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Gene: Ephb2 MGI:99611

Gene Summary

Name:

Eph receptor B2

Synonyms:

Erk, Drt, Prkm5, Cek5, Sek3, Qek5, Hek5, Nuk, Tyro5, eteck

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased exploration in new environment		Ephb2^em1(IMPC)Mbp	HOM		Early adult	1.97×10^-05
small spleen		Ephb2^em1(IMPC)Mbp	HOM		Early adult	0.00

Download data as: TSV XLS

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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 Dorso Ventral

35 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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.

Human diseases associated with Ephb2 (2 diseases)
Human diseases predicted to be associated with Ephb2 (693 diseases)

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	Matching phenotypes	Source
Idiopathic Isolated Micropenis	Ambiguous genitalia, Micropenis, Hypospadias	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
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia	OMIM:301800
15q24 recurrent microdeletion syndrome	Hypospadias	DECIPHER:66
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis	OMIM:264600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou...	ORPHA:753
Spina Bifida-Hypospadias Syndrome	Hypospadias	ORPHA:3176
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Glandular hypospadias	OMIM:176305
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Schizophrenia 15	Hyperactivity	OMIM:613950
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor...	ORPHA:261529
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypospadias	OMIM:179250
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Isolated Epispadias	Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi...	ORPHA:93928
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Hydrocephalus, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni...	ORPHA:456328
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m...	ORPHA:1552
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Renal dysplasia	OMIM:615985
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Radial Aplasia, X-Linked	Penile hypospadias, Anal atresia	OMIM:312190
Lambert Syndrome	Hypospadias	OMIM:245550
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias	ORPHA:1355
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Image Syndrome	Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis	ORPHA:85173
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia	ORPHA:1381
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Abnormal repetitive mannerisms	OMIM:617830
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears	ORPHA:436151
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Congenital Short Bowel Syndrome	Intestinal hypoplasia, Displacement of the urethral meatus, Intestinal malrotation	ORPHA:2301
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	Hypospadias	ORPHA:2261
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum	ORPHA:572013
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Renal cyst, Hypospadias, Cleft palate	OMIM:231060
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Otoonychoperoneal Syndrome	Hypospadias	OMIM:259780
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypospadias	ORPHA:2252
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Cryptorchidism, Esophageal atresia, Ventral shortening of foreskin, Cleft palate, ...	ORPHA:95706
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias	OMIM:618840
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re...	OMIM:609425
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:250994
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri...	OMIM:201810
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Penoscrotal Transposition	Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Nephrolithiasis	ORPHA:1816
Lissencephaly 9 With Complex Brainstem Malformation	Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ...	OMIM:618325
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate	ORPHA:1703
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Phenobarbital Embryopathy	Hypospadias	ORPHA:1919
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment, Aggressive behavior	OMIM:248510
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of...	ORPHA:139466
Chromosome 15Q26-Qter Deletion Syndrome	Cryptorchidism, Micropenis, Hypospadias	OMIM:612626
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa...	OMIM:618718
Lumbar Syndrome	Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ...	ORPHA:83628
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619690
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior	ORPHA:382
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ...	ORPHA:300570
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit...	OMIM:620141
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Hypospadias	OMIM:101805
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormal testis morphology, Hypospadias	ORPHA:1548
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:2508
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2973
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms, Jerky head movements	ORPHA:98807
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Intellectual Disability, Wolff Type	Cryptorchidism, Hypospadias, Abnormal intestine morphology	ORPHA:3080
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
10Q22.3Q23.3 Microduplication Syndrome	Ambiguous genitalia, Hypospadias	ORPHA:276422
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:301830
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Hypospadias	OMIM:618815
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Cleft palate	ORPHA:2013
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Abruzzo-Erickson Syndrome	Hypospadias, Cryptorchidism, Coronal hypospadias, Abnormal localization of kidney, Cleft palate	ORPHA:921
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypospadias, Gastritis, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum	ORPHA:2575
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:1762
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia	OMIM:300624
Trisomy 4P	Cryptorchidism, Hypospadias	ORPHA:1738
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias	OMIM:300934
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Intellectual Developmental Disorder, X-Linked 106	Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:300997
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista...	ORPHA:227
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Hypospadias	OMIM:616910
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Micropenis, Hypospadias, Hypercalciuria	OMIM:614732
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Hypospadias	OMIM:620135
Lambert Syndrome	Hypospadias	ORPHA:1296
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Male hypogonadism, Decreased testicu...	ORPHA:163971
Fg Syndrome 5	Hypospadias	OMIM:300581
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias	OMIM:301045
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi...	OMIM:601346
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Hypospadias	OMIM:618688
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Short Stature-Wormian Bones-Dextrocardia Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hypospadias, High palate, Anal atresia	ORPHA:2863
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Seckel Syndrome 2	Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Attention d...	OMIM:618342
Acrocallosal Syndrome	Cryptorchidism, Hypospadias	ORPHA:36
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms	OMIM:617393
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Intellectual Developmental Disorder, X-Linked 99	Hypospadias, Ectopic kidney	OMIM:300919
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia	OMIM:300558
Cardiocranial Syndrome, Pfeiffer Type	Hypospadias, High, narrow palate, Cryptorchidism, Micropenis, Bifid uvula	ORPHA:2872
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Test...	OMIM:180860
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Laurence-Moon Syndrome	Cryptorchidism, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab...	OMIM:614104
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias	OMIM:618330
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis	ORPHA:171839
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Hypospadias	OMIM:619759
Foxg1 Syndrome	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism	ORPHA:561854
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Cryptorchidism, Macroglossia, Hypogonadism, Micropenis, Decreased testicular size	OMIM:300354
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk...	OMIM:600430
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
3-Methylglutaconic Aciduria, Type V	Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te...	OMIM:610198
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate	ORPHA:66629
Fetal Trimethadione Syndrome	Ambiguous genitalia, High palate, Hypospadias	ORPHA:1913
Teebi Hypertelorism Syndrome 2	Cleft palate, High palate, Hypospadias	OMIM:619736
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Hypospadias	ORPHA:544254
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Tonne-Kalscheuer Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicular size	OMIM:300978
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ...	OMIM:617695
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Methimazole Embryofetopathy	Esophageal atresia, Hypospadias, Tracheoesophageal fistula	ORPHA:1923
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Renpenning Syndrome	Hypospadias, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia	ORPHA:3242
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, High palate, Hypospadias, Shawl scrotum	OMIM:239710
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias	OMIM:618972
Hand-Foot-Genital Syndrome	Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel...	OMIM:140000
Meckel Syndrome, Type 10	Hypospadias, Renal cyst, Cleft palate, Micropenis, Bifid uvula	OMIM:614175
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Microphallus	ORPHA:397590
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis	OMIM:617516
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Abnormal temper tantrums, Skin-p...	ORPHA:163681
Autosomal Dominant Spastic Ataxia Type 1	Jerky head movements, Dysphagia	ORPHA:251282
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl...	ORPHA:2538
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias	OMIM:615761
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micropenis, Varicocele	ORPHA:8
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Female external genitalia in individual...	ORPHA:90791
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si...	OMIM:610644
Diamond-Blackfan Anemia 5	Hypospadias	OMIM:612528
Craniofrontonasal Dysplasia	High palate, Hypospadias, Shawl scrotum	ORPHA:1520
Lamb-Shaffer Syndrome	Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements	ORPHA:71518
Arthrogryposis Multiplex Congenita 6	Hypospadias	OMIM:619334
Christianson Syndrome	Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A...	ORPHA:2438
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hypospadias	OMIM:175700
Triploidy	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglos...	ORPHA:3376
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Labial hypoplas...	OMIM:164745
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe...	ORPHA:3306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Seckel Syndrome 5	Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy	OMIM:613823
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala...	ORPHA:2075
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Hearing impairment, Oral-pharyngeal dysphagia	OMIM:610883
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:619092
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms	ORPHA:280763
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Esophagitis	ORPHA:79350
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, Anteriorly placed an...	ORPHA:2315
Chromosome 16Q22 Deletion Syndrome	Cryptorchidism, High palate, Hypospadias	OMIM:614541
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal	OMIM:611812
Xq28 (MECP2) duplication	Macrotia, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias, Abnormality of the kidney	ORPHA:1194
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias	OMIM:618659
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate	OMIM:606851
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Endometriosis, Unilat...	ORPHA:363444
Buratti-Harel Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala...	OMIM:619314
Acrofrontofacionasal Dysostosis	Bifid scrotum, Cleft palate, High palate, Hypospadias	ORPHA:1784
Juberg-Hayward Syndrome	Anteriorly placed anus, Hypospadias, Horseshoe kidney	ORPHA:2319
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Posteriorly rotated ears, Low-set ears, Compulsive behavio...	OMIM:618027
15Q24 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Microphallus, Anal atresia, Intestinal atresia	ORPHA:94065
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Attention ...	ORPHA:401777
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Hypospadias	OMIM:614613
Ritscher-Schinzel Syndrome 1	Anal atresia, Hypospadias, Hydronephrosis, Cleft palate	OMIM:220210
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, High palate, Hypospadias	ORPHA:98791
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum	ORPHA:2505
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Enuresis, Labial hypoplasia	OMIM:619293
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Compulsive behaviors,...	OMIM:618430
Cri-Du-Chat Syndrome	Hyperactivity, Abnormal pinna morphology, Hearing impairment, Aggressive behavior, Optic atrophy,...	OMIM:123450
Marden-Walker Syndrome	Hypospadias, High, narrow palate, Cryptorchidism, Pyloric stenosis, Renal hypoplasia, Cleft palat...	OMIM:248700
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Bifid uterus, ...	OMIM:258040
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Silver-Russell Syndrome 3	Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias	OMIM:616489
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, High palate, Renal dysplasia, Hypospadias	OMIM:300004
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe	ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Hearing impairment, Bruxism	OMIM:616351
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Schilbach-Rott Syndrome	Submucous cleft hard palate, Hypospadias, Bifid uvula	OMIM:164220
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Hypoplastic female external genitalia	OMIM:177980
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien...	ORPHA:93111
Huntington Disease-Like 1	Restlessness, Jerky head movements, Abnormal head movements	ORPHA:157941
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment	ORPHA:238750
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Hor...	OMIM:619103
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Aggressive behavior, Progressive hearing impairment, Disinhibi...	ORPHA:43
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur...	ORPHA:90793
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias	ORPHA:2115
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms, Low-set ears, Sensorineural hearing impairment	OMIM:617751
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cryptorchidism, Hypospadias	ORPHA:500159
Opitz Gbbb Syndrome	Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Congenital posteri...	OMIM:300000
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Progressive Supranuclear Palsy-Corticobasal Syndrome	Jerky head movements, Dysphagia	ORPHA:240103
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micropenis, Hypospadias, Hydronephrosis, Cleft palate	OMIM:616897
Short Stature-Micrognathia Syndrome	Small scrotum, Cryptorchidism, Cleft palate, High palate, Micropenis, Penoscrotal hypospadias	OMIM:617164
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Cryptorchidism, Hypospadias, Intestinal malrotation	OMIM:618316
3C Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, Cleft palate, Ecto...	ORPHA:7
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ...	OMIM:617053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Cryptorchidism, Megarectum, Vesicoureteral reflux, Mic...	OMIM:301056
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Cryptorchidism, Hypospadias	ORPHA:494344
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Prominent antihelix, Optic atrophy, Abnormal repetitive mannerisms	OMIM:617807
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Cryptorchidism, Hypospadias	ORPHA:435938
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor...	ORPHA:2059
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616975
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias	OMIM:618253
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, High, narrow palate, Cryptorchidism, Pyloric stenosis, Narrow ...	ORPHA:96169
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, High ...	ORPHA:912
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Intestinal polyp, Lactose intolerance, Hypospadias	ORPHA:457485
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Polycystic kid...	OMIM:614091
Kleefstra Syndrome 1	Hypospadias, Protruding tongue, Cryptorchidism, Abnormal renal morphology, Macroglossia, Micropenis	OMIM:610253
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Macrotia, Self-biting, Stereotypical body rocking, B...	OMIM:300912
Distal Deletion 9P	Hypoplastic labia majora, High, narrow palate, Hypospadias, Cleft palate	ORPHA:1642
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal...	ORPHA:813
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias	OMIM:619718
Squalene Synthase Deficiency	Bilateral cryptorchidism, Hypospadias	OMIM:618156
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias	ORPHA:171430
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Abnormality of the ureter, Cleft palate, Abnormal morphology of fema...	ORPHA:2311
3Mc Syndrome 3	Bifid scrotum, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias	OMIM:248340
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Hypospadias	ORPHA:363686
Intellectual Disability-Strabismus Syndrome	Hypospadias, Cryptorchidism, High palate, Micropenis, Medullary nephrocalcinosis	ORPHA:363528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Bilateral cryptorchidism, Micropenis, Hypospadias	OMIM:618336
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Lowry-Maclean Syndrome	Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,...	ORPHA:2409
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidism, Ankyloglossia	OMIM:618874
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias	ORPHA:3224
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Anal stenosis, Hypospadias	OMIM:601499
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure...	ORPHA:3339
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Bilateral cryptorchidism, Chordee, Renal dysplasia	ORPHA:96179
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Hypospadias	OMIM:619272
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Large earlobe, Attention deficit hyperactivity disorder, Dyspha...	OMIM:619312
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Micropenis, Vaginal dryness, Hypospadias, Cleft palate	OMIM:106260
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Cryptorchidism, High palate, Hypospadias	OMIM:300260
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Pyloric stenosis, Renal cy...	ORPHA:261494
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
19P13.12 Microdeletion Syndrome	Precocious puberty, Cryptorchidism, Hypospadias, Cleft palate	ORPHA:254346
Trisomy 13	High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft palate, Multiple renal cyst...	ORPHA:3378
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Pyloric stenosis, Penoscrotal transposition, Anterior...	OMIM:619148
Three M Syndrome 1	Hypospadias, Decreased testicular size	OMIM:273750
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias	ORPHA:217346
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cleft palate, Furrowed tongue, High palate, Hydronephrosis, Clitoral hypertrophy	OMIM:616449
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Cleft palate, Glosso...	OMIM:611209
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Compulsive behaviors, Abnormal r...	OMIM:613174
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Cleft p...	OMIM:257300
Orofaciodigital Syndrome Type 4	Decreased testicular size, Monorchism, Renal agenesis, Renal hypoplasia/aplasia, High, narrow pal...	ORPHA:2753
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Facial diplegia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggres...	OMIM:619121
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia	OMIM:617802
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Micropenis, Perineal hypospadias	ORPHA:3134
Snijders Blok-Campeau Syndrome	Low-set ears, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula	OMIM:619859
Intellectual Developmental Disorder, Autosomal Recessive 65	Cryptorchidism, Hypospadias	OMIM:618109
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Cdags Syndrome	Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Anal atresia	OMIM:603116
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of...	OMIM:309801
Congenital Disorder Of Glycosylation, Type Ig	Cryptorchidism, Micropenis, Small scrotum, Hypospadias	OMIM:607143
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora, High palate, Shawl s...	OMIM:604314
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum	ORPHA:2211
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis	OMIM:600460
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc...	ORPHA:2282
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:10
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Seckel Syndrome 1	Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy	OMIM:210600
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms	OMIM:619435
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Pde4D Haploinsufficiency Syndrome	Cryptorchidism, Hypospadias	ORPHA:439822
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Trisomy 8Q	Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat...	ORPHA:1752
Nizon-Isidor Syndrome	High, narrow palate, Hypospadias	OMIM:618872
Fg Syndrome Type 1	Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s...	ORPHA:93932
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Hypospadias, Cleft palate	ORPHA:436003
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Narrow palate, Anteriorly placed anus, Hypoplastic labia majora, High...	OMIM:123790
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Cryptorchidism, Hypospadias	OMIM:613026
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ...	OMIM:617063
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Attention...	OMIM:619575
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Sensorineur...	OMIM:616364
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:168491
Chromosome 9P Deletion Syndrome	Hypospadias, High, narrow palate, Narrow palate, High palate, Micropenis	OMIM:158170
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, Cryptorchidis...	ORPHA:2166
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa...	ORPHA:2745
Progeria-Short Stature-Pigmented Nevi Syndrome	Micropenis, Hypergonadotropic hypogonadism, Hypospadias, Bifid uvula	ORPHA:2959
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology, Stereoty...	ORPHA:778
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Macroglossia, Aminoaciduria,...	OMIM:214100
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Anal atresia	OMIM:617602
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cryptorchidism, Hypoplastic la...	ORPHA:2554
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Macroglossia, Shawl scrotum, Micr...	OMIM:301040
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric steno...	OMIM:122470
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,...	ORPHA:1358
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed anus, High palate...	OMIM:615546
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Hypospadias, Cleft palate	OMIM:603736
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Low-set ears, Overfriendliness	OMIM:616579
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis	ORPHA:568
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Hypoplasia of penis, 3-Methylglutaconic aciduria, Perineal hypospadias	ORPHA:66634
Chromosome 18Q Deletion Syndrome	Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Bifid uvula	OMIM:601808
20Q13.33 Microdeletion Syndrome	Hypospadias, Decreased scrotal rugation	ORPHA:261311
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper...	OMIM:300352
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Hypospadias	ORPHA:1786
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet...	OMIM:616393
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Acrocardiofacial Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Anal atresia	ORPHA:2008
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona...	OMIM:618820
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Bilateral cryptorchidism, Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:300998
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteriorly placed anus, Cryptorchidism, Hypospadias, Cleft palate	OMIM:217980
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Micropenis, Perineal hypospadias	OMIM:312830
Smith-Magenis Syndrome	Conductive hearing impairment, Self-injurious behavior, Abnormal repetitive mannerisms, Attention...	ORPHA:819
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri...	OMIM:300661
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Cryptorchidism	OMIM:225500
Hatipoglu Immunodeficiency Syndrome	Cryptorchidism, Hypospadias	OMIM:620331
Prostate Cancer/Brain Cancer Susceptibility	Prostate cancer	OMIM:603688
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Hypospadias, Aganglionic megacolon, Intestinal malrotation, ...	OMIM:229850
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad...	ORPHA:95699
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Cleft palate	OMIM:313850
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia, Anteriorly placed anus, High palate, Anal atresia	OMIM:601390
Distal Duplication 5Q	Cryptorchidism, Hypospadias	ORPHA:96097
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Clitoral hypert...	OMIM:613803
Ring Chromosome 12 Syndrome	High, narrow palate, Uterine leiomyoma, Glandular hypospadias, Cryptorchidism	ORPHA:1439
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Cleft palate	OMIM:619184
Takenouchi-Kosaki Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma...	OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H...	ORPHA:464738
3P25.3 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity...	ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Fanconi Anemia	High palate, Abnormality of the uterus, Hypospadias, Aplasia/Hypoplasia of the uvula, Cryptorchid...	ORPHA:84
Microphthalmia, Syndromic 6	Aplasia of the optic tract	OMIM:607932
8P23.1 Microdeletion Syndrome	Cryptorchidism, High palate, Hypospadias	ORPHA:251071
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Hypoplastic labia major...	OMIM:603457
Opitz-Kaveggia Syndrome	Anal stenosis, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Cleft palat...	OMIM:305450
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Sensorineural hearin...	OMIM:619512
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ...	ORPHA:261197
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, High palate, ...	OMIM:620083
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Renal tubular acidosis, Hypospadias	OMIM:615471
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, O...	ORPHA:468678
Cerebrofacioarticular Syndrome	Anteriorly placed anus, Anal stenosis, Hypospadias, Renal hypoplasia	ORPHA:314679
Pentalogy Of Cantrell	Renal agenesis, Hypospadias, Renal dysplasia, Cleft palate	ORPHA:1335
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	High palate, Hypospadias	OMIM:609944
3M Syndrome	Hypospadias	ORPHA:2616
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be...	OMIM:615656
Rapp-Hodgkin Syndrome	Hypospadias, Velopharyngeal insufficiency, Cleft palate, Hypoplastic labia majora, Bifid uvula	OMIM:129400
3Q29 Microdeletion Syndrome	High palate, Hypospadias, Horseshoe kidney	ORPHA:65286
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, High, narrow pal...	ORPHA:2658
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypos...	OMIM:270400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Precocious puberty, High, narrow palate, Cryptorchidism, Horseshoe kidney, Esophagit...	ORPHA:96182
Phelan-Mcdermid Syndrome	Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man...	OMIM:606232
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Hydrocephal...	ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal preputium morphology, Glandular hypospadias, Cleft soft palate	ORPHA:293725
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Multicystic kidney dysplasia, Cry...	ORPHA:2052
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cryptorchidism, Cleft palate, Renal cyst, High palate, Polycystic kidney dysplasia, ...	OMIM:614866
Rett Syndrome, Congenital Variant	Protruding ear, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias	OMIM:614052
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464311
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements	OMIM:245348
3Mc Syndrome 2	Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate	OMIM:265050
Dubowitz Syndrome	Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ...	ORPHA:235
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive mannerisms	ORPHA:496641
Baller-Gerold Syndrome	Abnormality of the kidney, Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal f...	OMIM:218600
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Cleft palate, Micropenis, Penile hypospadias	ORPHA:1692
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Pyloric stenosis, Renal cyst, Micropenis,...	ORPHA:464306
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypospadias, Urogenital sinus anomaly, High palate, Ambiguous genitalia, Abnormal ...	ORPHA:96176
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic...	OMIM:269150
Alg12-Cdg	Cryptorchidism, Micropenis, Hypospadias, Intestinal malrotation	ORPHA:79324
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia	ORPHA:397715
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear	ORPHA:2479
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cry...	ORPHA:3107
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Hyperactivity, Otosclerosis, Impulsivity, Aggressive be...	ORPHA:580
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressive behavior	ORPHA:457279
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias	OMIM:615877
Anemia, Congenital Dyserythropoietic, Type Iv	Micropenis, Hypospadias	OMIM:613673
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:457351
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Esophageal atresia, Micropenis	OMIM:206900
Craniofrontonasal Syndrome	Cryptorchidism, Hypospadias, Cleft palate, Shawl scrotum	OMIM:304110
Huntington Disease-Like 3	Abnormal head movements	ORPHA:157946
Otopalatodigital Syndrome Type 2	Hypospadias, Ureteral obstruction, Cleft palate, Glossoptosis, Hydronephrosis	ORPHA:90652
Brain-Lung-Thyroid Syndrome	Vesicoureteral reflux, Hypospadias, Megacystis	ORPHA:209905
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni...	ORPHA:818
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Hypospadias, Chordee	OMIM:618891
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney...	ORPHA:857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal...	ORPHA:261552
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal collecting s...	ORPHA:468631
Ogden Syndrome	Abnormal head movements, Macrotia, Low-set ears	ORPHA:276432
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias	ORPHA:73230
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Hypospadias	OMIM:210720
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Ectopic anus, Hypospadias, Cleft palate	ORPHA:85199
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias	OMIM:620306
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Hypoplasia of the ovary, Ap...	OMIM:151100
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia	OMIM:147791
Van Esch-O'Driscoll Syndrome	Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Spina bifida occ...	OMIM:301030
Acrocallosal Syndrome	Hypospadias, Protruding tongue, Cryptorchidism, Cleft palate, High palate, Rectovaginal fistula, ...	OMIM:200990
Den Hoed-De Boer-Voisin Syndrome	Posteriorly rotated ears, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical han...	OMIM:619229
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Multicystic kidney dysplasia, R...	OMIM:107480
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral...	ORPHA:1896
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig...	ORPHA:3063
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate	OMIM:265000
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Hypospadias, Abnormal localization of kidney	ORPHA:500
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal rectum m...	ORPHA:2556
Craniofacioskeletal Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate	OMIM:300712
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypospadias, Galactosuria, Renal cortical microcysts, Bifid uvula	OMIM:222470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis	ORPHA:163979
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Chordee, Microglossia	OMIM:151050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Premature thelarche, Unilater...	ORPHA:268261
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma...	OMIM:615485
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel...	OMIM:265380
X-Linked Intellectual Disability, Nascimento Type	Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias	ORPHA:163956
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Abnormal...	ORPHA:17
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:223370
Elsahy-Waters Syndrome	Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High...	OMIM:211380
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter...	ORPHA:495875
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,...	OMIM:305000
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, High palate, M...	OMIM:609945
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage...	OMIM:192350
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ...	OMIM:619522
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Micropenis, Hypospadias	OMIM:619479
Monosomy 9P	Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureteropelvic juncti...	ORPHA:261112
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney...	OMIM:618280
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d...	OMIM:102500
Branchioskeletogenital Syndrome	Ureteral stenosis, Unilateral cleft palate, Absent external genitalia, Submucous cleft hard palat...	ORPHA:1299
Progeroid Short Stature With Pigmented Nevi	Esophageal ulceration, Chordee, Hypospadias	OMIM:176690
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Head titubation, Repetitiv...	OMIM:619475
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Jejunal atresia, Bilateral renal dysplasia, Prot...	OMIM:619488
Mosaic Trisomy 16	Anteriorly placed anus, Meckel diverticulum, Hypospadias, Horseshoe kidney	ORPHA:1708
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal...	OMIM:219000
Pitt-Hopkins Syndrome	Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms	OMIM:610954
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Cleft palate, Abnormal localization of...	ORPHA:1596
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th...	ORPHA:2044
Hartsfield Syndrome	Cryptorchidism, Micropenis, Hypospadias, Cleft palate	OMIM:615465
Schinzel-Giedion Syndrome	Streak ovary, Aganglionic megacolon, Hypospadias, Nephroblastoma, Abnormality of the ureter, Neph...	ORPHA:798
Osteoglophonic Dysplasia	Cryptorchidism, Chordee, High palate, Hypospadias	OMIM:166250
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Floating-Harbor Syndrome	Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephro...	OMIM:136140
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney	ORPHA:508498
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Bladder exstrophy, High palate, Hypospadias	OMIM:210730
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Precocious puberty, Cryptor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Precocious puberty, Cryptor...	ORPHA:363958
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Chordee, Hypospadias	ORPHA:477993
22Q11.2 Deletion Syndrome	Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Renal hypoplasia, Cle...	ORPHA:567
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele	OMIM:616734
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Cryptorchidism, Re...	ORPHA:1606
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Urethral stenosis, Tracheoesophageal fistula, Oral leukoplaki...	ORPHA:1775
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear...	OMIM:615873
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria	OMIM:252010
Histidinemia	Hyperactivity	ORPHA:2157
Hajdu-Cheney Syndrome	Multiple renal cysts, Hypospadias, Intestinal malrotation, Cleft palate	ORPHA:955
Diets-Jongmans Syndrome	Cryptorchidism, Hypospadias, Duodenal atresia	OMIM:618846
Pallister-Hall Syndrome	Decreased testicular size, Renal dysplasia, Small scrotum, Hypospadias, Unilateral renal agenesis...	ORPHA:672
Renpenning Syndrome 1	Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, High palate, Decreased testicular size, An...	OMIM:309500
Rubinstein-Taybi Syndrome 1	Hypospadias, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Cryptorchidism, ...	OMIM:180849
Vici Syndrome	Penile hypospadias, High palate, Median cleft palate, Cleft palate	OMIM:242840
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Cryptorchidism, Fet...	OMIM:619841
Poland Syndrome	Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl...	ORPHA:2911
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Horseshoe kidney, Macroglossia, Glossoptosis, High palate, Vesicoureteral reflux	ORPHA:444077
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Cryptorchidism,...	OMIM:135900
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cryptorchidism, Micropenis, High palate, Hypospadias	OMIM:309590
Coffin-Siris Syndrome	Cryptorchidism, Hypospadias, Horseshoe kidney	ORPHA:1465
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Cryptorchidism, Cleft palate, Abnormality of the urinary ...	ORPHA:280
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms, Hypereosinophilia	ORPHA:508533
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins...	ORPHA:199
Ring Chromosome 7 Syndrome	Hypospadias, Cleft palate, Hydrocele testis, Hypogonadism, Median cleft palate, Bifid uvula	ORPHA:1449
6Q Terminal Deletion Syndrome	High, narrow palate, Hypospadias, Phimosis	ORPHA:75857
Campomelic Dysplasia	Hypospadias, Submucous cleft hard palate, Cleft palate, Sex reversal, High palate, Hydronephrosis	OMIM:114290
Yunis-Varon Syndrome	Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renovascular hypertension, Hy...	ORPHA:3472
Diamond-Blackfan Anemia	Renal agenesis, Cleft soft palate, Hypospadias, Horseshoe kidney, High palate, Adenocarcinoma of ...	ORPHA:124
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hi...	OMIM:309580
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,...	OMIM:620330
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Kinsship Syndrome	Abnormal repetitive mannerisms, Low-set ears, Bruxism	OMIM:619297
Hunter-Macdonald Syndrome	Hypospadias	OMIM:611962
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Cryptorchidism, Nephroli...	ORPHA:353281
Peters Plus Syndrome	Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypopl...	ORPHA:709
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypospadias, Anal atresia	OMIM:180500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Agitation, Abnormal autonomic n...	ORPHA:217253
Coffin-Siris Syndrome 12	Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p...	OMIM:619325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne...	ORPHA:353277
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Noonan Syndrome 1	Hypospadias, High, narrow palate, Cryptorchidism, Cleft palate, High palate, Hypogonadism	OMIM:163950
Hypotonia, Ataxia, And Delayed Development Syndrome	Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe, Abnormal repe...	OMIM:617330
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, Dysphagia	OMIM:619777
Orofaciodigital Syndrome Xiv	Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio...	OMIM:615948
Tibial Hemimelia	Ambiguous genitalia, Cryptorchidism, Hypospadias, Cleft palate	ORPHA:93322
Kbg Syndrome	Epispadias, Cryptorchidism	OMIM:148050
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasi...	OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft pala...	OMIM:312870
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Cleft palate, Abnormal vagina morphology, Hydronephrosis	OMIM:236680
Witteveen-Kolk Syndrome	Hypospadias, Unilateral cryptorchidism, Phimosis, High, narrow palate, Male urethral meatus steno...	OMIM:613406
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Cryptorchidism, Hypospadias, Decreased testicular size	ORPHA:459070
Arboleda-Tham Syndrome	Posteriorly rotated ears, Anteverted ears, Prominent antitragus, Optic atrophy, Prominent antihel...	OMIM:616268
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Septate vagina, ...	ORPHA:261537
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Submucous cleft hard pa...	OMIM:607872
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Attentio...	OMIM:614756
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Overfolded helix, Abnormal repetitive mannerisms, Semilobar holoprosenc...	OMIM:301044
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr...	ORPHA:2152
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Renal hypoplasia, Cl...	OMIM:261540
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Microphthalmia, Syndromic 2	Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Bifid uvula	OMIM:300166
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Aminoacidur...	OMIM:619991
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, W...	ORPHA:3455
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Jerky head movements, Low-set ears, Hearing impairment	ORPHA:369837
Johanson-Blizzard Syndrome	Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Urethrovaginal fistula, M...	OMIM:243800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Abnor...	ORPHA:513456
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Aganglionic megacolon, Abnormality of the kidney, Cryptorchidism, Pyl...	OMIM:235730
Restrictive Dermopathy	Ureteral duplication, Submucous cleft hard palate, Hypospadias, Microcolon	ORPHA:1662
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Long penis, Hypospadias	OMIM:264090
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, Abnormality of the...	ORPHA:821
Restrictive Dermopathy 1	Ureteral duplication, Submucous cleft hard palate, Hypospadias	OMIM:275210
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, Compulsive behaviors,...	ORPHA:534
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Cleft palat...	ORPHA:434179
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Horseshoe kidney, B...	OMIM:268300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena...	OMIM:308205
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Anteriorly placed anus, Ketonuria, Hypospadias	OMIM:220111
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Self-injurious behavior, Abnorma...	ORPHA:649
Alzahrani-Kuwahara Syndrome	Hypospadias	OMIM:619268
Ogden Syndrome	Protruding ear, Low-set ears, Dysphagia, Macrotia, Abnormal repetitive mannerisms	OMIM:300855
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Cleft palate...	OMIM:113620
Sponastrime Dysplasia	Precocious puberty, Hypospadias	ORPHA:93357
Otopalatodigital Syndrome, Type Ii	Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate	OMIM:304120
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal...	OMIM:612474
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, High, narrow palate, R...	OMIM:309800
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Renovascular hypertension, Bladder d...	ORPHA:286
Pallister-Killian Syndrome	Renal dysplasia, Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidis...	OMIM:601803
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced...	OMIM:259050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms	OMIM:616682
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Yunis-Varon Syndrome	Hypospadias, Pyloric stenosis, Cryptorchidism, High palate, Micropenis	OMIM:216340
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Renal agenesis, Coronal hypospadias, Xerostomia, Nephrosclerosis, Aplasi...	OMIM:149730
Bleeding Disorder, Platelet-Type, 22		OMIM:618462

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ephb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ephb2.

No publications found that use IMPC mice or data for Ephb2.

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MGI Allele	Allele Type	Produced
Ephb2^{tm232764(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ephb2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ephb2 MGI:99611

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Ephb2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data