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Gene: Ephb2 MGI:99611

Gene Summary

Name:

Eph receptor B2

Synonyms:

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

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	8.32×10^-06
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 (696 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		Gastrointestinal hemorrhage	OMIM:618462

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

Disease	Matching phenotypes	Source
Hypospadias 1, X-Linked	Perineal hypospadias	OMIM:300633
Hypospadias 2, X-Linked	Penoscrotal hypospadias	OMIM:300758
Hypospadias 3, Autosomal	Hypospadias	OMIM:146450
Idiopathic Isolated Micropenis	Micropenis	ORPHA:95707
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni...	OMIM:615542
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Anus, Imperforate	Ectopic anus, Anal atresia, Hypospadias	OMIM:301800
15q24 recurrent microdeletion syndrome	Hypospadias	DECIPHER:66
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias	OMIM:264600
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro...	ORPHA:753
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Spina Bifida-Hypospadias Syndrome	Hypospadias	ORPHA:3176
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Glandular hypospadias	OMIM:176305
N Syndrome	Hypospadias, Cryptorchidism	ORPHA:2608
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ring Chromosome Y Syndrome	Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater...	ORPHA:261529
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus	OMIM:618709
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypospadias	OMIM:179250
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b...	ORPHA:100973
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Isolated Epispadias	Vesicoureteral reflux, Anteriorly displaced urethral meatus, Bifid clitoris, Urinary incontinence...	ORPHA:93928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Aggressive behavior, Hydrocephalus, Hyperactivity, Motor stereotypy	OMIM:619470
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition	OMIM:612069
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias...	ORPHA:456328
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ...	OMIM:250790
46,Xy Sex Reversal 6	Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys...	OMIM:613762
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Agitation	OMIM:617171
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608636
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Currarino Syndrome	Bifid scrotum, Vesicoureteral reflux, Abnormal intestine morphology, Male pseudohermaphroditism, ...	ORPHA:1552
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy	OMIM:617270
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici...	OMIM:194072
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Renal dysplasia	OMIM:615985
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Duplication Of Urethra	Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco...	ORPHA:237
Radial Aplasia, X-Linked	Anal atresia, Penile hypospadias	OMIM:312190
Lambert Syndrome	Hypospadias	OMIM:245550
N Syndrome	Hypospadias, Cryptorchidism	OMIM:310465
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Anal atresia, Hypospadias, Cryptorchidism	ORPHA:1381
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias	ORPHA:1355
Image Syndrome	Hypogonadism, Hydronephrosis, Hypospadias, Cryptorchidism	ORPHA:85173
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	Hypospadias	ORPHA:2261
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Motor stereotypy	OMIM:617830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Hyperactivity	ORPHA:436151
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph...	OMIM:312300
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Congenital Short Bowel Syndrome	Intestinal malrotation, Intestinal hypoplasia, Displacement of the urethral meatus	ORPHA:2301
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit...	OMIM:613670
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Pachygyria, Thin corpus callosum, Abnormality of the anterior commissure	ORPHA:572013
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Gonadal dysgenesis, male, Cleft palate	OMIM:231060
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Non-Syndromic Posterior Hypospadias	Urethral diverticulum, Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Esopha...	ORPHA:95706
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Otoonychoperoneal Syndrome	Hypospadias	OMIM:259780
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypospadias	ORPHA:2252
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:250994
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac...	OMIM:609425
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Male pseudohermaphroditism, Ambiguou...	OMIM:201810
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen...	OMIM:300219
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Motor stereotypy, Dysphagia	OMIM:617862
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Hyperactivity, Macrotia	OMIM:300928
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior	OMIM:619150
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Mosaic Trisomy 14	Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate	ORPHA:1703
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Nephrolithiasis	ORPHA:1816
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
N-Acetylaspartate Deficiency	Motor stereotypy, Self-mutilation	OMIM:614063
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis...	OMIM:618325
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia	OMIM:615541
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Phenobarbital Embryopathy	Hypospadias	ORPHA:1919
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Bardet-Biedl Syndrome 6	Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias	OMIM:605231
Chromosome 15Q26-Qter Deletion Syndrome	Micropenis, Hypospadias, Cryptorchidism	OMIM:612626
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,...	ORPHA:139466
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas...	ORPHA:83628
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Abnormal testis morphology	ORPHA:1548
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy	OMIM:617820
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal burst...	OMIM:618718
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Motor stereotypy	OMIM:619690
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Abnormal head movements, Hyperactivity	ORPHA:382
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Polymicrogyria, Type II lissencephaly, Small basal ganglia, Abnormal basal ganglia morphology, Ag...	ORPHA:300570
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ...	OMIM:620141
Intellectual Disability, Wolff Type	Abnormal intestine morphology, Hypospadias, Cryptorchidism	ORPHA:3080
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:2508
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Fe...	ORPHA:2973
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bifid clitoris,...	OMIM:600057
Primary Dystonia, Dyt13 Type	Motor stereotypy, Jerky head movements	ORPHA:98807
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Micropenis, Hypospadias, Cryptorchidism	OMIM:618815
10Q22.3Q23.3 Microduplication Syndrome	Ambiguous genitalia, Hypospadias	ORPHA:276422
Spinal Muscular Atrophy, X-Linked 2	Micropenis, Hypospadias, Cryptorchidism	OMIM:301830
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Abruzzo-Erickson Syndrome	Cryptorchidism, Coronal hypospadias, Abnormal localization of kidney, Hypospadias, Cleft palate	ORPHA:921
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Cleft palate	ORPHA:2013
Proximal Xq28 Duplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:1762
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ...	ORPHA:275864
Bladder Exstrophy	Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Vesicouret...	ORPHA:93930
Trisomy 4P	Hypospadias, Cryptorchidism	ORPHA:1738
Fragile X Syndrome	Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia	OMIM:300624
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Glandular hypospadias, Gastritis, Shawl scrotum, Nephrotic syndrome, Hypospadias	ORPHA:2575
Glycine Encephalopathy 1	Aggressive behavior, Restlessness, Hyperactivity, Impulsivity	OMIM:605899
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Intellectual Developmental Disorder, X-Linked 106	Decreased testicular size, Hypospadias, Cryptorchidism	OMIM:300997
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy	OMIM:600795
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias	OMIM:300934
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cryptorchidism	OMIM:620135
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Micropenis, Hypercalciuria, Hypospadias, Cryptorchidism	OMIM:614732
Diphallia	Penoscrotal transposition, Bladder exstrophy, Duplicated colon, Bifid scrotum, Horseshoe kidney, ...	ORPHA:227
X-Linked Intellectual Disability, Cilliers Type	Male hypogonadism, Decreased testicular size, Cryptorchidism, Hypospadias, Hypergonadotropic hypo...	ORPHA:163971
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, High palate, Anal atresia	ORPHA:2863
Lambert Syndrome	Hypospadias	ORPHA:1296
Fg Syndrome 5	Hypospadias	OMIM:300581
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism	OMIM:616910
Congenital Disorder Of Glycosylation, Type Iir	Hypospadias	OMIM:301045
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618906
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Hypospadias	OMIM:618688
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp...	OMIM:601346
Acrocallosal Syndrome	Hypospadias, Cryptorchidism	ORPHA:36
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti...	ORPHA:352490
Silver-Russell Syndrome 1	Abnormality of the ureter, Nephroblastoma, Testicular seminoma, Urethral valve, Hypospadias, Cong...	OMIM:180860
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M...	OMIM:620292
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att...	OMIM:618342
Intellectual Developmental Disorder, X-Linked 99	Hypospadias, Ectopic kidney	OMIM:300919
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity	OMIM:301029
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Cryptorchidism, Micropenis, Hypospadias	ORPHA:2872
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy	OMIM:617393
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing	OMIM:618917
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias	OMIM:201910
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus	ORPHA:2377
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Intellectual Developmental Disorder, Autosomal Recessive 38	Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation	OMIM:615516
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Intellectual Developmental Disorder, Autosomal Dominant 7	Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Thickened helices, Motor ster...	OMIM:614104
Intellectual Developmental Disorder, X-Linked 30	Macrotia, Aggressive behavior, Hyperactivity, Hydrocephalus, Restlessness, Agitation	OMIM:300558
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist...	OMIM:617466
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia	OMIM:620502
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias	OMIM:618330
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Renal agenesis, Cryptorchidism, Micropenis, Hypospadias	ORPHA:171839
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Decreased testicular size, Cryptorchidism, 3-Methylglutaconic aciduria...	OMIM:610198
Baker-Gordon Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Decreased testicular size, Cryptorchidism, Micropenis, Macroglossia, Hypospadias	OMIM:300354
Foxg1 Syndrome	Bruxism, Paroxysmal bursts of laughter, Motor stereotypy, Stereotypical hand wringing	ORPHA:561854
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Hypospadias	OMIM:619759
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Head-banging, Hearing impairment, Abnormal middle ear morphol...	OMIM:182290
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Micropenis, Hypospadias	OMIM:300978
Lopes-Maciel-Rodan Syndrome	Motor stereotypy, Bruxism, Dysphagia, Agitation	OMIM:617435
Fetal Trimethadione Syndrome	High palate, Ambiguous genitalia, Hypospadias	ORPHA:1913
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias	OMIM:618972
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Hypospadias	ORPHA:544254
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Optic atrophy, Aggressive behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Seckel Syndrome 2	Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing impairment, Skin-pick...	OMIM:600430
Acrofacial Dysostosis, Catania Type	Hypospadias, Cryptorchidism, Cleft palate	OMIM:101805
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Bifid scrotum, Hypospadias, Cleft palate	ORPHA:66629
Teebi Hypertelorism Syndrome 2	High palate, Hypospadias, Cleft palate	OMIM:619736
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy, M...	OMIM:617695
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal...	ORPHA:887
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Hypospadias, Cryptorchidism, Pyloric stenosis	OMIM:218350
Autosomal Dominant Spastic Ataxia Type 1	Dysphagia, Jerky head movements	ORPHA:251282
Silver-Russell Syndrome Due To A Point Mutation	Microphallus, Bifid scrotum, Abnormal scrotum morphology, Cryptorchidism, Hypospadias, Cleft palate	ORPHA:397590
Renpenning Syndrome	High, narrow palate, Decreased testicular size, Anal atresia, Hypospadias, Cleft palate	ORPHA:3242
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Stankiewicz-Isidor Syndrome	Cryptorchidism, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias	OMIM:617516
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst...	OMIM:140000
Intellectual Developmental Disorder, X-Linked 107	Prominent crus of helix, Abnormality of superior crus of antihelix, Attention deficit hyperactivi...	OMIM:301013
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, High palate, Hypospadias, Shawl scrotum	OMIM:239710
Methimazole Embryofetopathy	Hypospadias, Tracheoesophageal fistula, Esophageal atresia	ORPHA:1923
Meckel Syndrome, Type 10	Bifid uvula, Renal cyst, Micropenis, Hypospadias, Cleft palate	OMIM:614175
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias	ORPHA:8
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter	ORPHA:228402
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab...	ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul...	OMIM:618825
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Horseshoe kid...	ORPHA:2538
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni...	ORPHA:90791
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias	OMIM:615761
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Self-mutilation, Stereotypical hand wringing, Skin-picking, Aggressive ...	ORPHA:163681
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di...	OMIM:617808
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia	OMIM:618504
Craniofrontonasal Dysplasia	High palate, Hypospadias, Shawl scrotum	ORPHA:1520
Diamond-Blackfan Anemia 5	Hypospadias	OMIM:612528
Intellectual Developmental Disorder, Autosomal Dominant 45	Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:617600
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Motor stereotypy, Hyperactivity	ORPHA:530983
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements	ORPHA:71518
Arthrogryposis Multiplex Congenita 6	Hypospadias	OMIM:619334
Hand-Foot-Genital Syndrome	Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Vesico...	ORPHA:2438
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Christianson Syndrome	Inappropriate laughter, Motor stereotypy, Dysphagia, Macrotia	ORPHA:85278
5Q14.3 Microdeletion Syndrome	Motor stereotypy, Optic nerve hypoplasia	ORPHA:228384
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Cleft palate, Labial hypoplasia, Micropenis, Hypospadias, Clito...	OMIM:164745
Cree Impaired Intellectual Development Syndrome	Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum	OMIM:606851
Triploidy	Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Macroglossia, Hypoplasia of penis, H...	ORPHA:3376
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo...	ORPHA:2473
Seckel Syndrome 5	Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:613823
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias	ORPHA:77298
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal...	ORPHA:2075
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy	ORPHA:3306
Chromosome 16Q22 Deletion Syndrome	High palate, Hypospadias, Cryptorchidism	OMIM:614541
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Esophagitis, Hypospadias	ORPHA:79350
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Renal atrophy, Vesicoureteral reflux, Hypospadias, Cryptorchidism	OMIM:618659
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia	ORPHA:391307
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Abnormality of the kidney	ORPHA:1194
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul...	OMIM:618027
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Overfolded helix, Motor stereotypy, Large fleshy ears	OMIM:619092
Potocki-Lupski Syndrome	Motor stereotypy, Hearing impairment, Oral-pharyngeal dysphagia, Hyperactivity	OMIM:610883
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin...	ORPHA:449291
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Xq28 (MECP2) duplication	Motor stereotypy, Dysphagia, Macrotia	DECIPHER:45
Severe Intellectual Disability And Progressive Spastic Paraplegia	Motor stereotypy	ORPHA:280763
Greig Cephalopolysyndactyly Syndrome	Anal atresia, Hypospadias, Cryptorchidism	OMIM:175700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Cryptorchidism	OMIM:614613
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ovotestis, Hypospadias, Cleft palate, Sex reversal	OMIM:611812
Buratti-Harel Syndrome	Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High pala...	OMIM:619314
Dentici-Novelli Neurodevelopmental Syndrome	Motor stereotypy, Hearing impairment, Macrotia	OMIM:619877
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Acrofrontofacionasal Dysostosis	Bifid scrotum, High palate, Hypospadias, Cleft palate	ORPHA:1784
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors...	ORPHA:363444
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Hypospadias, Cleft palate	ORPHA:2505
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	High palate, Hypospadias, Cryptorchidism	ORPHA:98791
15Q24 Microdeletion Syndrome	Microphallus, Cryptorchidism, Intestinal atresia, Anal atresia, Hypospadias	ORPHA:94065
Juberg-Hayward Syndrome	Horseshoe kidney, Hypospadias, Anteriorly placed anus	ORPHA:2319
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Anteriorly placed anus, Abnormality of the female genitalia, Hydronep...	ORPHA:2315
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadias	OMIM:616489
Alazami Syndrome	Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere...	ORPHA:319671
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Anal atresia, Hypospadias, Cleft palate	OMIM:220210
Cri-Du-Chat Syndrome	Low-set ears, Optic atrophy, Hearing impairment, Oppositional defiant disorder, Overfriendliness,...	OMIM:123450
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	High palate, Hypospadias, Cryptorchidism, Renal dysplasia	OMIM:300004
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypospadias, Recurrent urinary tract infections, Cryptorchidism, Labial hypoplasia, Enuresis	OMIM:619293
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Duplicated colon, Anteriorly placed an...	OMIM:258040
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:610042
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Compulsive behaviors,...	OMIM:618430
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Cryptorchidism, Micropenis, High palate, Hypospadias, Clef...	OMIM:248700
Galloway-Mowat Syndrome 6	Paroxysmal bursts of laughter, Motor stereotypy	OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Motor stereotypy	OMIM:613443
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elevated urine 3-methyladipic acid...	OMIM:618156
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity...	OMIM:619580
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Motor stereotypy, Prominent ear helix	ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster...	OMIM:617751
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620242
Schilbach-Rott Syndrome	Bifid uvula, Hypospadias, Submucous cleft hard palate	OMIM:164220
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Hearing impairment	OMIM:616351
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Cryptorchidism	ORPHA:500159
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Pyelonep...	OMIM:301111
Harrod Syndrome	High palate, Hypospadias, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:2115
Hermansky-Pudlak Syndrome 6	Recurrent urinary tract infections, Perineal fistula, Endometriosis, Neurogenic bladder, Urinary ...	OMIM:614075
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplastic female external genitalia, Hypospadias	OMIM:177980
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenesis, Horseshoe...	ORPHA:93111
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,...	ORPHA:90793
Huntington Disease-Like 1	Restlessness, Abnormal head movements, Jerky head movements	ORPHA:157941
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Subm...	OMIM:619103
Opitz Gbbb Syndrome	Congenital posterior urethral valve, Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism...	OMIM:300000
4Q21 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment	ORPHA:238750
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Hype...	OMIM:617053
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Hypospadias, Cryptorchidism	OMIM:618316
Developmental And Epileptic Encephalopathy 6B	Motor stereotypy	OMIM:619317
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micropenis, Hydronephrosis, Hypospadias, Cleft palate	OMIM:616897
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ...	ORPHA:322
X-Linked Adrenoleukodystrophy	Progressive hearing impairment, Disinhibition, Aggressive behavior, Attention deficit hyperactivi...	ORPHA:43
Short Stature-Micrognathia Syndrome	Small scrotum, Cryptorchidism, Penoscrotal hypospadias, Micropenis, High palate, Cleft palate	OMIM:617164
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Cryptorchidism	ORPHA:435938
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Duplicated collecting system, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, ...	OMIM:301056
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Jerky head movements	ORPHA:240103
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy	OMIM:619725
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Hypospadias, Cryptorchidism	ORPHA:494344
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
3C Syndrome	High, narrow palate, Intestinal malrotation, Hydronephrosis, Ectopic anus, Anal atresia, Hypospad...	ORPHA:7
22Q11.2 Duplication Syndrome	Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul...	ORPHA:1727
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact...	OMIM:300986
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Fryns Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Vesicoureteral reflux, Cryptorchidism, Hydr...	ORPHA:2059
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment...	OMIM:617796
Hijazi-Reis Syndrome	Motor stereotypy	OMIM:301094
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias	OMIM:618253
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Motor stereotypy, Prominent antihelix	OMIM:617807
Koolen-De Vries Syndrome	High, narrow palate, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hydronephrosis, Ur...	ORPHA:96169
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Bruxism, Motor stereotypy, Macrotia	OMIM:618004
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Self-mutilation, Motor stereotypy, Macrotia	ORPHA:457240
Silver-Russell Syndrome	Precocious puberty, Abnormal male external genitalia morphology, Abnormality of the urinary syste...	ORPHA:813
Juvenile Neuronal Ceroid Lipofuscinosis	Motor stereotypy, Optic disc pallor, Dysphagia	ORPHA:79264
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum	OMIM:616975
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism	OMIM:619718
Distal Deletion 9P	High, narrow palate, Hypoplastic labia majora, Hypospadias, Cleft palate	ORPHA:1642
Kleefstra Syndrome 1	Protruding tongue, Cryptorchidism, Abnormal renal morphology, Micropenis, Macroglossia, Hypospadias	OMIM:610253
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Short uvula, Renal cyst, High palate, Polycystic kidney dysplasia,...	OMIM:614091
Autosomal Recessive Spondylocostal Dysostosis	Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Hypo...	ORPHA:2311
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Cryptorchidism	OMIM:601499
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Micropenis, Hypospadias, Bilateral cryptorchidism	OMIM:618336
Intellectual Developmental Disorder, X-Linked 98	Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin...	OMIM:300912
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Renal insufficiency, Chordee, Hypospadias, Renal dysplasia	ORPHA:96179
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Hypospadias	ORPHA:363686
Severe Congenital Nemaline Myopathy	Micropenis, Hypospadias	ORPHA:171430
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Jerky head movements	ORPHA:64280
Intellectual Disability-Strabismus Syndrome	Medullary nephrocalcinosis, Cryptorchidism, Micropenis, High palate, Hypospadias	ORPHA:363528
3Mc Syndrome 3	Bifid scrotum, Horseshoe kidney, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Cleft palate	OMIM:248340
Lowry-Maclean Syndrome	High, narrow palate, Bilateral cryptorchidism, Midgut malrotation, Hypospadias, Cleft palate, Pyl...	ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia...	OMIM:617061
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Renal agenesis, Decreased testicular size, Perineal fistula, Su...	ORPHA:2753
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Bilateral cleft palate, Macroorchidism, High palate, Hypospadias	OMIM:618874
Zellweger Syndrome	Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, High palate, ...	ORPHA:912
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Cryptorchidism	OMIM:618109
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias	ORPHA:3224
Kleefstra Syndrome	Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Micropeni...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	High palate, Hypospadias, Cryptorchidism	OMIM:300260
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Intestinal polyp, Hypospadias, Cryptorchidism	ORPHA:457485
19P13.12 Microdeletion Syndrome	Precocious puberty, Hypospadias, Cryptorchidism, Cleft palate	ORPHA:254346
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig...	ORPHA:90796
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Aganglionic megacolon, Abnormality of the b...	ORPHA:3339
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Hypospadias	OMIM:619272
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Houge-Janssens Syndrome 3	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Cryptorchidism, Hydronephrosis, High palate, Glossoptosis, Hypospadias, Clef...	OMIM:611209
Snijders Blok-Campeau Syndrome	Low-set ears, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618205
Radio-Tartaglia Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Aggressive behavi...	OMIM:619312
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Facial diplegia	OMIM:619121
Trisomy 13	High, narrow palate, Abnormal morphology of female internal genitalia, Abnormality of the ureter,...	ORPHA:3378
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Ambiguou...	OMIM:257300
Three M Syndrome 1	Decreased testicular size, Hypospadias	OMIM:273750
Myhre Syndrome	Abnormal penis morphology, Precocious puberty, Bifid uvula, Hypogonadism, External genital hypopl...	ORPHA:2588
19Q13.11 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Bifid scrotum	ORPHA:217346
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Anal atresia, H...	OMIM:619148
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Scarf Syndrome	Micropenis, Perineal hypospadias, Cryptorchidism, Bifid scrotum	ORPHA:3134
48,Xxyy Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Chronic otitis media	ORPHA:10
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Coronal hypospadias	OMIM:619859
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Furrowed tongue, Hydronephrosis, High palate, Hypospadias, Cleft palate	OMIM:616449
Chromosome 5P13 Duplication Syndrome	Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster...	OMIM:613174
Congenital Disorder Of Glycosylation, Type Ig	Micropenis, Small scrotum, Hypospadias, Cryptorchidism	OMIM:607143
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Motor stereotypy, Bilateral conductive hearing impairment, Dysphagia	OMIM:617802
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:168558
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias	ORPHA:2211
Cdags Syndrome	Rectourethral fistula, Anal atresia, Rectovaginal fistula, Hypospadias, Cleft palate	OMIM:603116
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl...	ORPHA:2282
Transketolase Deficiency	Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive...	ORPHA:488618
Developmental And Epileptic Encephalopathy 66	Motor stereotypy	OMIM:618067
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ...	OMIM:309801
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Narrow palate, Glandular hypospadias, Hypoplastic labia majora, Shawl scrotum, High palate, Hypos...	OMIM:604314
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cryptorchidism, Shawl scrotum, Micropenis, Hypospadias, Cleft palate	OMIM:600460
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:289548
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Endocrine-Cerebroosteodysplasia	Small scrotum, Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Ambiguo...	OMIM:612651
Marden-Walker Syndrome	Abnormal penis morphology, Bifid uvula, Multicystic kidney dysplasia, Abnormality of the urinary ...	ORPHA:2461
Trisomy 20P	Abnormal localization of kidney, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Ectop...	ORPHA:261318
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant...	OMIM:619575
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Trisomy 8Q	Cryptorchidism, Displacement of the urethral meatus, High palate, Bifid tongue, Hypoplasia of pen...	ORPHA:1752
Seckel Syndrome 1	Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:210600
Pde4D Haploinsufficiency Syndrome	Hypospadias, Cryptorchidism	ORPHA:439822
Fg Syndrome Type 1	Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High palate, Hypospadias, Malr...	ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Self-mutilation, Motor stereotypy, Hyperactivity, Macrotia	OMIM:300486
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Motor stereotypy, Agitation	ORPHA:927
Ritscher-Schinzel Syndrome 4	Macrotia, Aggressive behavior, Dysphagia, Motor stereotypy, Impulsivity	OMIM:619435
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Hypospadias, Cleft palate	ORPHA:436003
Chromosome 19Q13.11 Deletion Syndrome, Distal	Hypospadias, Cryptorchidism, Bifid scrotum	OMIM:613026
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Rett Syndrome	Bruxism, Stereotypical hand wringing, Abnormal autonomic nervous system physiology, Motor stereot...	ORPHA:778
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral re...	OMIM:617063
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Bifid scrotum, Anteriorly placed anus, Prominent scrotal raphe, Hypop...	OMIM:123790
Chromosome 9P Deletion Syndrome	High, narrow palate, High palate, Micropenis, Narrow palate, Hypospadias	OMIM:158170
Nizon-Isidor Syndrome	High, narrow palate, Hypospadias	OMIM:618872
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Intestinal malrotation, Cryptorchidism, Renal hypoplasia/aplasia...	ORPHA:2166
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Late Infantile Neuronal Ceroid Lipofuscinosis	Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity	ORPHA:168491
Opitz Gbbb Syndrome	Abnormality of the urinary system, Bifid scrotum, Ankyloglossia, Vesicoureteral reflux, Cryptorch...	ORPHA:2745
Congenital Heart Defects And Skeletal Malformations Syndrome	Intestinal malrotation, Cryptorchidism, Anal atresia, High palate, Hypospadias	OMIM:617602
White-Sutton Syndrome	Low-set ears, Self-injurious behavior, Overfriendliness, Sensorineural hearing impairment, Aggres...	OMIM:616364
Microphthalmia, Lenz Type	Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias	ORPHA:568
Rauch-Steindl Syndrome	Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo...	OMIM:619695
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Hydr...	OMIM:214100
Progeria-Short Stature-Pigmented Nevi Syndrome	Micropenis, Bifid uvula, Hypospadias, Hypergonadotropic hypogonadism	ORPHA:2959
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Clitoral hypertrophy, Hypoplastic labia minora, Cryptorchidism,...	ORPHA:2554
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Protruding tongue, Cryptorchidism, Hydronephrosis, Shawl scrotum, Micropenis, Mac...	OMIM:301040
Cornelia De Lange Syndrome 1	High, narrow palate, Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal cortico...	OMIM:122470
Van Maldergem Syndrome 2	Renal hypoplasia, Anteriorly placed anus, Bifid scrotum, Cryptorchidism, Micropenis, High palate,...	OMIM:615546
Ohdo Syndrome, Sbbys Variant	Hypospadias, Cryptorchidism, Cleft palate	OMIM:603736
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Decreased testicular size, Hypospadias, Cryptorchidism, Bilateral cryptorchidism	OMIM:300998
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Motor stereotypy, Overfriendliness	OMIM:616579
Acrofacial Dysostosis, Catania Type	Hypospadias, Cryptorchidism	ORPHA:1786
Acrocardiofacial Syndrome	Cryptorchidism, Anal atresia, Hypoplasia of penis, Hypospadias, Cleft palate	ORPHA:2008
Dilated Cardiomyopathy With Ataxia	Perineal hypospadias, Hypoplasia of penis, 3-Methylglutaconic aciduria, Bilateral cryptorchidism	ORPHA:66634
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Hydronephrosis, High palate, Glossoptosi...	ORPHA:1358
Chromosome 18Q Deletion Syndrome	Bifid uvula, Cryptorchidism, Micropenis, Hypospadias, Cleft palate	OMIM:601808
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hi...	OMIM:300661
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor...	OMIM:620494
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Aggressive behavior, Attention deficit hyperactivity disorder, Underfolded...	OMIM:300352
20Q13.33 Microdeletion Syndrome	Decreased scrotal rugation, Hypospadias	ORPHA:261311
Smith-Magenis Syndrome	Self-injurious behavior, Conductive hearing impairment, Attention deficit hyperactivity disorder,...	ORPHA:819
Hatipoglu Immunodeficiency Syndrome	Hypospadias, Cryptorchidism	OMIM:620331
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteriorly placed anus, Hypospadias, Cryptorchidism, Cleft palate	OMIM:217980
Scarf Syndrome	Micropenis, Perineal hypospadias, Cryptorchidism, Bifid scrotum	OMIM:312830
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Ileal atresia, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorc...	OMIM:618820
Ellis-Van Creveld Syndrome	Hypospadias, Cryptorchidism, Epispadias	OMIM:225500
Intellectual Developmental Disorder, Autosomal Dominant 38	Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy	OMIM:616393
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Foxg1 Syndrome Due To 14Q12 Microdeletion	Protruding ear, Motor stereotypy, Abnormal antihelix morphology	ORPHA:261144
Ring Chromosome 12 Syndrome	High, narrow palate, Glandular hypospadias, Cryptorchidism, Uterine leiomyoma	ORPHA:1439
Distal Duplication 5Q	Hypospadias, Cryptorchidism	ORPHA:96097
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Unilateral renal agenesis, Abnormal male external genitalia morphology, Abno...	ORPHA:95699
Takenouchi-Kosaki Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias, Cryptorchidism	OMIM:616737
Fryns Syndrome	Meckel diverticulum, Renal agenesis, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Hydro...	OMIM:229850
Meier-Gorlin Syndrome 3	Small scrotum, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Micropenis, Hypoplastic labia m...	OMIM:613803
Fanconi Anemia	Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, High palate, Anal atre...	ORPHA:84
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Micropenis, High palate,...	OMIM:603457
Van Maldergem Syndrome 1	Renal hypoplasia, Anteriorly placed anus, Anal atresia, High palate, Hypospadias	OMIM:601390
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft palate	OMIM:313850
8P23.1 Microdeletion Syndrome	High palate, Hypospadias, Cryptorchidism	ORPHA:251071
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Male urethral meatus stenosis, Furrowed tongue, Hydronephrosis, Hypospadias,...	ORPHA:464738
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Cleft palate	OMIM:619184
Prostate Cancer/Brain Cancer Susceptibility	Prostate cancer	OMIM:603688
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Self-injurious behavior, Optic atrophy, Frequent temper tantrums, Sensorineural hea...	OMIM:619512
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg...	OMIM:212066
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Cryptorchidism, Ana...	OMIM:305450
Proximal 16P11.2 Microdeletion Syndrome	Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hearing impairment, Sensor...	ORPHA:261197
Ellis Van Creveld Syndrome	Hydroureter, Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptor...	ORPHA:289
2Q37 Microdeletion Syndrome	Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear...	ORPHA:1001
White-Sutton Syndrome	Self-injurious behavior, Optic atrophy, Sensorineural hearing impairment, Aggressive behavior, Po...	ORPHA:468678
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Horseshoe kidney, Penile hypospadias, Cryptorchidism, High palate, Hypospadias, Congenital poster...	OMIM:620083
Microphthalmia, Syndromic 6	Aplasia of the optic tract	OMIM:607932
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Sensorineural hearing impairment	ORPHA:435638
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	High palate, Hypospadias	OMIM:609944
3M Syndrome	Hypospadias	ORPHA:2616
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Renal tubular acidosis	OMIM:615471
Cerebrofacioarticular Syndrome	Renal hypoplasia, Anal stenosis, Hypospadias, Anteriorly placed anus	ORPHA:314679
Pentalogy Of Cantrell	Renal agenesis, Hypospadias, Renal dysplasia, Cleft palate	ORPHA:1335
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Precocious puberty, High, narrow palate, Horseshoe kidney, Esophagitis, Cryptorchidism, Hypospadi...	ORPHA:96182
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia	OMIM:615656
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, High, narrow palate, Bifid uvula, Hypogonadism, External genital hypop...	ORPHA:2658
Rapp-Hodgkin Syndrome	Bifid uvula, Velopharyngeal insufficiency, Hypoplastic labia majora, Hypospadias, Cleft palate	OMIM:129400
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia	OMIM:615802
3Q29 Microdeletion Syndrome	Horseshoe kidney, High palate, Hypospadias	ORPHA:65286
Kabuki Syndrome	Precocious puberty, Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic j...	ORPHA:2322
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro...	ORPHA:96121
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Glandular hypospadias, Abnormal preputium morphology, Cleft soft palate	ORPHA:293725
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Duplicated collecting system, Hypospadias, Precocious puberty, Ren...	OMIM:270400
Rett Syndrome, Congenital Variant	Protruding ear, Bruxism, Tongue thrusting, Motor stereotypy	OMIM:613454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria	OMIM:614052
Cystinosis	Polydipsia, Motor stereotypy	ORPHA:213
Phelan-Mcdermid Syndrome	Hearing impairment, Bruxism, Protruding ear, Aggressive behavior, Tongue thrusting, Motor stereot...	OMIM:606232
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Renal cyst, Micropenis, P...	ORPHA:464311
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Renal cortical microcysts, Cryptorchidism, Renal cyst, Polycystic kidney dy...	OMIM:614866
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi...	ORPHA:476126
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Micropenis, Vaginal dryness, Hypospadias, Cleft palate	OMIM:106260
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney,...	ORPHA:464306
3Mc Syndrome 2	Horseshoe kidney, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:265050
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements	OMIM:245348
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Neurogenic bladder, Dysphagia, Motor stereotypy, Macrotia	ORPHA:496641
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Cleft palate	ORPHA:1692
Alg12-Cdg	Intestinal malrotation, Micropenis, Hypospadias, Cryptorchidism	ORPHA:79324
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Optic atrophy, Otosclerosis, Conductive hearing impairment, Decreased n...	ORPHA:580
Dubowitz Syndrome	Anal stenosis, Abnormal female external genitalia morphology, Cryptorchidism, Submucous cleft har...	ORPHA:235
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospadias, Renal dysplasia	ORPHA:397715
Ring Chromosome 13 Syndrome	Bifid scrotum, Anal atresia, Ambiguous genitalia, Urogenital sinus anomaly, Micropenis, High pala...	ORPHA:96176
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis, Hypoplastic labia maj...	OMIM:269150
Baller-Gerold Syndrome	Bifid uvula, Anteriorly placed anus, Perineal fistula, Abnormality of the kidney, High palate, An...	OMIM:218600
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, High, narrow palate, Hypoplastic labia minora, Median cleft palate, Cr...	ORPHA:3107
Megalocornea-Intellectual Disability Syndrome	Protruding ear, Motor stereotypy, Sensorineural hearing impairment	ORPHA:2479
Microphthalmia, Syndromic 3	Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atresia, Micropenis, Hypospadias	OMIM:206900
Huntington Disease-Like 3	Abnormal head movements	ORPHA:157946
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Abnormal temper tantrums, Motor stereotypy, Aggressive behavior	ORPHA:457279
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Microglossia, Hypoplastic labia minora, Cryptorchidism, Renal duplication, Abse...	OMIM:268310
Craniofrontonasal Syndrome	Cleft palate, Hypospadias, Cryptorchidism, Shawl scrotum	OMIM:304110
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias	OMIM:615877
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Clitoral hypertrophy, Microglossia, Multicystic kidney dysplasia...	ORPHA:818
Anemia, Congenital Dyserythropoietic, Type Iv	Micropenis, Hypospadias	OMIM:613673
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, Sensorineural hearing impairment	ORPHA:457351
Brain-Lung-Thyroid Syndrome	Vesicoureteral reflux, Hypospadias, Megacystis	ORPHA:209905
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Leopard Syndrome 1	Unilateral renal agenesis, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Micrope...	OMIM:151100
Otopalatodigital Syndrome Type 2	Ureteral obstruction, Hydronephrosis, Glossoptosis, Hypospadias, Cleft palate	ORPHA:90652
Ogden Syndrome	Low-set ears, Abnormal head movements, Macrotia	ORPHA:276432
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Chordee, Hypospadias, Submucous cleft hard palate	OMIM:618891
Joubert Syndrome 6	Motor stereotypy	OMIM:610688
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Abnormal rectum morphology, Male pseudohermaphro...	ORPHA:2556
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias	ORPHA:73230
Fraser Syndrome	Small scrotum, Anal stenosis, Abnormality of the urinary system, Abnormal vagina morphology, Fema...	ORPHA:2052
Townes-Brocks Syndrome	Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc...	ORPHA:857
Jacobsen Syndrome	Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Pyloric stenosis	OMIM:147791
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Hypospadias	OMIM:210720
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Hypospadias, Ectopic anus, Cleft palate	ORPHA:85199
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, High palate,...	ORPHA:3063
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal corpus callosum morphology, Hypoplastic anterior commissure, Polymicrogyria, Secondary m...	ORPHA:261552
Noonan Syndrome With Multiple Lentigines	Abnormal localization of kidney, Hypospadias, Cryptorchidism	ORPHA:500
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Hair-pulling, Protruding ear, Dysphagia, Hyperactivity, Motor stereotypy	ORPHA:447997
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias	OMIM:620306
Acrocallosal Syndrome	Bifid uvula, Protruding tongue, Cryptorchidism, Anal atresia, Micropenis, High palate, Rectovagin...	OMIM:200990
Townes-Brocks Syndrome 1	Anal stenosis, Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, Ren...	OMIM:107480
Van Esch-O'Driscoll Syndrome	Protruding ear, Attention deficit hyperactivity disorder, Spina bifida occulta, Motor stereotypy,...	OMIM:301030
Cardiac-Urogenital Syndrome	Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia...	OMIM:618280
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Cryptorchidism, Cleft palate	OMIM:300712
Multiple Pterygium Syndrome, Escobar Variant	Cryptorchidism, Absence of labia majora, High palate, Hypospadias, Cleft palate	OMIM:265000
Dyskeratosis Congenita, X-Linked	Oral leukoplakia, Horseshoe kidney, Decreased testicular size, Cryptorchidism, Phimosis, Anal muc...	OMIM:305000
X-Linked Intellectual Disability, Nascimento Type	Micropenis, Vesicoureteral reflux, Hypospadias, Cryptorchidism	ORPHA:163956
Eec Syndrome	Xerostomia, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hy...	ORPHA:1896
Lenz-Majewski Hyperostotic Dwarfism	Microglossia, Anteriorly placed anus, Cryptorchidism, Chordee, Hypospadias, Cleft palate	OMIM:151050
Den Hoed-De Boer-Voisin Syndrome	Stereotypical hand wringing, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Agitation	OMIM:619229
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias, Cleft palate	ORPHA:163979
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Bifid scrotum, Anteriorly placed anus, Bilateral cryptorchidism, Peno...	OMIM:211380
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, Cl...	ORPHA:268261
Vater/Vacterl Association	Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Trache...	OMIM:192350
Trichohepatoenteric Syndrome 1	Bifid uvula, Galactosuria, Villous atrophy, Hypospadias, Renal cortical microcysts	OMIM:222470
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Dubowitz Syndrome	Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palate, High palate, Hypospadias	OMIM:223370
Bainbridge-Ropers Syndrome	Low-set ears, Self-injurious behavior, Recurrent hand flapping, Motor stereotypy, Posteriorly rot...	OMIM:615485
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Anteriorly placed anus, Absent scrotum, Cryptorchidism, Renal cyst, Absence of labia...	ORPHA:495875
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Dilatation of the renal pelvis, Hydrou...	OMIM:265380
Progeroid Short Stature With Pigmented Nevi	Chordee, Hypospadias, Esophageal ulceration	OMIM:176690
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Horseshoe kidney, Cryptorchidism, Micropenis, High palate, Hypospadias, Clitoral h...	OMIM:609945
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ...	ORPHA:699
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal renal collecting system morphology, Methylmalonic aciduria, 3-Methylglutaconic aciduria,...	ORPHA:17
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Imperforate hymen, Hematocolpos, Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Urete...	OMIM:619522
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Nephroblastoma, H...	ORPHA:373
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Monosomy 9P	Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, High palate, Hypospadias...	ORPHA:261112
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d...	OMIM:102500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Micropenis, Hypospadias	OMIM:619479
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Cupped ear, Hearing impairment, Violent behavior, Bruxism, Otitis media, Pr...	OMIM:619475
Branchioskeletogenital Syndrome	Bifid uvula, Absent external genitalia, Anteriorly placed anus, Ureteral stenosis, Submucous clef...	ORPHA:1299
Distal Deletion 15Q	Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Bifid tongue, Abnormal localization of ...	ORPHA:1596
Mosaic Trisomy 16	Horseshoe kidney, Meckel diverticulum, Hypospadias, Anteriorly placed anus	ORPHA:1708
Osteoglophonic Dysplasia	Chordee, Hypospadias, Cryptorchidism, High palate	OMIM:166250
Hartsfield Syndrome	Micropenis, Hypospadias, Cryptorchidism, Cleft palate	OMIM:615465
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus...	OMIM:201750
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis,...	ORPHA:2044
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Abnormal small intestine morphology, Cryptorchidism, Rena...	OMIM:219000
Pitt-Hopkins Syndrome	Self-injurious behavior, Motor stereotypy, Thickened helices, Cupped ear	OMIM:610954
Schinzel-Giedion Syndrome	Anteriorly placed anus, Abnormality of the ureter, Streak ovary, Nephroblastoma, Nephrolithiasis,...	ORPHA:798
Floating-Harbor Syndrome	Varicocele, Nephrocalcinosis, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Celiac disea...	OMIM:136140
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pelvic kidney	ORPHA:508498
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C...	ORPHA:177907
Wiedemann-Steiner Syndrome	Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy	ORPHA:319182
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Ureterocele, Cryptorchidism, Hypospadias, Cleft palate	OMIM:616734
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Chordee, Hypospadias, Cryptorchidism	ORPHA:477993
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, Re...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, Re...	ORPHA:363958
Developmental And Epileptic Encephalopathy 2	Motor stereotypy	OMIM:300672
Microcephalic osteodysplastic primordial dwarfism, type III	High palate, Hypospadias, Bladder exstrophy	OMIM:210730
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypogonadism, Cryptorchidism, Abnormal intestine m...	ORPHA:1606
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation	OMIM:619005
22Q11.2 Deletion Syndrome	Renal hypoplasia, Abnormality of the uterus, Intestinal malrotation, Vesicoureteral reflux, Crypt...	ORPHA:567
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, 3-hydroxydicarboxylic aciduria, Lacticaciduria	OMIM:252010
Diets-Jongmans Syndrome	Hypospadias, Cryptorchidism, Duodenal atresia	OMIM:618846
Renpenning Syndrome 1	Renal hypoplasia, Decreased testicular size, Phimosis, Anal atresia, High palate, Hypospadias, Cl...	OMIM:309500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias	ORPHA:487796
Hajdu-Cheney Syndrome	Intestinal malrotation, Multiple renal cysts, Hypospadias, Cleft palate	ORPHA:955
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting	ORPHA:522077
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Cupped ear, Bruxism, Polyphagia, Posteriorly rotated ears, Attention deficit hypera...	OMIM:615873
Niemann-Pick Disease, Type C2	Motor stereotypy, Dysphagia	OMIM:607625
Dyskeratosis Congenita	Oral leukoplakia, Abnormal morphology of female internal genitalia, Displacement of the urethral ...	ORPHA:1775
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Bifid uvula, Microglossia, Unilateral renal agenesis, Aplasia/...	ORPHA:672
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Bilateral cryptorchidism, Cryptorchidism, Hydronephrosis, Pre...	OMIM:180849
Wolf-Hirschhorn Syndrome	Abnormality of the urinary system, Cryptorchidism, Abnormality of the kidney, Hypospadias, Cleft ...	ORPHA:280
Vici Syndrome	High palate, Median cleft palate, Penile hypospadias, Cleft palate	OMIM:242840
Poland Syndrome	Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, D...	ORPHA:2911
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Volvulus, Abnormality of the uterus, Intestinal malrotation, Renal ...	ORPHA:199
Histidinemia	Hyperactivity	ORPHA:2157
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Horseshoe kidney, Vesicoureteral reflux, Macroglossia, High palate, Glossoptosis, Hypospadias	ORPHA:444077
Coffin-Siris Syndrome	Horseshoe kidney, Hypospadias, Cryptorchidism	ORPHA:1465
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Hydr...	OMIM:135900
6Q Terminal Deletion Syndrome	High, narrow palate, Hypospadias, Phimosis	ORPHA:75857
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Ankyloglossia, Crossed fused renal ectopia, Cryptorchidism, F...	OMIM:619841
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Motor stereotypy	ORPHA:508533
Ring Chromosome 7 Syndrome	Bifid uvula, Hypogonadism, Median cleft palate, Hydrocele testis, Hypospadias, Cleft palate	ORPHA:1449
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micropenis, High palate, Hypospadias, Cryptorchidism	OMIM:309590
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Renal hypoplasia, Hypogonadism, Decreased testicular size, Vesicoureteral reflux, ...	OMIM:309580
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Hair-pulling, Protruding ear, Polyphagia, Motor stere...	OMIM:620330
Campomelic Dysplasia	Submucous cleft hard palate, Hydronephrosis, High palate, Hypospadias, Cleft palate, Sex reversal	OMIM:114290
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Renal artery stenosis, Cryptorchidism, Renovascular hy...	ORPHA:3472
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Diamond-Blackfan Anemia	Renal agenesis, Horseshoe kidney, Cleft soft palate, Adenocarcinoma of the colon, High palate, Hy...	ORPHA:124
Peters Plus Syndrome	Multicystic kidney dysplasia, Hypoplasia of the uterus, Intestinal fistula, Cryptorchidism, Renal...	ORPHA:709
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormality of the urinary system, Recurrent urinary tract infections, Intestinal malrotation, Ve...	ORPHA:353281
Kinsship Syndrome	Low-set ears, Bruxism, Motor stereotypy	OMIM:619297
Hunter-Macdonald Syndrome	Hypospadias	OMIM:611962
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Motor stereotypy, Posteriorly rotated ears, Aggressive behavior	OMIM:301066
Axenfeld-Rieger Syndrome, Type 1	Anal atresia, Hypospadias, Anal stenosis	OMIM:180500
Coffin-Siris Syndrome 12	Velopharyngeal insufficiency, Horseshoe kidney, Cryptorchidism, Submucous cleft hard palate, Celi...	OMIM:619325
Nmda Receptor Encephalitis	Orthostatic tachycardia, Orthostatic hypotension, Abnormal autonomic nervous system physiology, A...	ORPHA:217253
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Abnormality of the urinary system, Recurrent urinary tract infections, Intestinal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Abnormality of the urinary system, Recurrent urinary tract infections, Intestinal ...	ORPHA:353277
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Overfolded helix, Motor stereotypy	OMIM:618653
Tibial Hemimelia	Ambiguous genitalia, Hypospadias, Cryptorchidism, Cleft palate	ORPHA:93322
Developmental And Epileptic Encephalopathy 100	Motor stereotypy, Dysphagia	OMIM:619777
Orofaciodigital Syndrome Xiv	Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidism, Epispad...	OMIM:615948
Kbg Syndrome	Cryptorchidism, Epispadias	OMIM:148050
Witteveen-Kolk Syndrome	High, narrow palate, Microphallus, Male urethral meatus stenosis, Phimosis, Unilateral cryptorchi...	OMIM:613406
Arboleda-Tham Syndrome	Low-set ears, Small earlobe, Optic atrophy, Prominent antihelix, Recurrent otitis media, Underdev...	OMIM:616268
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Decreased testicular size, Hypospadias, Cryptorchidism	ORPHA:459070
Microphthalmia, Syndromic 2	Bifid uvula, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Hypospadias	OMIM:300166
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Motor stereotypy, Dysphagia, Overfolded helix, Posteriorly rotated ears, Small earlobe	OMIM:617330
Wolf-Hirschhorn Syndrome	Precocious puberty, Malrotation of small bowel, Cryptorchidism, Aplasia of the uterus, Hypospadia...	OMIM:194190
Noonan Syndrome 1	High, narrow palate, Hypogonadism, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:163950
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Duplication of renal pelvis...	OMIM:312870
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Bifid uvula, Submucous cleft of soft and hard palate, Multicystic kidney dysplasia,...	ORPHA:261537
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Narrow palate, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uter...	OMIM:276820
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Abnormality of the anus, Ectopic kidney...	OMIM:607872
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Hypospadias, Cleft palate	OMIM:236680
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Abnormality of the kidney, Urinary inconti...	ORPHA:2152
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Overfolded helix, Semilobar holoprosencephaly, Posteriorly rotated ears, Motor stereotypy	OMIM:301044
Peters-Plus Syndrome	Renal hypoplasia, Anteriorly placed anus, Cryptorchidism, Hydronephrosis, Hypoplastic labia major...	OMIM:261540
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Bifid scrotum, Cryptorchidism, Submucous cleft hard palate,...	OMIM:235730
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Short ear, Protruding ear, Aggressive behavior, Posteriorly rotated ears, Attention...	OMIM:614756
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Cryptorchidism, Submucous ...	ORPHA:3455
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Liver Disease, Severe Congenital	Aminoaciduria, Protein-losing enteropathy, Recurrent urinary tract infections, Hyperechogenic kid...	OMIM:619991
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Stereotypical body rocking, Abnormal Eustachian tube morphology, Repetiti...	ORPHA:513456
Wiedemann-Rautenstrauch Syndrome	Long penis, Hypospadias, Cryptorchidism	OMIM:264090
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Hearing impairment, Jerky head movements	ORPHA:369837
Sotos Syndrome	Renal agenesis, Renal insufficiency, Cryptorchidism, Phimosis, Vesicoureteral reflux, Hydronephro...	ORPHA:821
Restrictive Dermopathy	Ureteral duplication, Microcolon, Hypospadias, Submucous cleft hard palate	ORPHA:1662
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Colonic diverticula, Anteriorly placed anus, Septate vagina, Cryptorchidism...	OMIM:243800
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Low-set, posteriorly rotated ears, Protruding ear, Attention deficit hyp...	ORPHA:534
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Hamartoma of tongue, Epispadias, Aplasia of the epiglottis, Bifid tongu...	ORPHA:434179
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Submucous cleft hard palate	OMIM:275210
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryptorchidism, Polycy...	OMIM:268300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Ketonuria, Anteriorly placed anus	OMIM:220111
Norrie Disease	Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairme...	ORPHA:649
Ogden Syndrome	Low-set ears, Recurrent otitis media, Protruding ear, Dysphagia, Motor stereotypy, Macrotia	OMIM:300855
Alzahrani-Kuwahara Syndrome	Hypospadias	OMIM:619268
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Aganglio...	OMIM:308205
Branchiooculofacial Syndrome	Renal agenesis, Cryptorchidism, Renal cyst, Hypospadias, Malrotation of colon, Cleft palate, Pylo...	OMIM:113620
Pallister-Killian Syndrome	Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Intestinal malrotation, Crypto...	OMIM:601803
Sponastrime Dysplasia	Precocious puberty, Hypospadias	ORPHA:93357
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Hypospadias, Cryptorchidism, Cleft palate	OMIM:304120
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Self-injurious behavior, Sensorineural hearing impairment, Protruding ear, Simple e...	OMIM:612474
Microphthalmia, Syndromic 1	High, narrow palate, Renal hypoplasia, Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Aga...	OMIM:309800
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Abnormal intes...	ORPHA:286
Primrose Syndrome	Self-injurious behavior, Hearing impairment, Aggressive behavior, Attention deficit hyperactivity...	OMIM:259050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Motor stereotypy	OMIM:616682
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy	OMIM:309000
Yunis-Varon Syndrome	Cryptorchidism, Micropenis, High palate, Hypospadias, Pyloric stenosis	OMIM:216340
Lacrimoauriculodentodigital Syndrome 1	Xerostomia, Renal agenesis, Absence of Stensen duct, Aplasia of the parotid gland, Coronal hyposp...	OMIM:149730
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage	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 21.1 Data