Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Ephb2em1(IMPC)Mbp HOM Early adult 0.00
increased exploration in new environment Ephb2em1(IMPC)Mbp HOM   Early adult 8.32×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

35 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Ephb2 mutations

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

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

The table below shows human diseases associated to Ephb2 by orthology or direct annotation.

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

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

Disease Similarity of
phenotypes
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
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... OMIM:615542
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:264600
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy 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
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias 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, Hydrocephalus, Motor stereotypy OMIM:618709
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Isolated Epispadias
Epispadias, Bifid clitoris, Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced ure... ORPHA:93928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Hydrocephalus, Motor stereotypy, Aggressive behavior OMIM:619470
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, High palate, Bifid scrotum, Penile ... ORPHA:456328
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608636
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias OMIM:302905
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Abnormal intestine morphology, Bifid scrotum, Vesicoureteral re... ORPHA:1552
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Hypogonadism OMIM:615985
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Anal fistula, Sep... ORPHA:237
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Lambert Syndrome
Hypospadias OMIM:245550
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Anal atresia, Hypoplasia of penis ORPHA:1381
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
Image Syndrome
Cryptorchidism, Hypospadias, Hypogonadism, Hydronephrosis ORPHA:85173
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Motor stereotypy OMIM:617830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior 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
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Genitopalatocardiac Syndrome
Cleft palate, Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Bifid scrotum, Anal atresia, Urethral diverticulum, Cleft palate, Displacemen... 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
Cryptorchidism, Hypospadias ORPHA:250994
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Bifid scrotum, Abs... OMIM:201810
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Glandular hypospadias, High palate, Bifid scrotum, Bilate... OMIM:300219
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior OMIM:619150
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Ectopic anus, High palate, Cleft palate, Cryptorchidism ORPHA:1703
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Nephrolithiasis, Hypoplasia of penis ORPHA:1816
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Bardet-Biedl Syndrome 6
Renal cyst, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Serkal Syndrome
Hypospadias, Hypoplasia of the bladder, Renal agenesis, Malrotation of small bowel, Abnormal peni... ORPHA:139466
Lumbar Syndrome
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Renal agenesis, Bi... ORPHA:83628
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Hypospadias ORPHA:1548
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal burst... OMIM:618718
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula ORPHA:3016
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Abnormal head movements, Aggressive behavior ORPHA:382
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Myelomeningocele, Motor stereotypy, Attenti... OMIM:620141
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Hypospadias, Cryptorchidism ORPHA:3080
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Renal dysplasia, Renal hypoplasia/aplasia, Hypospadias ORPHA:2508
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Tra... ORPHA:2973
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly... OMIM:600057
Primary Dystonia, Dyt13 Type
Jerky head movements, Motor stereotypy ORPHA:98807
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate, Abnormal localization of kidney, Cryptorchidism, Coronal hypospadias ORPHA:921
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Cleft Palate-Large Ears-Small Head Syndrome
Cleft palate, Hypospadias ORPHA:2013
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... ORPHA:275864
Bladder Exstrophy
Epispadias, Bladder exstrophy, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urina... ORPHA:93930
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum ORPHA:2575
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Hypospadias OMIM:300997
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias OMIM:300934
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Cryptorchidism, Micropenis, Hypospadias OMIM:614732
Diphallia
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... ORPHA:227
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Crypto... ORPHA:163971
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, High palate, Anal atresia, Midshaft hypospadias, Cryptorchidism ORPHA:2863
Lambert Syndrome
Hypospadias ORPHA:1296
Fg Syndrome 5
Hypospadias OMIM:300581
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias 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
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias OMIM:618688
Martinez-Frias Syndrome
Hypospadias, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal at... OMIM:601346
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Silver-Russell Syndrome 1
Hypospadias, Testicular seminoma, Abnormality of the ureter, Urethral valve, Congenital posterior... OMIM:180860
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor stereotypy, ... OMIM:618342
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Hypospadias OMIM:300919
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Hypospadias, Bifid uvula, Cryptorchidism, Micropenis 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, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy OMIM:618917
Laurence-Moon Syndrome
Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Intellectual Developmental Disorder, X-Linked 30
Agitation, Hyperactivity, Hydrocephalus, Macrotia, Restlessness, Aggressive behavior OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... OMIM:614104
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus... OMIM:617466
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias OMIM:618330
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis ORPHA:171839
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size, 3-Methylglutaric aciduria, C... OMIM:610198
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Decreased testicular size, Hypogonadism, Macroglossia, Micropenis OMIM:300354
Foxg1 Syndrome
Motor stereotypy, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter ORPHA:561854
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... OMIM:182290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Hypospadias OMIM:619759
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Dysphagia, Motor stereotypy OMIM:617435
Tonne-Kalscheuer Syndrome
Hypospadias, Decreased testicular size, Velopharyngeal insufficiency, Cryptorchidism, Micropenis OMIM:300978
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Fetal Trimethadione Syndrome
Ambiguous genitalia, High palate, Hypospadias ORPHA:1913
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Hydrocele testis OMIM:618972
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Hypospadias ORPHA:544254
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
Seckel Syndrome 2
Ectopic kidney, Hypospadias, Microglossia OMIM:606744
Acrofacial Dysostosis, Catania Type
Cleft palate, Hypospadias, Cryptorchidism OMIM:101805
Goldberg-Shprintzen Megacolon Syndrome
Cleft palate, Aganglionic megacolon, Bifid scrotum, Hypospadias ORPHA:66629
Teebi Hypertelorism Syndrome 2
Cleft palate, High palate, Hypospadias OMIM:619736
Pontocerebellar Hypoplasia, Type 11
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... OMIM:617695
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Tracheoesophageal fistula, Anal ... ORPHA:887
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Cryptorchidism, Horseshoe kidney, Hypospadias OMIM:218350
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Bifid scrotum, Microphallus, Cleft palate, Abnormal scrotum morphology, Cryptorchidism ORPHA:397590
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Renpenning Syndrome
High, narrow palate, Hypospadias, Anal atresia, Decreased testicular size, Cleft palate ORPHA:3242
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis OMIM:617516
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... OMIM:140000
Acrofrontofacionasal Dysostosis 2
Shawl scrotum, High palate, Bifid scrotum, Hypospadias OMIM:239710
Methimazole Embryofetopathy
Esophageal atresia, Hypospadias, Tracheoesophageal fistula ORPHA:1923
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Cleft palate, Bifid uvula, Micropenis OMIM:614175
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Cryptorchidism, Micropenis, Macroorchidism ORPHA:8
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias, Azoospermia, Ur... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... OMIM:618825
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistul... 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
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... 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, External genital hypoplasia, Ovotestis, Hypospadias, Decreased testicular s... OMIM:610644
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Stereotypical hand wringing, Skin-picking, Abnormal neur... ORPHA:163681
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Craniofrontonasal Dysplasia
Shawl scrotum, High palate, Hypospadias ORPHA:1520
Diamond-Blackfan Anemia 5
Hypospadias OMIM:612528
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal temper tantrums, Optic atrophy, Motor stereotypy ORPHA:530983
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements ORPHA:71518
Arthrogryposis Multiplex Congenita 6
Hypospadias OMIM:619334
Hand-Foot-Genital Syndrome
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter... ORPHA:2438
Christianson Syndrome
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cleft palate, Cryptorchidi... OMIM:164745
Cree Mental Retardation Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias, Cleft soft palate OMIM:606851
Triploidy
Hypospadias, Hypoplasia of penis, Cryptorchidism, Intestinal malrotation, Cleft palate, Ambiguous... ORPHA:3376
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Aganglionic megacolon, Renal hypoplasia/aplasia, Glandular hypospadias, Ectopic... ORPHA:2473
Seckel Syndrome 5
Clitoral hypertrophy, Hypospadias, High palate, Cleft palate, Cryptorchidism OMIM:613823
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Cleft palate, Gonadal dysgenesis, male, Cryptorchidism, ... ORPHA:2075
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Hypospadias, Hypoplasia of penis, Tracheoesophageal fistula, Cryptorchidism ORPHA:77298
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, High palate, Hypospadias OMIM:614541
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Hypospadias ORPHA:79350
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Vesicoureteral reflux, Cryptorchidism, Hypospadias, Renal atrophy OMIM:618659
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Cryptorchidism, Hypospadias, Abnormality of the kidney ORPHA:1194
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Large fleshy ears, Motor stereotypy OMIM:619092
Potocki-Lupski Syndrome
Hyperactivity, Hearing impairment, Motor stereotypy, Oral-pharyngeal dysphagia OMIM:610883
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... ORPHA:449291
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Xq28 (MECP2) duplication
Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias, Anal atresia OMIM:175700
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hypospadias OMIM:614613
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Renal agenesis, Cleft palate, Hypoplasia of the bladder, Sex reversal OMIM:611812
Buratti-Harel Syndrome
Hypospadias, High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate,... OMIM:619314
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Motor stereotypy OMIM:619877
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Bifid scrotum, Hypospadias ORPHA:1784
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Endometriosis, Recurrent urina... ORPHA:363444
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Cleft palate, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, Hypospadias ORPHA:98791
15Q24 Microdeletion Syndrome
Hypospadias, Anal atresia, Microphallus, Intestinal atresia, Cryptorchidism ORPHA:94065
Juberg-Hayward Syndrome
Horseshoe kidney, Anteriorly placed anus, Hypospadias ORPHA:2319
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Silver-Russell Syndrome 3
Ambiguous genitalia, Penoscrotal hypospadias, Unilateral cryptorchidism OMIM:616489
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Ritscher-Schinzel Syndrome 1
Cleft palate, Hypospadias, Anal atresia, Hydronephrosis OMIM:220210
Cri-Du-Chat Syndrome
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Low-set ears, Oppositional defiant disor... OMIM:123450
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Labial hypoplasia, Recurrent urinary tract infections, Enuresis, Cryptorchidism OMIM:619293
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Renal dysplasia, Cryptorchidism, High palate, Hypospadias OMIM:300004
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:610042
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... OMIM:618430
Marden-Walker Syndrome
High, narrow palate, Hypospadias, High palate, Pyloric stenosis, Renal hypoplasia, Cleft palate, ... OMIM:248700
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Squalene Synthase Deficiency
Hypospadias, Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elevated urinary meva... OMIM:618156
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Hearing impairment, Motor stereotypy, Att... OMIM:619580
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Hypospadias OMIM:164220
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Hypospadias ORPHA:500159
Intellectual Developmental Disorder, X-Linked 112
Hypospadias, Ectopic kidney, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Harrod Syndrome
Cryptorchidism, High palate, Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Hermansky-Pudlak Syndrome 6
Urinary incontinence, Endometriosis, Recurrent urinary tract infections, Neurogenic bladder, Peri... OMIM:614075
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic female external genitalia, Hypospadias OMIM:177980
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal... ORPHA:93111
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Huntington Disease-Like 1
Jerky head movements, Abnormal head movements, Restlessness ORPHA:157941
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Unilateral cleft palate, ... OMIM:619103
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Vesicoureteral reflux, High palate, Anal atresia, Cleft palat... OMIM:300000
4Q21 Microdeletion Syndrome
Hearing impairment, Self-injurious behavior, Low-set ears, Motor stereotypy ORPHA:238750
Mirage Syndrome
Hypospadias, Recurrent urinary tract infections, Microphallus, Decreased testicular size, Hypergo... OMIM:617053
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Cryptorchidism, Hypospadias OMIM:618316
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy OMIM:619317
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Progressive hearing impairment, Disinhibition, Attention defic... ORPHA:43
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, High palate, Cleft palate, Small scrotum, Cryptorchidism, Micropenis OMIM:617164
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn... OMIM:137920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Megarectum, Cry... OMIM:301056
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics OMIM:619725
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Hypospadias, Vesicoureteral reflux ORPHA:494344
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
3C Syndrome
High, narrow palate, Hypospadias, Hypoplasia of penis, Ectopic anus, Anal atresia, Intestinal mal... ORPHA:7
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... OMIM:300986
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Axenfeld-Rieger Syndrome
Anal stenosis, Hypospadias ORPHA:782
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Ectopic anus, Vesicoureteral reflux, High palate, Bicornuate ... ORPHA:2059
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, Prominent antihelix, Motor stereotypy OMIM:617807
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear OMIM:618914
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Vesicoureteral reflux, Pyl... ORPHA:96169
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Macrotia, Motor stereotypy OMIM:618004
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Self-mutilation, Motor stereotypy ORPHA:457240
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Dysphagia, Motor stereotypy ORPHA:79264
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Decreased t... ORPHA:813
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
Hypogonadotropic hypogonadism, Micropenis, Hypospadias, Cryptorchidism OMIM:619718
Distal Deletion 9P
High, narrow palate, Cleft palate, Hypospadias, Hypoplastic labia majora ORPHA:1642
Kleefstra Syndrome 1
Hypospadias, Abnormal renal morphology, Protruding tongue, Cryptorchidism, Micropenis, Macroglossia OMIM:610253
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Hypospadias, Polycystic kidney dysplasia, High palate, Renal cyst, Renal hypoplasia,... OMIM:614091
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Cleft palate, Cryptorchidism, Abnormal morphology of fema... 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
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, Stereotypical body... OMIM:300912
Episodic Ataxia Type 4
Abnormal head movements ORPHA:79136
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Bilateral cryptorchidism, Chordee, Renal dysplasia, Renal insufficiency 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
Attention deficit hyperactivity disorder, Jerky head movements, Punding ORPHA:64280
Intellectual Disability-Strabismus Syndrome
Hypospadias, High palate, Medullary nephrocalcinosis, Cryptorchidism, Micropenis ORPHA:363528
3Mc Syndrome 3
Penoscrotal hypospadias, Bifid scrotum, Cleft palate, Cryptorchidism, Micropenis, Horseshoe kidney OMIM:248340
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity diso... OMIM:617061
Lowry-Maclean Syndrome
High, narrow palate, Hypospadias, Midgut malrotation, Bilateral cryptorchidism, Pyloric stenosis,... ORPHA:2409
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Ankyloglossia, Macroorchidism OMIM:618874
Orofaciodigital Syndrome Type 4
High, narrow palate, Renal hypoplasia/aplasia, Rectovaginal fistula, Monorchism, Perineal fistula... ORPHA:2753
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, High palate, Pyloric stenosis, Hydronephrosis, Cryptorchidism,... ORPHA:912
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias OMIM:618109
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias ORPHA:3224
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Cryptor... ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, High palate, Hypospadias OMIM:300260
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Intestinal polyp ORPHA:457485
Ocular Motor Apraxia
Jerky head movements OMIM:257550
19P13.12 Microdeletion Syndrome
Precocious puberty, Cleft palate, Hypospadias, Cryptorchidism ORPHA:254346
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Toriello-Lacassie-Droste Syndrome
Epispadias, Aganglionic megacolon, Hypospadias, Abnormality of the bladder, Abnormality of the ur... ORPHA:3339
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Hypospadias OMIM:619272
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy OMIM:618205
Radio-Tartaglia Syndrome
Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Dysphagia, Motor st... OMIM:619312
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Facial diplegia, Motor stereotypy, Aggressive behavior OMIM:619121
Trisomy 13
High, narrow palate, Abnormality of the ureter, Cleft palate, Displacement of the urethral meatus... ORPHA:3378
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Cleft palate, Nephroblastom... OMIM:257300
Three M Syndrome 1
Decreased testicular size, Hypospadias OMIM:273750
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, High palate, Glossoptosis, Cleft palate, Hydronephrosis, ... OMIM:611209
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Cleft p... ORPHA:2588
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias ORPHA:217346
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, High palate, Bifid scrotum, Anal atresia, Pyloric stenosi... OMIM:619148
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Scarf Syndrome
Perineal hypospadias, Bifid scrotum, Micropenis, Cryptorchidism ORPHA:3134
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, High palate, Furrowed tongue, Cleft palate, Hydronephrosis OMIM:616449
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Chronic otitis media, Motor stereotypy ORPHA:10
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Micropenis, Hypospadias OMIM:607143
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Motor stereotypy OMIM:617802
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Epispadias, Hypospadias, Bifid scrotum, Shawl scrotum, Abnormal penis morphology ORPHA:2211
Cdags Syndrome
Rectourethral fistula, Hypospadias, Rectovaginal fistula, Anal atresia, Cleft palate OMIM:603116
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Male pseudohermaphroditism, Submucous cleft soft palate, Shawl sc... ORPHA:2282
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Anal atresia, Chordee, Cl... OMIM:309801
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Narrow palate, Hypospadias, Glandular hypospadias, High palate, Shawl scrotum, Hypoplastic labia ... OMIM:604314
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cleft palate, Shawl scrotum, Cryptorchidism, Micropenis OMIM:600460
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Median cleft palate, Microphallus, Hyperechogenic kidneys, Small sc... OMIM:612651
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Trisomy 20P
Abnormality of the kidney, Hypospadias, Ectopic anus, Abnormality of the ureter, Hydronephrosis, ... ORPHA:261318
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Hydrocephalus, Sensorineural hearing impairment, Low-set ea... OMIM:619575
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Trisomy 8Q
Hypoplasia of penis, High palate, Cleft palate, Displacement of the urethral meatus, Cryptorchidi... ORPHA:1752
Seckel Syndrome 1
Clitoral hypertrophy, Hypospadias, High palate, Cleft palate, Cryptorchidism OMIM:210600
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Hypospadias ORPHA:439822
Fg Syndrome Type 1
Hypospadias, High palate, Anal atresia, Abnormal large intestine morphology, Pyloric stenosis, Ma... ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy OMIM:300486
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Motor stereotypy ORPHA:927
Ritscher-Schinzel Syndrome 4
Impulsivity, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior 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, Cleft palate, Glossoptosis, Hypospadias ORPHA:436003
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Bifid scrotum, Hypospadias OMIM:613026
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Rett Syndrome
Agitation, Abnormal autonomic nervous system physiology, Stereotypical hand wringing, Motor stere... ORPHA:778
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Hypospadias, Vesicoureteral reflux, High palate, Anal atresi... OMIM:617063
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Hypospadias, High palate, Bifid scrotum, Prominent scrotal raphe, Bifid uvula, Ant... OMIM:123790
Chromosome 9P Deletion Syndrome
Narrow palate, High, narrow palate, Hypospadias, High palate, Micropenis OMIM:158170
Nizon-Isidor Syndrome
High, narrow palate, Hypospadias OMIM:618872
Holoprosencephaly-Postaxial Polydactyly Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anal atresia, Intestinal malrotation,... ORPHA:2166
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Obsessive-compulsive trait, Motor stereotypy, Aggressive behavior ORPHA:168491
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Opitz Gbbb Syndrome
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Tracheoesopha... ORPHA:2745
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, High palate, Anal atresia, Intestinal malrotation, Cryptorchidism OMIM:617602
White-Sutton Syndrome
Hyperactivity, Optic nerve hypoplasia, Sensorineural hearing impairment, Bilateral sensorineural ... OMIM:616364
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:568
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Clitoral hypertrophy, Hypospadias, High palate, Protruding tongue, Cryptorch... OMIM:214100
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Micropenis, Hypospadias, Hypergonadotropic hypogonadism ORPHA:2959
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, High, narrow palate, Hypospadias, Hypoplasia of penis, Hypoplas... ORPHA:2554
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Protruding tongue, Cryptorchidism, Renal agenesis, Hydronephrosis, Shawl scrotum, Ma... OMIM:301040
Cornelia De Lange Syndrome 1
High, narrow palate, Hypospadias, Ectopic kidney, Abnormal renal morphology, Hypoplastic male ext... OMIM:122470
Van Maldergem Syndrome 2
Hypospadias, High palate, Bifid scrotum, Renal hypoplasia, Cryptorchidism, Micropenis, Anteriorly... OMIM:615546
Ohdo Syndrome, Sbbys Variant
Cleft palate, Hypospadias, Cryptorchidism OMIM:603736
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Decreased testicular size, Cryptorchidism, Hypospadias, 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
Cryptorchidism, Hypospadias ORPHA:1786
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Anal atresia, Cleft palate, Cryptorchidism ORPHA:2008
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Perineal hypospadias, Bilateral cryptorchidism, Hypoplasia of penis ORPHA:66634
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, High palate, Glossoptosis, Cleft palate, Hydronephrosis, Aplasia/Hypoplasi... ORPHA:1358
Chromosome 18Q Deletion Syndrome
Hypospadias, Cleft palate, Bifid uvula, Cryptorchidism, Micropenis OMIM:601808
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, High palate, Uric acid nephrolithiasis, Urolithiasis, Hyperuricosuria, Cryptorchidis... OMIM:300661
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Microtia, Compulsive behaviors, Hearing impairment, Posteriorly rotated ears, Motor stereotypy, A... OMIM:620494
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... ORPHA:819
20Q13.33 Microdeletion Syndrome
Decreased scrotal rugation, Hypospadias ORPHA:261311
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias OMIM:620331
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cleft palate, Anteriorly placed anus, Hypospadias, Cryptorchidism OMIM:217980
Scarf Syndrome
Perineal hypospadias, Bifid scrotum, Micropenis, Cryptorchidism OMIM:312830
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Streak ovary, Urogenital si... OMIM:618820
Ellis-Van Creveld Syndrome
Epispadias, Cryptorchidism, Hypospadias OMIM:225500
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Ring Chromosome 12 Syndrome
Glandular hypospadias, High, narrow palate, Uterine leiomyoma, Cryptorchidism ORPHA:1439
Distal Duplication 5Q
Cryptorchidism, Hypospadias ORPHA:96097
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, High, narrow palate, Hypospadias, Abnormal ovarian... ORPHA:95699
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hypospadias, Hydronephrosis OMIM:616737
Fryns Syndrome
Aganglionic megacolon, Ureteral duplication, Hypospadias, Esophageal atresia, Meckel diverticulum... OMIM:229850
Meier-Gorlin Syndrome 3
Clitoral hypertrophy, Hypospadias, Hypoplastic labia minora, Small scrotum, Cryptorchidism, Micro... OMIM:613803
Fanconi Anemia
Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheoesophageal fistu... ORPHA:84
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, High palate, Cleft palate, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism... OMIM:603457
Van Maldergem Syndrome 1
Hypospadias, High palate, Anal atresia, Renal hypoplasia, Anteriorly placed anus OMIM:601390
Thoracoabdominal Syndrome
Renal agenesis, Cleft palate, Hypospadias OMIM:313850
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Hypospadias ORPHA:251071
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Hypospadias, Furrowed tongue, Cleft palate, Hydronephrosis, Male urethral me... ORPHA:464738
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Cleft palate, Hypospadias 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
Optic atrophy, Aqueductal stenosis, Hyperactivity, Hydrocephalus, Sensorineural hearing impairmen... OMIM:619512
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... ORPHA:261197
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorl... OMIM:212066
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Hypospadias, Anal atresia, Intestinal malrotation, Pyloric stenosis... OMIM:305450
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:289
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... ORPHA:1001
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... ORPHA:468678
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Motor stereotypy ORPHA:435638
Microphthalmia, Syndromic 6
Aplasia of the optic tract OMIM:607932
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, High palate, Congenital posterior urethral valve, Penile hypospadias, Cryptorchidism... OMIM:620083
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, Anteriorly placed anus, Hypospadias ORPHA:314679
Pentalogy Of Cantrell
Renal dysplasia, Renal agenesis, Cleft palate, Hypospadias ORPHA:1335
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Hypospadias, Esophagitis, Precocious puberty, Renal dysplasia, Cryptorchidis... ORPHA:96182
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy OMIM:615656
Rapp-Hodgkin Syndrome
Hypospadias, Velopharyngeal insufficiency, Cleft palate, Bifid uvula, Hypoplastic labia majora OMIM:129400
Lenz-Majewski Hyperostotic Dwarfism