHA:391372
Lowry-Maclean Syndrome
Midgut malrotation, Pyloric stenosis, Bilateral cryptorchidism, Hypospadias, Cleft palate, High, ... ORPHA:2409
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... ORPHA:90796
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias ORPHA:3224
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Epispadias, Abnormality of the bladder, Hypospadias, Abnormality of the ur... ORPHA:3339
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Orofaciodigital Syndrome Type 4
Decreased testicular size, Renal hypoplasia/aplasia, Rectovaginal fistula, Bifid uvula, Submucous... ORPHA:2753
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, High palate, Ankyloglossia, Hypospadias, Bilateral cleft lip and palate OMIM:618874
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Micropenis, Cryptorchidism OMIM:619718
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft palate, Vaginal dryness, Micropenis, Hypospadias OMIM:106260
Three M Syndrome 1
Decreased testicular size, Hypospadias OMIM:273750
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Agitation ORPHA:927
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, High palate ORPHA:363686
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Cryptorchidism, Cleft palate, Hi... ORPHA:3378
19P13.12 Microdeletion Syndrome
Cleft palate, Hypospadias, Precocious puberty, Cryptorchidism ORPHA:254346
Kleefstra Syndrome
Vesicoureteral reflux, Pyloric stenosis, Hypoplasia of penis, Macroglossia, Renal cyst, Hypospadi... ORPHA:261494
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia OMIM:619859
Cdags Syndrome
Anal atresia, Hypospadias, Cleft palate, Rectovaginal fistula, Rectourethral fistula OMIM:603116
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Bifid scrotum, Pyloric stenosis, Penoscrotal transposition, Anal atresia, Anteriorly... OMIM:619148
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, High palate OMIM:619272
Myhre Syndrome
Precocious puberty, Hypogonadism, External genital hypoplasia, Bifid uvula, Submucous cleft hard ... ORPHA:2588
19Q13.11 Microdeletion Syndrome
Hypospadias, Bifid scrotum, Cryptorchidism ORPHA:217346
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, High palate, Cryptorchidism OMIM:300260
Basel-Vanagaite-Smirin-Yosef Syndrome
High palate, Hypospadias, Furrowed tongue, Cleft palate, Clitoral hypertrophy, Hydronephrosis OMIM:616449
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, High palate, Hypospadias, Cryptorchidism, Cleft palate, Renal insuffic... OMIM:611209
Scarf Syndrome
Perineal hypospadias, Micropenis, Bifid scrotum, Cryptorchidism ORPHA:3134
Transketolase Deficiency
Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Com... ORPHA:488618
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Hyp... OMIM:257300
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Hyperactivity, Stereotypical hand wringing ORPHA:163681
Rett Syndrome
Abnormal autonomic nervous system physiology, Abnormal repetitive mannerisms, Agitation, Stereoty... ORPHA:778
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... ORPHA:168558
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Abnormal repetitive mannerisms ORPHA:457240
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Shawl scrotum, Hypospadias, Cryptorchidism, Cleft palate, Micropenis OMIM:600460
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Anteriorly placed anus, Chordee, Hypospadias, Colonic atresia, Ovotestis, Cleft pal... OMIM:309801
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
High palate, Narrow palate, Shawl scrotum, Hypoplastic labia majora, Hypospadias, Glandular hypos... OMIM:604314
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cleft soft palate, Shawl scrotum, Submucous cleft soft palate, Hypospadias, Male pseudohermaphrod... ORPHA:2282
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Shawl scrotum, Epispadias, Hypospadias, Abnormal penis morphology ORPHA:2211
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... ORPHA:289548
Marden-Walker Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormal... ORPHA:2461
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... OMIM:612651
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Cryptorchidism OMIM:618109
Trisomy 20P
Macroorchidism, Ectopic anus, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, ... ORPHA:261318
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:98784
Pde4D Haploinsufficiency Syndrome
Hypospadias, Cryptorchidism ORPHA:439822
Trisomy 8Q
Bifid tongue, High palate, Hypoplasia of penis, Cryptorchidism, Cleft palate, Displacement of the... ORPHA:1752
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms ORPHA:168491
Seckel Syndrome 1
High palate, Hypospadias, Cryptorchidism, Cleft palate, Clitoral hypertrophy OMIM:210600
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Meier-Gorlin Syndrome 7
Vesicoureteral reflux, High palate, Urethral stricture, Anal atresia, Duodenal stenosis, Anterior... OMIM:617063
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Bifid scrotum, Cryptorchidism OMIM:613026
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Fg Syndrome Type 1
High palate, Abnormal large intestine morphology, Pyloric stenosis, Anal atresia, Hypospadias, Cr... ORPHA:93932
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation OMIM:607485
Beare-Stevenson Cutis Gyrata Syndrome
High palate, Narrow palate, Bifid scrotum, Bifid uvula, Hypoplastic labia majora, Anteriorly plac... OMIM:123790
Contractures-Developmental Delay-Pierre Robin Syndrome
Cleft palate, Hypospadias, High, narrow palate, Glossoptosis ORPHA:436003
Nizon-Isidor Syndrome
Hypospadias, High, narrow palate OMIM:618872
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Renal hypoplasia/aplasia, Hypoplasia of penis, Anal atresia, Intestinal malr... ORPHA:2166
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Renal insufficiency, Mild proteinuria OMIM:619147
Chromosome 9P Deletion Syndrome
High palate, Narrow palate, Hypospadias, High, narrow palate, Micropenis OMIM:158170
Ohdo Syndrome, Sbbys Variant
Cleft palate, Hypospadias, Cryptorchidism OMIM:603736
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Shawl scrotum, Renal agenesis, Macroglossia, Hypospadias, Protruding tongue, Cryptorchidism, Micr... OMIM:301040
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Progeria-Short Stature-Pigmented Nevi Syndrome
Micropenis, Hypospadias, Bifid uvula, Hypergonadotropic hypogonadism ORPHA:2959
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, High palate, Ectopic anus, Bicornuate u... ORPHA:2745
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Ear-Patella-Short Stature Syndrome
Hypoplastic labia minora, Bifid uvula, Hypoplastic labia majora, Hypoplasia of penis, Submucous c... ORPHA:2554
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Anal atresia, Intestinal malrotation, Hypospadias, Cryptorchidism OMIM:617602
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High palate, Macroglossia, Hypospadias, Protruding tongue, Albuminuria, Cryptorchi... OMIM:214100
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive m... ORPHA:435638
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, High palate, Pyloric stenosis, Hypoplastic labia majora, Renal cyst, Reduc... OMIM:122470
Smith-Magenis Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:819
Van Maldergem Syndrome 2
High palate, Bifid scrotum, Anteriorly placed anus, Hypospadias, Cryptorchidism, Renal hypoplasia... OMIM:615546
Acrofacial Dysostosis, Catania Type
Hypospadias, Cryptorchidism ORPHA:1786
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Cryptorchidism, Hydronephrosis ORPHA:568
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Cleft palate, Glandular hypospadias, Glossoptosis,... ORPHA:1358
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Bilateral cryptorchidism, Hypoplasia of penis, Perineal hypospadias ORPHA:66634
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Abnormal repetitive mannerisms ORPHA:261144
Chromosome 18Q Deletion Syndrome
Bifid uvula, Hypospadias, Cryptorchidism, Cleft palate, Micropenis OMIM:601808
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Attention deficit hyperactivity ... ORPHA:261197
Cystinosis
Abnormal repetitive mannerisms, Polydipsia ORPHA:213
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism OMIM:225500
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Decreased testicular size, Bilateral cryptorchidism, Hypospadias, Cryptorchidism OMIM:300998
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, High palate, Hypospadias, Cryptorchidism, Renal insuffic... OMIM:300661
Acrocardiofacial Syndrome
Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism, Cleft palate ORPHA:2008
Scarf Syndrome
Perineal hypospadias, Micropenis, Bifid scrotum, Cryptorchidism OMIM:312830
20Q13.33 Microdeletion Syndrome
Decreased scrotal rugation, Hypospadias ORPHA:261311
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cleft palate, Hypospadias, Anteriorly placed anus, Cryptorchidism OMIM:217980
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Jejunal atresia, Hypospadias, Ileal atresia, Gonadal dysgenesis, Crypto... OMIM:618820
Ring Chromosome 12 Syndrome
Glandular hypospadias, Uterine leiomyoma, High, narrow palate, Cryptorchidism ORPHA:1439
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:397612
Distal Trisomy 5Q
Hypospadias, Cryptorchidism ORPHA:96097
Thoracoabdominal Syndrome
Cleft palate, Hypospadias, Renal agenesis OMIM:313850
Meier-Gorlin Syndrome 3
Hypoplastic labia minora, Hypospadias, Cryptorchidism, Small scrotum, Micropenis, Clitoral hypert... OMIM:613803
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Penile hypospadias, High palate, Congenital posterior urethral valve, Hypospadias, Horseshoe kidn... OMIM:620083
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Optic atrophy, Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
8P23.1 Microdeletion Syndrome
Hypospadias, High palate, Cryptorchidism ORPHA:251071
Van Maldergem Syndrome 1
High palate, Anal atresia, Anteriorly placed anus, Hypospadias, Renal hypoplasia OMIM:601390
7Q11.23 Microduplication Syndrome
Hyperactivity, Hydrocephalus, Abnormal optic disc morphology, Abnormal repetitive mannerisms, Lar... ORPHA:96121
Fanconi Anemia
Abnormal testis morphology, Abnormality of the urinary system, Cleft palate, Aplasia/Hypoplasia o... ORPHA:84
Bosma Arhinia Microphthalmia Syndrome
High palate, Hypoplastic labia majora, Hypospadias, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:603457
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Ambiguous genitalia, Abnormality of female external genitalia, Increased s... ORPHA:95699
Takenouchi-Kosaki Syndrome
Hydronephrosis, Hypospadias, Unilateral renal agenesis, Cryptorchidism OMIM:616737
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer OMIM:603688
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Abnormality of the ... ORPHA:289
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Cleft palate, Hypospadias OMIM:619184
Microphthalmia, Syndromic 6
Aplasia of the optic tract OMIM:607932
Fryns Syndrome
Bicornuate uterus, Esophageal atresia, Shawl scrotum, Bifid scrotum, Aganglionic megacolon, Renal... OMIM:229850
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Renal tubular acidosis OMIM:615471
Opitz-Kaveggia Syndrome
Narrow palate, Pyloric stenosis, Anal atresia, Intestinal malrotation, Anteriorly placed anus, Hy... OMIM:305450
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Furrowed tongue, Cleft palate, High, narrow palate, H... ORPHA:464738
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic atrophy, Abnormal repetitive mannerisms, C... ORPHA:468678
Pentalogy Of Cantrell
Cleft palate, Hypospadias, Renal agenesis, Renal dysplasia ORPHA:1335
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, High palate OMIM:609944
3M Syndrome
Hypospadias ORPHA:2616
Lenz-Majewski Hyperostotic Dwarfism
Hypogonadism, External genital hypoplasia, Bifid uvula, Submucous cleft hard palate, Epispadias, ... ORPHA:2658
Cerebrofacioarticular Syndrome
Renal hypoplasia, Anteriorly placed anus, Hypospadias, Anal stenosis ORPHA:314679
Rapp-Hodgkin Syndrome
Velopharyngeal insufficiency, Bifid uvula, Hypoplastic labia majora, Hypospadias, Cleft palate OMIM:129400
Kabuki Syndrome
Precocious puberty, High palate, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Hypoplasi... ORPHA:2322
Ogden Syndrome
Low-set ears, Macrotia, Abnormal head movements ORPHA:276432
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Bifid uvula, Septate vagina, Cleft palate, Bicornuate ut... OMIM:270400
Fraser Syndrome
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid tongue, High palate, E... ORPHA:2052
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Hypospadias, Cryptorchidism OMIM:614052
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Cleft soft palate, Abnormal preputium morphology ORPHA:293725
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Abnormality of the kidney, Polycystic kidney dysplasia, Multiple glomer... ORPHA:1505
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Renal dysplasia, Hypospadias, Horseshoe kidney, Cryptorchidism, Esophagitis, ... ORPHA:96182
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:476126
3Mc Syndrome 2
High palate, Hypospadias, Horseshoe kidney, Cryptorchidism, Cleft palate OMIM:265050
3Q29 Microdeletion Syndrome
Hypospadias, High palate, Horseshoe kidney ORPHA:65286
Peroxisome Biogenesis Disorder 5A (Zellweger)
High palate, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Renal cortical microcysts, Cry... OMIM:614866
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Abnormal repetitive mannerisms ORPHA:2479
Dubowitz Syndrome
Abnormality of female external genitalia, High palate, Malabsorption, Submucous cleft hard palate... ORPHA:235
Baller-Gerold Syndrome
High palate, Abnormality of the kidney, Perineal fistula, Bifid uvula, Anal atresia, Anteriorly p... OMIM:218600
Craniofrontonasal Syndrome
Cleft palate, Hypospadias, Cryptorchidism, Shawl scrotum OMIM:304110
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Renal cyst, Cleft palate, Micropenis ORPHA:1692
Ring Chromosome 13 Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, High palate, Bifid scrotum, Anal atresia, Abnormal... ORPHA:96176
Alg12-Cdg
Intestinal malrotation, Hypospadias, Micropenis, Cryptorchidism ORPHA:79324
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Cryptorchidism, Duodenal atres... ORPHA:464311
Schinzel-Giedion Midface Retraction Syndrome
Bicornuate uterus, Hydroureter, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia,... OMIM:269150
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Cryptorchidi... ORPHA:464306
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Autosomal Dominant Robinow Syndrome
Bifid tongue, Hypoplastic labia minora, Hypoplastic labia majora, Hypoplasia of penis, Epispadias... ORPHA:3107
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Renal dysplasia, Hypospadias, Renal insufficiency, Hyperechogenic kidneys ORPHA:397715
Microphthalmia, Syndromic 3
Esophageal atresia, Hypospadias, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:206900
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Micropenis OMIM:613673
Townes-Brocks Syndrome
Vesicoureteral reflux, Renal insufficiency, Bifid scrotum, Abnormality of the kidney, Rectoperine... ORPHA:857
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Bifid tongue, Renal hypoplasia/aplasia, Agangl... ORPHA:818
Mucopolysaccharidosis Type 2
Hyperactivity, Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Opt... ORPHA:580
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Ureteral obstruction, Glossoptosis, Hydronephrosis ORPHA:90652
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty OMIM:210720
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Primary microcephaly, Secondary microcephaly, Abnormal corpus callosum morphology, Hypoplasia of ... ORPHA:261552
Leopard Syndrome 1
Aplasia of the ovary, Unilateral renal agenesis, Hypoplasia of the ovary, Hypospadias, Cryptorchi... OMIM:151100
Jacobsen Syndrome
Pyloric stenosis, Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism OMIM:147791
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Submucous cleft hard palate, Chordee OMIM:618891
Acrocallosal Syndrome
High palate, Bifid uvula, Anal atresia, Hypospadias, Protruding tongue, Cryptorchidism, Cleft pal... OMIM:200990
X-Linked Intellectual Disability, Snyder Type
High palate, Ectopic kidney, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cr... ORPHA:3063
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Microphallus, Unilateral renal agenesis, Hypospadias... ORPHA:468631
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Bifid scrotum, Renal dy... OMIM:107480
Eec Syndrome
Urethral atresia, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hypospadias, Xerostomia, Cleft... ORPHA:1896
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias ORPHA:73230
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Cleft palate, Hypospadias, Anal atresia, Ectopic anus ORPHA:85199
Osteoglophonic Dysplasia
Hypospadias, High palate, Chordee, Cryptorchidism OMIM:166250
Noonan Syndrome With Multiple Lentigines
Hypospadias, Abnormal localization of kidney, Cryptorchidism ORPHA:500
Craniofacioskeletal Syndrome
Cleft palate, Hypospadias, Hydronephrosis, Cryptorchidism OMIM:300712
Microphthalmia With Linear Skin Defects Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Abnormality of the anus, Abnormal testis... ORPHA:2556
Multiple Pterygium Syndrome, Escobar Variant
High palate, Absence of labia majora, Hypospadias, Cryptorchidism, Cleft palate OMIM:265000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis ORPHA:163979
Dyskeratosis Congenita, X-Linked
Esophageal stricture, Decreased testicular size, Phimosis, Hypospadias, Urethral stenosis, Oral l... OMIM:305000
Lenz-Majewski Hyperostotic Dwarfism
Anteriorly placed anus, Hypospadias, Microglossia, Cryptorchidism, Cleft palate, Chordee OMIM:151050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Esophageal atresia, Bicornuate uterus, Hydroureter, Anal at... OMIM:265380
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:457351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Low-set ears, Protruding ear ORPHA:447997
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal repetitive mannerisms ORPHA:457279
Pearson Syndrome
Anemia, Abnormality of the liver, Macronodular cirrhosis, Reticulocytosis, Pancytopenia, Hepatic ... ORPHA:699
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydronephrosis, Urinary incontinence, Imperforate hymen, High palate, Renal agenesis, Urethral st... OMIM:619522
Dubowitz Syndrome
High palate, Velopharyngeal insufficiency, Submucous cleft hard palate, Hypospadias, Cryptorchidism OMIM:223370
X-Linked Intellectual Disability, Nascimento Type
Vesicoureteral reflux, Hypospadias, Micropenis, Cryptorchidism ORPHA:163956
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Cleft soft palate, Shawl scrotum, Recurrent urinary tract infections, Pylori... ORPHA:268261
Trichohepatoenteric Syndrome 1
Villous atrophy, Bifid uvula, Galactosuria, Hypospadias, Renal cortical microcysts OMIM:222470
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Renal cyst, Anteriorly placed ... ORPHA:495875
Elsahy-Waters Syndrome
High palate, Abnormality of the anus, Bifid scrotum, Bilateral cryptorchidism, Bifid uvula, Anter... OMIM:211380
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Hydroureter, Hypoplasia of penis, Macroglossia, Hyp... ORPHA:373
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Bifid scrotum, Clitoral hypoplasia, Hypospadias, Horseshoe kidney, Cryptorchidism, M... OMIM:609945
Monosomy 9P
Ambiguous genitalia, High palate, Hypospadias, Ureteropelvic junction obstruction, Cryptorchidism... ORPHA:261112
Hajdu-Cheney Syndrome
High palate, Polycystic kidney dysplasia, Intestinal malrotation, Renal cyst, Hypospadias, Crypto... OMIM:102500
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Hypospadias, Methylmalonic aciduria, Abnormal renal collecting syste... ORPHA:17
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Degcags Syndrome
Abnormal renal cortex morphology, Ambiguous genitalia, High palate, Jejunal atresia, Recurrent ur... OMIM:619488
Wiedemann-Steiner Syndrome
Low-set ears, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:319182
Branchioskeletogenital Syndrome
Absent external genitalia, Submucous cleft hard palate, Bifid uvula, Anteriorly placed anus, Peno... ORPHA:1299
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Chordee, Esophageal ulceration OMIM:176690
Hartsfield Syndrome
Cleft palate, Hypospadias, Micropenis, Cryptorchidism OMIM:615465
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Micropenis OMIM:619479
Floating-Harbor Syndrome
Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycyst... ORPHA:2044
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Head-banging, Abnormal repetitive mannerisms, Compulsiv... ORPHA:177907
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Intestinal malrotation, Unil... OMIM:618280
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Schinzel-Giedion Syndrome
Nephroblastoma, High palate, Aganglionic megacolon, Macroglossia, Renal cyst, Anteriorly placed a... ORPHA:798
Mosaic Trisomy 16
Anteriorly placed anus, Hypospadias, Meckel diverticulum, Horseshoe kidney ORPHA:1708
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... OMIM:201750
Floating-Harbor Syndrome
Congenital posterior urethral valve, Epididymal cyst, Celiac disease, Hypospadias, Varicocele, Cr... OMIM:136140
Distal Monosomy 15Q
Multicystic kidney dysplasia, Bifid tongue, Hypospadias, Abnormal localization of kidney, Cryptor... ORPHA:1596
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Bicornuate uterus, Renal hypoplasia... OMIM:219000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Bladder exstrophy, Hypospadias, High palate OMIM:210730
Vater/Vacterl Association
Vesicoureteral reflux, Renal dysplasia, Esophageal atresia, Renal agenesis, Patent urachus, Anal ... OMIM:192350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Abnormal optic disc morphology, Abnormal repetitive mannerisms, Optic nerve hypopla... ORPHA:508498
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Chordee, Cryptorchidism ORPHA:477993
Partial Deletion Of The Short Arm Of Chromosome 7
Cleft palate, Bilateral cryptorchidism, Hypospadias ORPHA:261911
Koolen-De Vries Syndrome Due To A Point Mutation
Vesicoureteral reflux, Renal duplication, Precocious puberty, Recurrent urinary tract infections,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vesicoureteral reflux, Renal duplication, Precocious puberty, Recurrent urinary tract infections,... ORPHA:363958
22Q11.2 Deletion Syndrome
Vesicoureteral reflux, Aganglionic megacolon, Polycystic kidney dysplasia, Anal atresia, Intestin... ORPHA:567
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele, Cryptorchidism, Cleft palate, Small scrotum OMIM:616734
Dyskeratosis Congenita
Abnormal testis morphology, Malabsorption, Esophageal stenosis, Tracheoesophageal fistula, Urethr... ORPHA:1775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Abnormal repetitive mannerisms ORPHA:508533
1P36 Deletion Syndrome
Abnormality of female external genitalia, Abnormality of the anus, Hypogonadism, Abnormality of t... ORPHA:1606
Diets-Jongmans Syndrome
Hypospadias, Duodenal atresia, Cryptorchidism OMIM:618846
Hajdu-Cheney Syndrome
Intestinal malrotation, Cleft palate, Hypospadias, Multiple renal cysts ORPHA:955
Rubinstein-Taybi Syndrome 1
Premature thelarche, High palate, Narrow palate, Shawl scrotum, Bilateral cryptorchidism, Hypospa... OMIM:180849
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Aplasia/Hypoplasia of the vagina, Renal dysplasia, Decre... ORPHA:672
Vici Syndrome
Cleft palate, Penile hypospadias, High palate, Median cleft palate OMIM:242840