Gene Summary

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

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 2.33×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

Human diseases caused by Ephb2 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypospadias 1, X-Linked
Perineal hypospadias OMIM:300633
Hypospadias 2, X-Linked
Penoscrotal hypospadias OMIM:300758
Hypospadias 3, Autosomal
Hypospadias OMIM:146450
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Idiopathic Isolated Micropenis
Micropenis ORPHA:95707
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus OMIM:301800
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis OMIM:264600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, External genital hypoplasia OMIM:605231
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Hypospadias-Mental Retardation Syndrome
Hypospadias OMIM:241760
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia OMIM:618709
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Decreased testicular size, Hypospadias OMIM:300997
Methemoglobinemia And Ambiguous Genitalia
Ambiguous genitalia, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Micropenis OMIM:250790
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Isolated Epispadias
Urinary incontinence, Vesicoureteral reflux, Anteriorly displaced urethral meatus, Epispadias, Bi... ORPHA:93928
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Micropenis, Abnormal external genitalia OMIM:600461
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Penile hypospadias, Penoscrotal hypospadias ORPHA:329252
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Prominent scrotal raphe OMIM:227320
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadia... ORPHA:1552
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity OMIM:612069
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Image Syndrome
Cryptorchidism, Hypogonadism, Hydronephrosis, Hypospadias ORPHA:85173
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Bowen Syndrome Of Multiple Malformations
Hypospadias OMIM:211200
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis ORPHA:1381
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lambert Syndrome
Hypospadias OMIM:245550
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Immunodeficiency 8
Hyperactivity OMIM:615401
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypogonadism, Hypospadias OMIM:615985
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Stereotypy, Macrotia OMIM:615541
Androgen Insensitivity, Partial
Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadias, Male pseud... OMIM:312300
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Alopecia-Mental Retardation Syndrome 4
Hypospadias, Micropenis, Bilateral cryptorchidism OMIM:618840
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Cleft palate, Renal cyst, Hypospadias OMIM:231060
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Congenital Short Bowel Syndrome
Displacement of the urethral meatus, Intestinal hypoplasia, Intestinal malrotation ORPHA:2301
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:609425
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Urethral diver... ORPHA:95706
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality... ORPHA:2842
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Nephrolithiasis, Hypoplasia of penis ORPHA:1816
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Hypospadias OMIM:616489
Mosaic Trisomy 14
Cryptorchidism, Hypospadias, Ectopic anus, Cleft palate, High palate, Hypoplasia of penis ORPHA:1703
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Omodysplasia 2
Cryptorchidism, Micropenis, Hypospadias OMIM:164745
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Serkal Syndrome
Malrotation of small bowel, Hypoplasia of the bladder, Sex reversal, Abnormal penis morphology, H... ORPHA:139466
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Abnormal internal genitalia, Multi... ORPHA:2973
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Hypospadias OMIM:612626
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Ectop... ORPHA:83628
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology ORPHA:1548
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Anal atresia, Rectal atresia, Perineal fistula ORPHA:3016
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive spastic parap... ORPHA:280763
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Hyperac... OMIM:617302
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Micropenis, Hypercalciuria, Hypospadias OMIM:614732
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Intellectual Disability, Wolff Type
Cryptorchidism, Abnormal intestine morphology, Hypospadias ORPHA:3080
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Bifid cl... OMIM:600057
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis, Cleft palate OMIM:614175
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Renal hypoplasia/aplasia, Renal dysplasia, Hypospadias ORPHA:2508
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Ambiguous genitalia ORPHA:276422
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter ORPHA:1046
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereoty... OMIM:617695
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Abruzzo-Erickson Syndrome
Cryptorchidism, Abnormal localization of kidney, Coronal hypospadias, Cleft palate, Hypospadias ORPHA:921
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphroditism, Hypo... ORPHA:752
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Lower Urinary Tract Obstruction, Congenital
Pollakisuria, Urinary incontinence, Urethral stenosis, Vesicoureteral reflux, Congenital posterio... OMIM:618612
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Sex reversal, Bicornuate uterus, Hypospadias, True hermaphroditism, Clito... OMIM:400045
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Myoclonus, Stereotypy, Large fleshy ears OMIM:619092
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Intestinal malrotation, Abnormal... ORPHA:93930
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Cleft palate ORPHA:2013
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Diphallia
Cryptorchidism, Duplicated colon, Renal malrotation, Horseshoe kidney, Bifid scrotum, Rectoperine... ORPHA:227
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Shawl scrotum, Gastritis, Nephrotic syndrome, Hypospadias ORPHA:2575
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Glutaric aciduria, 3-Methylglutaric aciduria, Hypospadias, Decreased testicular size OMIM:610198
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias OMIM:300934
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Hypergonadotropic hypogonadism, Hypospadias, Decreased testicu... ORPHA:163971
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Pyloric stenosis, Aganglionic megacolon,... OMIM:601095
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... ORPHA:275864
Lambert Syndrome
Hypospadias ORPHA:1296
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias OMIM:604273
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Hypospadias, Tr... OMIM:601346
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anal atresia, High palate, Renal hypoplasia/aplasia ORPHA:2863
Mental Retardation, Autosomal Recessive 65
Cryptorchidism, Hypospadias OMIM:618109
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias OMIM:301045
Interstitial Cystitis
Pollakisuria, Abnormal vagina morphology, Nocturia, Urinary bladder inflammation, Abnormal labia ... ORPHA:37202
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, O... OMIM:617807
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Wagr Syndrome
Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia ORPHA:893
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Bifid uvula, Hypospadias, High, narrow palate, Micropenis ORPHA:2872
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias OMIM:618688
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Cryptorchidism, Decreased testicular size, Hypospadias OMIM:300998
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Laurence-Moon Syndrome
Cryptorchidism, Renal insufficiency, Displacement of the urethral meatus, Hypoplasia of penis ORPHA:2377
Lamb-Shaffer Syndrome
Ataxia, Stereotypy, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction ORPHA:530983
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Testicular seminoma, Nephroblastoma, Congenital poster... OMIM:180860
Townes-Brocks Syndrome 2
Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula, Anal atresia, Hypospadias OMIM:617466
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal hypoplasia, Hypospadias, Renal agenesis, Micropenis ORPHA:171839
Sotos Syndrome 3
Hyperactivity OMIM:617169
Seckel Syndrome 2
Hypospadias, Microglossia, Ectopic kidney OMIM:606744
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Stereotypy ORPHA:85278
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Macrotia, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Tonne-Kalscheuer Syndrome
Cryptorchidism, Hypospadias, Decreased testicular size, Micropenis, Velopharyngeal insufficiency OMIM:300978
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Macroglossia, Hypospadias, Decreased testicular size, Hypogonadism, Micropenis OMIM:300354
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Aganglionic megacolon, Bifid scrotum, Cleft palate ORPHA:66629
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, Hyperactivity, Babinski sign, Spasticity OMIM:617773
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Cree Mental Retardation Syndrome
Cryptorchidism, Cleft soft palate, Bifid scrotum, Hypospadias OMIM:606851
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Renal agen... ORPHA:887
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Stereotypy, Progressive spasticity DECIPHER:45
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paral... ORPHA:43
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking ORPHA:505652
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk, Parki... ORPHA:79264
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Cleft palate, Hypospadias ORPHA:397590
Fetal Trimethadione Syndrome
Hypospadias, High palate, Ambiguous genitalia ORPHA:1913
Acrofrontofacionasal Dysostosis 2
Hypospadias, High palate, Shawl scrotum, Bifid scrotum OMIM:239710
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... ORPHA:208447
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Pyloric stenosis, Horseshoe kidney, Hypospadias OMIM:218350
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Renal insufficiency, Cleft palate, Hydronephrosis, Hypospadias, High palate OMIM:611209
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Hypospadias OMIM:191482
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impairmen... OMIM:609727
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Scrotal hypoplasia, Cleft palate, Hypospadias, Micropenis OMIM:617164
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Pyelonephritis, Chordee, Bifid scrotum, Ureteropelvic junction obstr... OMIM:140000
Mental Retardation, Buenos Aires Type
Hypospadias, High palate, Abnormality of the urinary system OMIM:249630
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Renpenning Syndrome
Hypospadias, Anal atresia, Cleft palate, Decreased testicular size, High, narrow palate ORPHA:3242
Hypertelorism And Tetralogy Of Fallot
Hypospadias OMIM:239711
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Coffin-Siris Syndrome 6
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Stereotypy, Attention def... OMIM:617808
Methimazole Embryofetopathy
Hypospadias, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Diamond-Blackfan Anemia 5
Hypospadias OMIM:612528
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hypospadias, Micropenis, Varicocele ORPHA:8
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Myoclonus, Stereotypy, Large earlobe ORPHA:411986
Pick Disease Of Brain
Stereotypy OMIM:172700
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, High palate, Micropenis, Abnorm... ORPHA:1772
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Broad-based gait, Spasticity ORPHA:457260
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Ovotestis, Decreased testicular size, External genital hypoplasia, Hypospadi... OMIM:610644
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hearing impairment, Hyperactivity, Tetraplegia, Optic atrophy ORPHA:369939
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias OMIM:618972
Non-Syndromic Anorectal Malformation
Rectourethral fistula, Rectal fistula, Hydrocolpos, Persistent cloaca, Ectopic anus, Rectovaginal... ORPHA:557
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Renal salt wasting,... ORPHA:90791
Genitopalatocardiac Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Gonadal dysgenesis, male, Male pseudohermaphroditis... ORPHA:2075
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Crossed fused renal ectopia, Renal agenesis, Horseshoe kidney, Perine... ORPHA:2538
Arthrogryposis Multiplex Congenita 6
Hypospadias OMIM:619334
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Hyperactivity, Ataxia, Spasticity OMIM:610042
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, High palate, Aganglionic megacol... ORPHA:2473
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypoplasia of the bladder, Sex reversal, Cleft palate, Hypospadias, Renal agenesis OMIM:611812
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Repetitive ... ORPHA:401777
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Triploidy
Cryptorchidism, Ambiguous genitalia, Macroglossia, Intestinal malrotation, Cleft palate, Hypoplas... ORPHA:3376
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Horseshoe kidney, Recurrent urinary tract infections, Unilateral... ORPHA:363444
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Optic atrophy, Stereotypy ORPHA:313892
Mental Retardation, Autosomal Dominant 23
Hypospadias OMIM:615761
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Scrotal hypopla... OMIM:612651
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Facial d... OMIM:619121
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Recurrent urinary tract infections, Ureteropelvic junction obstruction... ORPHA:2438
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Cleft palate OMIM:616449
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hypospadias OMIM:614613
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Esophageal atresia, Hypoplasia of penis, Hypospadias, Tracheoesophageal fistula ORPHA:77298
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Stereotypy, Macrotia ORPHA:391307
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Landau-Kleffner Syndrome
Gait ataxia, Speech apraxia, Slurred speech, Hyperactivity, Steppage gait, Frequent falls, Attent... ORPHA:98818
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Underf... OMIM:300352
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
Acrofrontofacionasal Dysostosis
Hypospadias, High palate, Bifid scrotum, Cleft palate ORPHA:1784
Craniofrontonasal Dysplasia
Hypospadias, High palate, Shawl scrotum ORPHA:1520
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Abnormality of the kidney, 3-Methylglutaconic aciduria, Hypospadias ORPHA:1194
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Scrotal hypoplasia, Cleft palate, Hypospadias ORPHA:2505
Juberg-Hayward Syndrome
Hypospadias, Anteriorly placed anus, Horseshoe kidney ORPHA:2319
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hypospadias, Esophagitis ORPHA:79350
Smith-Magenis Syndrome
Hearing impairment, Morphological abnormality of the middle ear, Stereotypy, Hyperactivity OMIM:182290
Ritscher-Schinzel Syndrome 1
Hypospadias, Anal atresia, Hydronephrosis, Cleft palate OMIM:220210
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, High palate, Hypospadias OMIM:614541
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Gait disturbance, Ataxia, Myoclonus, Stereotypy, Hyperacti... ORPHA:168491
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Stereotypy ORPHA:228384
Mental Retardation, Autosomal Dominant 48
Hypospadias OMIM:617751
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia OMIM:617268
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias, Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cl... OMIM:619314
Meier-Gorlin Syndrome 7
Cryptorchidism, Anal stenosis, High palate, Duodenal stenosis, Cleft palate, Vesicoureteral reflu... OMIM:617063
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Abnormal pyramidal sign, Abnormal autonomic ner... ORPHA:35069
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Vesicoureteral reflux, Renal atrophy, Hypospadias OMIM:618659
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Stereotypy, Broad-based gait OMIM:616351
Mend Syndrome
Hypertonia, Hydrocephalus, Hyperactivity OMIM:300960
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, Hypospadias ORPHA:98791
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... ORPHA:485350
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Anal atresia, Hydronephrosis, Abnormality of the female genitalia, Hy... ORPHA:2315
4Q21 Microdeletion Syndrome
Hearing impairment, Tremor, Stereotypy ORPHA:238750
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:98784
Stankiewicz-Isidor Syndrome
Cryptorchidism, Hypospadias, Shawl scrotum, Ureteral duplication, Micropenis OMIM:617516
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Hyperactivity OMIM:271980
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... ORPHA:139396
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Stereotypy, Hyperactivity ORPHA:3306
Marden-Walker Syndrome
Cryptorchidism, Renal hypoplasia, Cleft palate, Hypospadias, High palate, High, narrow palate, Py... OMIM:248700
Oeis Complex
Cryptorchidism, Bifid uterus, Duplicated colon, Renal agenesis, Ambiguous genitalia, male, Hydrou... OMIM:258040
48,Xxyy Syndrome
Stereotypy, Tremor, Attention deficit hyperactivity disorder, Ataxia ORPHA:10
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
High palate, Cryptorchidism, Renal dysplasia, Hypospadias OMIM:300004
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Repetitive compulsive behavior, Attention deficit hyperact... ORPHA:391372
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypospadias, External genital hypoplasia OMIM:177980
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Conductive hearing impairment, Paroxysmal dyskinesia, Sensorineural hea... ORPHA:261197
Opitz Gbbb Syndrome, Type I
Cryptorchidism, Hypospadias, Anal atresia, Cleft palate, High palate OMIM:300000
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Abnormality of the pinna, Hearing impairment, Stereotypy, Hyperac... OMIM:123450
Harrod Syndrome
Cryptorchidism, High palate, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Potocki-Lupski Syndrome
Hearing impairment, Stereotypy, Hyperactivity OMIM:610883
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Recurrent urinary tract infections, Enuresis, Hypospadias, Labial hypoplasia OMIM:619293
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Paraplegia, Lethargy, Ataxia ORPHA:927
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactivity, Gait imbalan... ORPHA:98794
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bladder duplication, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemiparesis, Hemidystonia, Involuntary movements, Attention def... ORPHA:1929
Schilbach-Rott Syndrome
Bifid uvula, Hypospadias, Submucous cleft hard palate OMIM:164220
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Bilatera... ORPHA:90793
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Horseshoe kidney, Recurrent urinary tract infections, Vesicoureteral reflux, Hypo... OMIM:619103
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Acute kidney injury, Horseshoe kidney, Absent vas deferens, Multicystic kidney dy... ORPHA:93111
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Hearing impairment, Broad-based gait, Spasticity OMIM:300958
3C Syndrome
Intestinal malrotation, Cleft palate, Ectopic anus, Anal atresia, Hydronephrosis, Hypoplasia of p... ORPHA:7
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Cleft palate, Scrotal hypoplasia, Hypospadias OMIM:616734
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly OMIM:616975
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias OMIM:618316
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:760
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Scrotal hypoplasia, Micropenis, Hypospadias OMIM:607143
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Micropenis, Bilateral cryptorchidism OMIM:618336
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypospadias OMIM:603463
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Zellweger Syndrome
Cryptorchidism, High palate, Pyloric stenosis, Multicystic kidney dysplasia, Hydronephrosis, Hypo... ORPHA:912
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Recurrent urinary tract infections,... OMIM:617053
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Dystonia, Macrotia, Ataxia, Stereotypy, Fasciculations, Tetraplegia, Progress... ORPHA:496641
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Recurrent hand flapping, Hyperactivity, Stereotypy, Attention deficit hyperactivity dis... ORPHA:449291
15Q24 Microdeletion Syndrome
Cryptorchidism, Microphallus, Anal atresia, Hypospadias, Intestinal atresia ORPHA:94065
Squalene Synthase Deficiency
Hypospadias, Bilateral cryptorchidism OMIM:618156
Microtia
Anotia, Hypoplastic helices, Holoprosencephaly, Atresia of the external auditory canal, Abnormali... ORPHA:83463
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Chordee, Bilateral cryptorchidism, Renal dysplasia, Hypospadias, Premature o... ORPHA:96179
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Hearing impairment, Attention deficit hyperactivity disorder, Stereo... ORPHA:1727
Radio-Tartaglia Syndrome
Tremor, Conductive hearing impairment, Ataxia, Hearing impairment, Stereotypy, Attention deficit ... OMIM:619312
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, High palate, Short uvula, Renal cyst, Polycystic kidney dysplasia, Cleft palate... OMIM:614091
Childhood Absence Epilepsy
Jerky head movements, Limb myoclonus, Punding, Attention deficit hyperactivity disorder ORPHA:64280
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Micropenis, Hydronephrosis OMIM:616897
Koolen-De Vries Syndrome
Cryptorchidism, Narrow palate, High, narrow palate, Vesicoureteral reflux, Hydronephrosis, Cleft ... ORPHA:96169
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Lactose intolerance, Intestinal polyp, Hypospadias ORPHA:457485
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Fryns Syndrome
Cryptorchidism, High palate, Intestinal malrotation, Aganglionic megacolon, Multicystic kidney dy... ORPHA:2059
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Stereotypy ORPHA:79155
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Abnormality of the urinary system, Abnormality of mal... ORPHA:813
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Hypoplasia of the uter... ORPHA:90796
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Hypertonia, Myoclonus ORPHA:289266
Axenfeld-Rieger Syndrome
Hypospadias, Anal stenosis ORPHA:782
Cdags Syndrome
Rectourethral fistula, Rectovaginal fistula, Anal atresia, Cleft palate, Hypospadias OMIM:603116
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
Kleefstra Syndrome 1
Cryptorchidism, Macroglossia, Abnormal renal morphology, Protruding tongue, Hypospadias, Micropenis OMIM:610253
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Vesicoureteral reflux, Hypospadias ORPHA:494344
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Hypospadias ORPHA:500159
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Hypospadias,... OMIM:301056
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Protruding ear, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity OMIM:615286
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Midgut malrotation, Cleft palate, Hypospadias, High, narrow palate, Pyl... ORPHA:2409
Distal Monosomy 9P
Hypoplastic labia majora, Hypospadias, High, narrow palate, Cleft palate ORPHA:1642
Severe Congenital Nemaline Myopathy
Hypospadias, Micropenis ORPHA:171430
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aganglionic megacolon, Abnormality of the ureter, Abnormality of the b... ORPHA:3339
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Abnormali... ORPHA:3378
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Anal stenosis, Hypospadias OMIM:601499
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Pyloric stenosis, Penoscrotal transposition, Anal atresia, Hypospa... OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Macrotia, Chorea, Ataxia, Lower limb spasticity, Stereotypy, Progressive spast... OMIM:300260
Ogden Syndrome
Lethargy, Macrotia, Hypertonia, Torticollis, Abnormal head movements, Shuffling gait ORPHA:276432
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Cryptorchidism, Macroglossia, Protruding tongue, Hypospadias, High palate, Micropenis OMIM:141750
Three M Syndrome 1
Decreased testicular size, Hypospadias OMIM:273750
3Mc Syndrome 3
Cryptorchidism, Horseshoe kidney, Bifid scrotum, Penoscrotal hypospadias, Cleft palate, Micropenis OMIM:248340
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Intestinal malrotation, Anal atresia, Hypospadias, High palate OMIM:617602
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Bifid scrotum, Hypospadias ORPHA:217346
Myhre Syndrome
Cryptorchidism, Abnormal penis morphology, External genital hypoplasia, Cleft palate, Hypospadias... ORPHA:2588
Kleefstra Syndrome
Cryptorchidism, Macroglossia, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Hypospadias, Ren... ORPHA:261494
Orofaciodigital Syndrome Type 4
Renal agenesis, Absent testis, Perineal fistula, Decreased testicular size, Rectovaginal fistula,... ORPHA:2753
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Anal atresia, Hypospadias, An... OMIM:309801
Angelman Syndrome Due To A Point Mutation
Ataxia, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Broad-based gait ORPHA:411511
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Hypospadias, Cleft palate, Shawl scrotum, Micropenis OMIM:600460
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias ORPHA:3224
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:615873
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Microphthalmia, Syndromic 3
Cryptorchidism, Esophageal atresia, Hypogonadotropic hypogonadism, Hypospadias, Micropenis OMIM:206900
Scarf Syndrome
Cryptorchidism, Micropenis, Bifid scrotum, Perineal hypospadias ORPHA:3134
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the ureter, Clef... ORPHA:2311
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Shawl scrotum, Hypospadias, Epispadias ORPHA:2211
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Renal agenesis, Protruding tongue, Hydronephrosis, Hypospadias, Sha... OMIM:301040
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Dilated Cardiomyopathy With Ataxia
Dystonia, Ataxia, Action tremor, Lower limb spasticity, Bilateral sensorineural hearing impairmen... ORPHA:66634
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal penis morphology, Abnormality of the urinary system, Multic... ORPHA:2461
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypospadias, High palate OMIM:619272
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Trisomy 20P
Cryptorchidism, Multiple renal cysts, Macroorchidism, Abnormality of the ureter, Abnormal localiz... ORPHA:261318
19P13.12 Microdeletion Syndrome
Cryptorchidism, Cleft palate, Precocious puberty, Hypospadias ORPHA:254346
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Glandular hypospadias, Narrow palate, High palate, Shawl scrotum, Hypoplastic labia majora, Hypos... OMIM:604314
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Hypospadias ORPHA:439822
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Hypospadias, Cleft soft ... ORPHA:2282
3P25.3 Microdeletion Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Ataxia ORPHA:435638
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Bifid scrotum, Hypospadias OMIM:613026
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Albuminuria, High palate, Aminoaciduria, Protruding tongue, Hydrone... OMIM:214100
Trisomy 8Q
Cryptorchidism, Bifid tongue, Cleft palate, High palate, Displacement of the urethral meatus, Hyp... ORPHA:1752
Distal Xq28 Microduplication Syndrome
Absent antihelix, Stereotypical body rocking, Microtia, Tip-toe gait, Attention deficit hyperacti... ORPHA:293939
Transketolase Deficiency
Hearing impairment, Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Van Maldergem Syndrome 2
Cryptorchidism, Bifid scrotum, Renal hypoplasia, High palate, Hypospadias, Micropenis OMIM:615546
Seckel Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Cleft palate, High palate OMIM:210600
Rapp-Hodgkin Syndrome
Hypoplastic labia majora, Cleft palate, Bifid uvula, Hypospadias, Velopharyngeal insufficiency OMIM:129400
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Bifid uvula, Hypospadias, Micropenis, Premature ovarian insuffici... ORPHA:2959
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Hypospadias, Micropenis, Cleft palate OMIM:106260
Nizon-Isidor Syndrome
Hypospadias, High, narrow palate OMIM:618872
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Sensorineural heari... ORPHA:209905
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Hypertonia, Cerebral palsy, Stereotypy OMIM:618914
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplastic l... ORPHA:2554
Chromosome 9P Deletion Syndrome
Hypospadias, High palate, High, narrow palate, Micropenis OMIM:158170
Baller-Gerold Syndrome
Perineal fistula, Rectovaginal fistula, Anal atresia, Cleft palate, Bifid uvula, High palate, Ant... OMIM:218600
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria, Hypospadias OMIM:619147
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, High palate, Medullary nephrocalcinosis, Hypospadias, Micropenis ORPHA:363528
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperact... ORPHA:72
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Upper limb spasticity, Ataxia, Posteriorly rotated ears, Lower limb sp... OMIM:619229
Fg Syndrome Type 1
Cryptorchidism, Malrotation of colon, Anal atresia, Abnormal large intestine morphology, Hypospad... ORPHA:93932
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait ORPHA:98795
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Protruding ear, Stereotypy ORPHA:261144
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, High palate ORPHA:363686
Meier-Gorlin Syndrome 3
Cryptorchidism, Scrotal hypoplasia, Hypoplastic labia minora, Hypospadias, Clitoral hypertrophy, ... OMIM:613803
Scarf Syndrome
Cryptorchidism, Micropenis, Bifid scrotum, Perineal hypospadias OMIM:312830
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Sensorineural hearing impairment, Ataxia, Protruding ear ORPHA:2479
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Intestinal malrotation, Abnormal localization of kidney, Hyp... ORPHA:2166
Cornelia De Lange Syndrome 1
Cryptorchidism, Abnormal renal morphology, Hiatus hernia, Renal hypoplasia, High palate, High, na... OMIM:122470
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Cleft palate, Bifid uvula, Hypospadias, Micropenis OMIM:601808
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Nephroblastoma, Renal cyst, Cleft palate, Hyp... OMIM:257300
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Aplasia/Hypoplasia of the tongue, Hydronephrosis, Glossoptosis, Cleft pala... ORPHA:1358
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Stereotypy ORPHA:213
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Cleft palate, Anteriorly placed anus, Hypospadias OMIM:217980
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Ileal atresia, Chordee, Streak ovary, Jejunal atresia, ... OMIM:618820
Smith-Magenis Syndrome
Conductive hearing impairment, Gait disturbance, Attention deficit hyperactivity disorder, Stereo... ORPHA:819
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Anal stenosis, Renal hypoplasia, Urethral valve, Mul... OMIM:107480
Distal Trisomy 5Q
Cryptorchidism, Hypospadias ORPHA:96097
Ellis-Van Creveld Syndrome
Cryptorchidism, Epispadias, Hypospadias OMIM:225500
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity OMIM:103050
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Ring Chromosome 12 Syndrome