Gene Summary

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

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 1.97×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 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
Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Ambiguous genitalia, Mic... OMIM:615542
Idiopathic Isolated Micropenis
Micropenis ORPHA:95707
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
46,Xx Sex Reversal 4
Micropenis, Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy OMIM:617480
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Bifid scrotum OMIM:264600
Spina Bifida-Hypospadias Syndrome
Hypospadias ORPHA:3176
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, 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
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Hypospadias OMIM:250790
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Isolated Epispadias
Bifid clitoris, Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoure... ORPHA:93928
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Micropenis, Abnormal external genitalia, Hypospadias OMIM:600461
46,Xy Ovotesticular Disorder Of Sex Development
Abnormality of the clitoris, Abnormality of the female genitalia, Perineal hypospadias, Ovotestis... ORPHA:325345
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... ORPHA:98807
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Penile hypospadias, Glandular hypospadias, Cryptorchidism, Micropenis, Penoscrotal h... ORPHA:456328
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Spastic tetraplegia OMIM:616657
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Bifid scrotum, Ambigu... OMIM:201810
Faciothoracogenital Syndrome
Shawl scrotum, Glandular hypospadias, Prominent scrotal raphe OMIM:227320
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Currarino Syndrome
Hypoplasia of penis, Male pseudohermaphroditism, Abnormal intestine morphology, Bifid scrotum, Ve... ORPHA:1552
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
46,Xy Sex Reversal 6
Chordee, Hypospadias, Gonadoblastoma, Sex reversal, Dysgerminoma, Clitoral hypertrophy OMIM:613762
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... OMIM:194072
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements, Abnormal head movements OMIM:616939
Bowen Syndrome Of Multiple Malformations
Hypospadias OMIM:211200
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Image Syndrome
Cryptorchidism, Hydronephrosis, Hypospadias, Hypogonadism ORPHA:85173
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia ORPHA:1381
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Hydrocephalus, Optic atrophy, Tremor OMIM:619470
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Duplication Of Urethra
Chordee, Unilateral renal hypoplasia, Dysuria, Uterus didelphys, Recurrent urinary tract infectio... ORPHA:237
Lambert Syndrome
Hypospadias OMIM:245550
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Hypogonadism OMIM:615985
Immunodeficiency 8
Hyperactivity OMIM:615401
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Androgen Insensitivity, Partial
Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphroditism, Bifid ... OMIM:312300
Congenital Short Bowel Syndrome
Intestinal malrotation, Displacement of the urethral meatus, Intestinal hypoplasia ORPHA:2301
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male, Cleft palate OMIM:231060
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity, Limb ata... ORPHA:251282
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Penile hypospadias, High palate, Glandular hypospadias, Micropenis, Am... OMIM:300219
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Urethral diverticulum, Cryptorchidism, Micropenis, Anal atresia, ... ORPHA:95706
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormality of the basal ganglia, Primary microcephaly, Small basa... ORPHA:300570
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Nephrolithiasis, Hypospadias ORPHA:1816
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hypospadias ORPHA:250994
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Hypospadias OMIM:616489
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Spasticity, Optic atrophy, Tremor OMIM:300983
Mosaic Trisomy 14
High palate, Ectopic anus, Cryptorchidism, Hypoplasia of penis, Cleft palate, Hypospadias ORPHA:1703
Omodysplasia 2
Cryptorchidism, Hypospadias, Micropenis OMIM:164745
Phenobarbital Embryopathy
Hypospadias ORPHA:1919
Lumbar Syndrome
Renal agenesis, Hypoplastic labia majora, Ectopic anus, Renal duplication, Micropenis, Cryptorchi... ORPHA:83628
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Hypoplasia of the bladder,... ORPHA:139466
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Hypospadias, Micropenis OMIM:612626
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Hypospadias, Micropenis OMIM:301830
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydroureter, Hydronephrosis, Intestinal malrotation, Tracheoesophageal fistula, Abnormal internal... ORPHA:2973
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Hypospadias ORPHA:1548
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias, Cleft palate OMIM:614175
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Spasticity, Chorea, Motor stereotypy ORPHA:88616
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Rectal atresia, Perineal fistula, Anal atresia ORPHA:3016
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Low-set ears, Motor stereotypy, Hyperactivity, Cerebral palsy, Sp... ORPHA:352490
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Hyperactivity, Dysmetria, Tremor OMIM:618090
Intellectual Disability, Wolff Type
Cryptorchidism, Abnormal intestine morphology, Hypospadias ORPHA:3080
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Anteriorly placed... OMIM:600057
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Renal dysplasia, Hypospadias, Renal hypoplasia/aplasia ORPHA:2508
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Optic Atrophy 11
Dysmetria, Optic atrophy, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Hyperkinetic movement... OMIM:617302
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Hypercalciuria, Hypospadias, Micropenis OMIM:614732
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hypospadias, Micropenis OMIM:618815
Abruzzo-Erickson Syndrome
Cryptorchidism, Abnormal localization of kidney, Cleft palate, Coronal hypospadias, Hypospadias ORPHA:921
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia, A... ORPHA:752
Lower Urinary Tract Obstruction, Congenital
Congenital posterior urethral valve, Urinary incontinence, Vesicoureteral reflux, Urethral stenos... OMIM:618612
Bladder Exstrophy
Abnormality of the clitoris, Abnormality of the ureter, Intestinal malrotation, Bladder exstrophy... ORPHA:93930
Bladder Diverticulum
Solitary bladder diverticulum, Hematuria, Dysuria, Urethral sphincter sclerosis, Urinary hesitanc... OMIM:109820
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Cleft palate ORPHA:2013
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, True hermaphroditism, Sex reversal, Bicornuate uterus, Hypospadias, Clito... OMIM:400045
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Diphallia
Ectopic scrotum, Horseshoe kidney, Renal malrotation, Ureteral duplication, Cryptorchidism, Abnor... ORPHA:227
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Nephrotic syndrome, Glandular hypospadias, Shawl scrotum, Hypospadias, Gastritis ORPHA:2575
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis ORPHA:71518
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Abnormal head mov... ORPHA:382
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Cryptorchidism, Glutaric aciduria, Hypospadias, Decreased testicular size OMIM:610198
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Micropenis, Blind vagina, Aplasia of th... ORPHA:90797
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias OMIM:300934
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidity, Chorea... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Tetraplegia, Optic atrophy, Hypertonia OMIM:274270
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias OMIM:618109
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Hypergonadotropic hypogonadism, Hypospadias, Decreased testicu... ORPHA:163971
Foxg1 Syndrome
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Spasticity, Hyperkinetic movement... ORPHA:561854
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign ORPHA:280763
Harrod Syndrome
High palate, Malrotation of small bowel, Renal cortical microcysts, Cryptorchidism, Aganglionic m... OMIM:601095
Lambert Syndrome
Hypospadias ORPHA:1296
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Cryptorchidism, Midshaft hypospadias, Anal atresia, Renal hypoplasia/aplasia ORPHA:2863
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Tracheoesophageal fistula, Jejunal atresia, Hyposp... OMIM:601346
Fragile X Syndrome
Hyperactivity, Macrotia, Abnormal head movements, Recurrent hand flapping OMIM:300624
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal labia morphology, Abnormal sex determination, Ambiguous genitalia, Clito... ORPHA:251510
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias OMIM:604273
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Hypospadias OMIM:618688
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias OMIM:301045
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ataxia, To... ORPHA:3095
Lamb-Shaffer Syndrome
Motor stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Optic atrophy ORPHA:530983
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Sensorineural hearing impairment OMIM:204000
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Abnormal vagina morphology, ... ORPHA:37202
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Hypospadias OMIM:300919
Episodic Ataxia Type 4
Incoordination, Frequent falls, Abnormal head movements, Ataxia ORPHA:79136
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Seckel Syndrome 2
Microglossia, Ectopic kidney, Hypospadias OMIM:606744
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Cryptorchidism, Micropenis, High, narrow palate, Hypospadias ORPHA:2872
Glycine Encephalopathy
Hyperactivity, Myoclonus OMIM:605899
Laurence-Moon Syndrome
Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency ORPHA:2377
Silver-Russell Syndrome 1
Abnormality of the ureter, Testicular seminoma, Congenital posterior urethral valve, Nephroblasto... OMIM:180860
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor OMIM:204100
Townes-Brocks Syndrome 2
Rectovaginal fistula, Crossed fused renal ectopia, Anal atresia, Bifid uterus, Hypospadias OMIM:617466
Intellectual Developmental Disorder, Autosomal Recessive 61
Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated ears, Babinski sign OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Micropenis, Macroglossia, Hypospadias, Hypogonadism, Decreased testicular size OMIM:300354
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Cryptorchidism, Renal hypoplasia, Micropenis, Hypospadias ORPHA:171839
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Fasciculations, Abnormality of extrapyramidal motor function, Mot... ORPHA:275864
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size OMIM:300978
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Abnormal morphology of female internal genitalia, Hydronephrosis,... ORPHA:887
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Hypospadias, Cleft palate, Bifid scrotum ORPHA:66629
Cree Mental Retardation Syndrome
Cryptorchidism, Cleft soft palate, Hypospadias, Bifid scrotum OMIM:606851
Fetal Trimethadione Syndrome
Ambiguous genitalia, Hypospadias, High palate ORPHA:1913
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Hyperactivity, Lower limb spasticity, Ataxia, Cerebral palsy, Abnorm... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping OMIM:615516
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Recurrent hand flapping, Macrotia, Tremor ORPHA:544254
Hand-Foot-Genital Syndrome
Pyelonephritis, Chordee, Micropenis, Uterus didelphys, Hypospadias, Longitudinal vaginal septum, ... OMIM:140000
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cryptorchidism, Hydronephrosis, Cleft palate, Renal insufficiency, Hypospadias OMIM:611209
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
High palate, Small scrotum, Micropenis, Cleft palate, Hypospadias OMIM:617164
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Hypospadias OMIM:191482
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Cleft palate, Bifid scrotum, Microphallus, Hypospadias, Abnormality of the scrotum ORPHA:397590
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Poor motor coordination, Optic disc pallor, Clu... ORPHA:79264
Acrofrontofacionasal Dysostosis 2
High palate, Shawl scrotum, Hypospadias, Bifid scrotum OMIM:239710
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Hypospadias, Pyloric stenosis OMIM:218350
Mental Retardation, Buenos Aires Type
High palate, Hypospadias, Abnormality of the urinary system OMIM:249630
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Lower limb spasticity, Spastic paraplegia, Clonu... OMIM:609727
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Esophageal atresia ORPHA:1923
Renpenning Syndrome
Hypospadias, Anal atresia, High, narrow palate, Cleft palate, Decreased testicular size ORPHA:3242
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, Low-set ears, Tremor OMIM:618718
Hypertelorism And Tetralogy Of Fallot
Hypospadias OMIM:239711
Christianson Syndrome
Gait ataxia, Truncal ataxia, Macrotia, Motor stereotypy ORPHA:85278
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias OMIM:618972
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Hyperactivity, Ataxia, Macrotia, Thickened helices OMIM:614104
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Optic atrophy, Motor stereotypy ORPHA:313892
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hyperactivity, Tetraplegia, Optic atrophy, Hearing impairment ORPHA:369939
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Hypospadias ORPHA:8
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, Ov... ORPHA:1772
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal helix morphology, Optic nerve hypoplasia, Spasticity, Pr... ORPHA:401777
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Macrotia, Hydrocephalus OMIM:300558
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Gait ataxia, Poor motor coordinatio... ORPHA:363400
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Lennox-Gastaut Syndrome
Hyperactivity, Myoclonus ORPHA:2382
Diamond-Blackfan Anemia 5
Hypospadias OMIM:612528
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy ORPHA:391307
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, External genital hypoplasia, Ambiguous genitalia, Hypospadias, Clitoral hypertrophy, D... OMIM:610644
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Stereotypical hand wringing, Spasticity, Chorea OMIM:618917
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Myoclonus, Motor stereotypy ORPHA:411986
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Cryptorchidism, Azoospermia, Renal salt wasting, Ambiguous geni... ORPHA:90791
Microgastria-Limb Reduction Defect Syndrome
Renal agenesis, Hiatus hernia, Rectovaginal fistula, Horseshoe kidney, Microgastria, Crossed fuse... ORPHA:2538
Arthrogryposis Multiplex Congenita 6
Hypospadias OMIM:619334
X-Linked Adrenoleukodystrophy
Incoordination, Progressive hearing impairment, Paralysis, Hyperactivity, Paraparesis, Hemiparesi... ORPHA:43
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Cryptorchidism, Multicystic kidney dysplasia, Male pseudohermaphroditis... ORPHA:2075
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Motor stereotypy ORPHA:228402
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Recurrent hand flapping OMIM:617268
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Hyperactivity, Limb hypertonia, Gait ataxia, Spasticity, Chorea, Abnorma... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias OMIM:615761
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Cleft palate OMIM:616449
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Motor stereotypy ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias OMIM:617751
Triploidy
Cryptorchidism, Intestinal malrotation, Hypoplasia of penis, Macroglossia, Cleft palate, Ambiguou... ORPHA:3376
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Hyperactivity, Lower limb spasticity, Tremor ORPHA:3077
Cln5 Disease
Dysmetria, Hyperactivity, Poor gross motor coordination, Ataxia, Spasticity, Dysdiadochokinesis, ... ORPHA:228360
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Spastic tetraplegia, Motor stereotypy, Paroxysmal dyskinesia, Spasticity ORPHA:208447
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Glandular hypospadias, Cryptorchidism, Hydronephrosis, Aganglionic meg... ORPHA:2473
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Recurrent urinary tract infections, Ureteropelvic junction obstruction... ORPHA:2438
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Velopharyngeal insufficiency, Micropenis, Abnormalit... ORPHA:363444
Non-Syndromic Anorectal Malformation
Ectopic anus, Rectovaginal fistula, Rectal fistula, Rectourethral fistula, Hydrocolpos, Anal atre... ORPHA:557
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Hypospadias OMIM:614613
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Small scrotum, Cryptorchidism, Micropenis, Hyperechogenic kidneys, Cleft palate,... OMIM:612651
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Abnormality of the kidney, 3-Methylglutaconic aciduria, Hypospadias ORPHA:1194
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy ORPHA:3306
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Tracheoesophageal fistula, Hypoplasia of penis, Esophageal atresia, Hypospadias ORPHA:77298
Cdkl5-Deficiency Disorder
Stereotypical hand wringing ORPHA:505652
Mend Syndrome
Hydrocephalus, Hyperactivity, Low-set ears, Hypertonia OMIM:300960
Craniofrontonasal Dysplasia
High palate, Shawl scrotum, Hypospadias ORPHA:1520
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Ovotestis, Hypoplasia of the bladder, Cleft palate, Sex reversal, Hypospadias OMIM:611812
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Spasticity, Oromotor apraxia, Hypoplastic helices, Attention defi... ORPHA:391372
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Hypospadias ORPHA:79350
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Tremor, Ataxia, Motor stereotypy ORPHA:10
Acrofrontofacionasal Dysostosis
High palate, Hypospadias, Cleft palate, Bifid scrotum ORPHA:1784
Juberg-Hayward Syndrome
Anteriorly placed anus, Horseshoe kidney, Hypospadias ORPHA:2319
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Buratti-Harel Syndrome
High palate, Bifid uvula, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard pala... OMIM:619314
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, High palate, Hypospadias OMIM:614541
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Cryptorchidism, Cleft palate, Hypospadias, Abnormality of the scrotum ORPHA:2505
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Vesicoureteral reflux, Renal atrophy, Hypospadias OMIM:618659
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Abnormal vagina morphology, Hydronephrosis, Hypoplasia of pe... ORPHA:2315
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, Hypospadias ORPHA:98791
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydronephrosis, Hypospadias, Cleft palate OMIM:220210
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Hearing impairment ORPHA:457260
Meier-Gorlin Syndrome 7
High palate, Anal stenosis, Cryptorchidism, Micropenis, Hypospadias, Anal atresia, Duodenal steno... OMIM:617063
Pterygia, Mental Retardation, And Distinctive Craniofacial Features
Hypospadias, External genital hypoplasia OMIM:177980
Oeis Complex
Renal agenesis, Hydroureter, Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Micropenis, In... OMIM:258040
Stankiewicz-Isidor Syndrome
Ureteral duplication, Cryptorchidism, Micropenis, Shawl scrotum, Hypospadias OMIM:617516
Marden-Walker Syndrome
High palate, Cryptorchidism, Renal hypoplasia, Micropenis, High, narrow palate, Pyloric stenosis,... OMIM:248700
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Motor stereotypy, Hyperactivity, Ataxia, Spasticity, Myoclonus ORPHA:168491
Landau-Kleffner Syndrome
Frequent falls, Hyperactivity, Speech apraxia, Gait ataxia, Slurred speech, Attention deficit hyp... ORPHA:98818
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hyperactivity, Hypertonia OMIM:617865
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Spasticity, Chorea, Motor stereotypy ORPHA:178469
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Choreoathetosis, Limb hypertonia, Ataxia, Recurrent hand flapping, Gait ataxia, Ton... OMIM:619580
Myopathy With Extrapyramidal Signs
Frequent falls, Choreoathetosis, Hyperactivity, Ataxia, Clonus, Chorea, Clumsiness, Abnormality o... OMIM:615673
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias OMIM:618316
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Enuresis, Recurrent urinary tract infections, Labial hypoplasia, Hypospadias OMIM:619293
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy ORPHA:98784
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, High palate, Renal dysplasia, Hypospadias OMIM:300004
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Apraxia, Hyperactivity, Hoffmann sign, Lower limb spasticity, At... ORPHA:139396
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Conductive hearing impairment, Sensorin... ORPHA:261197
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Epididymal cyst, Renal cyst, Multiple glomerular cysts, De... OMIM:137920
22Q11.2 Duplication Syndrome
Hearing impairment, Attention deficit hyperactivity disorder, Anterior creases of earlobe, Motor ... ORPHA:1727
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Horseshoe kidney, Cryptorchidism, Unilateral cleft palate, Submucous cleft hard palate, Recurrent... OMIM:619103
15Q24 Microdeletion Syndrome
Cryptorchidism, Anal atresia, Intestinal atresia, Microphallus, Hypospadias ORPHA:94065
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Macrotia, Attention deficit hyperactivi... ORPHA:449291
Opitz Gbbb Syndrome
High palate, Cryptorchidism, Anal atresia, Cleft palate, Hypospadias OMIM:300000
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity, Hyperkinetic movements OMIM:271980
Childhood Absence Epilepsy
Punding, Limb myoclonus, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Small scrotum, Hypospadias, Micropenis OMIM:607143
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Harrod Syndrome
Cryptorchidism, High palate, Hypospadias, Multicystic kidney dysplasia ORPHA:2115
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Hypospadias OMIM:164220
Exstrophy-Epispadias Complex
Cryptorchidism, Absent penis, Renal dysplasia, Bladder duplication, Cystocele, Penoscrotal transp... ORPHA:322
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias, Cleft palate OMIM:616734
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Myoclonus, Hypertonia ORPHA:289266
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Marbach-Schaaf Neurodevelopmental Syndrome
Tremor, Speech apraxia, Recurrent hand flapping, Posteriorly rotated ears, Torticollis, Attention... OMIM:619680
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypospadias OMIM:603463
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Micropenis, Increased urinary 11-deoxycorti... ORPHA:90793
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Papillary cystadenoma of the epididymis, Horseshoe kidney, Renal Fanconi syndrome... ORPHA:93111
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Spasticity, Chorea, Dysdia... OMIM:610217
3C Syndrome
Ectopic anus, Hydronephrosis, Intestinal malrotation, Hypoplasia of penis, High, narrow palate, A... ORPHA:7
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Motor stereotypy ORPHA:319671
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618336
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Renal dysplasia, Bilateral cryptorchidism, Renal insufficiency, Premature ovarian insuff... ORPHA:96179
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Hypospadias ORPHA:500159
Mirage Syndrome
Cryptorchidism, Shawl scrotum, Esophageal stricture, Recurrent urinary tract infections, Micropha... OMIM:617053
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Hypospadias ORPHA:435938
Zellweger Syndrome
High palate, Cryptorchidism, Hydronephrosis, Multicystic kidney dysplasia, Pyloric stenosis, Mala... ORPHA:912
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Squalene Synthase Deficiency
Hypospadias, Bilateral cryptorchidism OMIM:618156
3Mc Syndrome 3
Horseshoe kidney, Cryptorchidism, Micropenis, Penoscrotal hypospadias, Bifid scrotum, Cleft palate OMIM:248340
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypospadias, Cleft palate OMIM:616897
Fryns Syndrome
High palate, Ectopic anus, Cryptorchidism, Hydronephrosis, Intestinal malrotation, Hypospadias, A... ORPHA:2059
Cri-Du-Chat Syndrome
High palate, Bifid uvula, Cryptorchidism, Abnormality of the kidney, Hypospadias OMIM:123450
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Spastic paraparesis, Hyperactivity, Ataxia, Cerebral palsy, Spa... ORPHA:760
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusting, Myoclonus, Tremor ORPHA:98794
Koolen-De Vries Syndrome
Ureteral duplication, Renal duplication, Cryptorchidism, Hydronephrosis, Hypospadias, High, narro... ORPHA:96169
Kleefstra Syndrome 1
Cryptorchidism, Micropenis, Macroglossia, Protruding tongue, Hypospadias, Abnormal renal morphology OMIM:610253
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Renal hypoplasia, Short uvula, Polycystic kidney dysplasia, Cleft palate... OMIM:614091
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Chorea, Hypertonia ORPHA:52503
Rett Syndrome
Motor stereotypy, Stereotypical hand wringing, Bradykinesia, Abnormal autonomic nervous system ph... ORPHA:778
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Intestinal polyp, Lactose intolerance, Hypospadias ORPHA:457485
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Precocious puberty, Abnormality of the urinary system... ORPHA:813
Cdags Syndrome
Rectovaginal fistula, Rectourethral fistula, Anal atresia, Cleft palate, Hypospadias OMIM:603116
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Vesicoureteral reflux, Hypospadias ORPHA:494344
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias ORPHA:171430
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Abnormal morphology of female internal genitalia, Cryptorchidism, Clef... ORPHA:2311
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Cryptorchidism, Micropenis, Macroglossia, Protruding tongue, Hypospadias OMIM:141750
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Motor stereotypy ORPHA:927
Lowry-Maclean Syndrome
Hypospadias, High, narrow palate, Midgut malrotation, Pyloric stenosis, Bilateral cryptorchidism,... ORPHA:2409
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hydronephrosis, Micropenis, Megarectum, Duplicated collecting system, Vesicourete... OMIM:301056
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Cryptorchidism, Micropenis, Male pseudohermaphrodit... ORPHA:90796
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Tetraplegia, Progressive spasticity, Spastic... ORPHA:496641
Axenfeld-Rieger Syndrome
Hypospadias, Anal stenosis ORPHA:782
Distal Monosomy 9P
Hypoplastic labia majora, Hypospadias, High, narrow palate, Cleft palate ORPHA:1642
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Blepharospasm, Limb hypertonia, Athetosis, Tongue thrusting, Limb tremor, Exagge... OMIM:608643
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:435638
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Hypospadias, Micropenis OMIM:619718
Trisomy 13
Abnormality of the ureter, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryp... ORPHA:3378
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Cryptorchidism, Anal atresia, Pyloric stenosis, Bifid scrotum, Anteriorly placed anu... OMIM:619148
Toriello-Lacassie-Droste Syndrome
Abnormality of the ureter, Abnormal penis morphology, Aganglionic megacolon, Epispadias, Abnormal... ORPHA:3339
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias, Anal stenosis OMIM:601499
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Cryptorchidism, Intestinal malrotation, Anal atresia, Hypospadias OMIM:617602
Three M Syndrome 1
Hypospadias, Decreased testicular size OMIM:273750
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Hearing impairment OMIM:300958
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Bilateral cleft lip and palate, Macroorchidism, Ankyloglossia, Hypospadias OMIM:618874
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Bifid scrotum ORPHA:217346
Transketolase Deficiency
Attention deficit hyperactivity disorder, Hearing impairment, Motor stereotypy ORPHA:488618
Orofaciodigital Syndrome Type 4
Renal agenesis, Rectovaginal fistula, Absent testis, Bifid uvula, Perineal fistula, High, narrow ... ORPHA:2753
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Cryptorchidism, Hydronephrosis, Shawl scrotum, Micropenis, Macroglossia, Protrudi... OMIM:301040
Kleefstra Syndrome
Renal cyst, Cryptorchidism, Hydronephrosis, Micropenis, Hypoplasia of penis, Macroglossia, Pylori... ORPHA:261494
Myhre Syndrome
Bifid uvula, Abnormal penis morphology, Cryptorchidism, External genital hypoplasia, Submucous cl... ORPHA:2588
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias ORPHA:3224
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Micropenis, Anal atresia, Anteriorly placed anus, Hypoplasia of the uterus, H... OMIM:309801
Infantile Neuroaxonal Dystrophy
Abnormal pyramidal sign, Spastic tetraparesis, Hyperactivity, Ataxia, Abnormal autonomic nervous ... ORPHA:35069
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Renal sa... ORPHA:168558
Scarf Syndrome
Cryptorchidism, Perineal hypospadias, Micropenis, Bifid scrotum ORPHA:3134
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Micropenis, Shawl scrotum, Cleft palate, Hypospadias OMIM:600460
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Cryptorchidism, Micropenis, Shawl scrotum, Cleft soft palate, Male p... ORPHA:2282
19P13.12 Microdeletion Syndrome
Cryptorchidism, Precocious puberty, Hypospadias, Cleft palate ORPHA:254346
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Hypospadias OMIM:619272
Intellectual Disability-Strabismus Syndrome
High palate, Cryptorchidism, Micropenis, Medullary nephrocalcinosis, Hypospadias ORPHA:363528
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Renal sa... ORPHA:289548
Chromosome 9P Deletion Syndrome
Micropenis, High palate, Hypospadias, High, narrow palate OMIM:158170
Trisomy 20P
Ectopic anus, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Abnormality of the kidne... ORPHA:261318
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
High palate, Hypospadias ORPHA:363686
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Shawl scrotum, Epispadias, Hypospadias, Bifid scrotum ORPHA:2211
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Hypospadias ORPHA:439822
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
Hypoplastic labia majora, High palate, Glandular hypospadias, Shawl scrotum, Narrow palate, Hypos... OMIM:604314
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Bifid uvula, Renal hypoplasia/aplasia, Abnormal penis morphology, Hy... ORPHA:2461
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Hyperactivity, Tremor, Ataxia, Attention deficit hyperactivity disorder ORPHA:1942
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Micropenis, Vaginal dryness, Hypospadias, Cleft palate OMIM:106260
Trisomy 8Q
High palate, Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus, Cleft pala... ORPHA:1752
Chromosome 19Q13.11 Deletion Syndrome, Distal
Cryptorchidism, Hypospadias, Bifid scrotum OMIM:613026
Seckel Syndrome 1
High palate, Cryptorchidism, Cleft palate, Hypospadias, Clitoral hypertrophy OMIM:210600
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Microtia, Absent antihelix, Attention deficit hyperactivity disorder ORPHA:293939
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Cryptorchidism, High palate, Hypospadias OMIM:300260
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Micropenis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypospa... ORPHA:2959
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Attention deficit hyperactivity disorder, Hypertonia, Ataxia, Recurrent hand flapping OMIM:300986
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy ORPHA:397612
Van Maldergem Syndrome 2
High palate, Cryptorchidism, Renal hypoplasia, Micropenis, Bifid scrotum, Hypospadias OMIM:615546
Rapp-Hodgkin Syndrome
Hypoplastic labia majora, Bifid uvula, Velopharyngeal insufficiency, Cleft palate, Hypospadias OMIM:129400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Mild proteinuria, Renal insufficiency OMIM:619147
Nizon-Isidor Syndrome
Hypospadias, High, narrow palate OMIM:618872
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Choreoathetosis, Blepharospasm, Hyperactivity, Bradykinesi... OMIM:234200
Smith-Magenis Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Motor stereotypy ORPHA:819
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Action tremor, Lower limb spasticity, Ataxia, Bilateral sensorine... ORPHA:66634
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Low-set ears, Motor stereotypy, Hyperactivity, Lower limb spasticity, Clonus, P... ORPHA:447997
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Motor stereotypy ORPHA:1001
Contractures-Developmental Delay-Pierre Robin Syndrome
Glossoptosis, Hypospadias, High, narrow palate, Cleft palate ORPHA:436003
Fg Syndrome Type 1
High palate, Malrotation of colon, Cryptorchidism, Anal atresia, Pyloric stenosis, Abnormal large... ORPHA:93932
Baller-Gerold Syndrome
High palate, Rectovaginal fistula, Bifid uvula, Abnormality of the kidney, Perineal fistula, Anal... OMIM:218600
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Ataxia, Motor stereotypy ORPHA:2479
Cornelia De Lange Syndrome 1
Hiatus hernia, Hypoplastic labia majora, Ectopic kidney, Renal cyst, Reduced renal corticomedulla... OMIM:122470
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Renal cortical microcysts, Cryptorchidism, Hydronephrosis, High, narrow palate, Macr... OMIM:214100
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Glandular hypospadias, Hydronephrosis, Glossoptosi... ORPHA:1358
Ear-Patella-Short Stature Syndrome
Hypoplastic labia majora, Bifid uvula, Cryptorchidism, Hypoplastic labia minora, Clitoral hypopla... ORPHA:2554
Intellectual Developmental Disorder, X-Linked 98
Stereotypical hand wringing, Hyperactivity, Lower limb spasticity, Ataxia, Recurrent hand flappin... OMIM:300912
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Attention deficit hyperactivity disorder, Tremor, Motor stereotypy ORPHA:476126
Microphthalmia, Lenz Type
Hydroureter, Cryptorchidism, Hydronephrosis, Renal hypoplasia/aplasia, Hypospadias ORPHA:568
Bosma Arhinia Microphthalmia Syndrome
Hypoplastic labia majora, Hypogonadotropic hypogonadism, High palate, Cryptorchidism, Micropenis,... OMIM:603457
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Anteriorly placed anus, Hypospadias, Cleft palate OMIM:217980
Angelman Syndrome
Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusting, Optic disc pallor, Optic atroph... ORPHA:72
Opitz Gbbb Syndrome
High palate, Ectopic anus, Cryptorchidism, Hydronephrosis, Shawl scrotum, Tracheoesophageal fistu... ORPHA:2745
Scarf Syndrome
Cryptorchidism, Perineal hypospadias, Micropenis, Bifid scrotum OMIM:312830
Acrocardiofacial Syndrome
Cryptorchidism, Hypoplasia of penis, Anal atresia, Cleft palate, Hypospadias ORPHA:2008
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Intestinal malrotation, Hypoplasia of penis, Anal atresia, Abnormal localization ... ORPHA:2166
Chromosome 18Q Deletion Syndrome
Bifid uvula, Cryptorchidism, Micropenis, Cleft palate, Hypospadias OMIM:601808
Distal Trisomy 5Q
Cryptorchidism, Hypospadias ORPHA:96097
7Q11.23 Microduplication Syndrome
Large earlobe, Dysmetria, Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears, Abn... ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Cryptorchidism, Hypospadias, Bilateral cryptorchidism, Decreased testicular size OMIM:300998
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Jejunal atresia, Ileal atresia, Gonadal dy... OMIM:618820
Mosaic Variegated Aneuploidy Syndrome 1
Renal cyst, Cryptorchidism, Micropenis, Nephroblastoma, Cleft palate, Bifid scrotum, Ambiguous ge... OMIM:257300
Ellis-Van Creveld Syndrome
Cryptorchidism, Hypospadias, Epispadias OMIM:225500
White-Sutton Syndrome
Incoordination, Motor stereotypy, Sensorineural hearing impairment, Hyperactivity, Posteriorly ro... ORPHA:468678
Ring Chromosome 12 Syndrome
Cryptorchidism, Uterine leiomyoma, Glandular hypospadias, High, narrow palate ORPHA:1439
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal pyramidal sign, Motor stereotypy, Lobar holoprosencephaly, Optic nerve hypoplasia, Low-s... ORPHA:468631
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Renal tubular acidosis, Hypospadias OMIM:615471
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias ORPHA:1786
20Q13.33 Microdeletion Syndrome
Hypospadias, Decreased scrotal rugation ORPHA:261311
Meier-Gorlin Syndrome 3
Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia minora, Hypospadias, Clitoral hypert... OMIM:613803
Cystinosis
Abnormal pyramidal sign, Motor stereotypy ORPHA:213
Adenylosuccinase Deficiency
Opisthotonus, Low-set ears, Hyperactivity, Gait ataxia, Spasticity, Myoclonus OMIM:103050
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal agenesis, Renal cyst, Small scrotum, Septate vagina, Cryptorchid... OMIM:270400
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Ataxia, Recurrent hand flapping ORPHA:411511
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer OMIM:603688
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
High palate, Hypospadias OMIM:609944
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Duodenal stenosis, Recurrent urinary tract infections,... ORPHA:84
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Repetitive compulsive behavior, Choreoathetosis, Motor stereotypy, Athetoid cerebr... ORPHA:522077
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Hypospadias ORPHA:251071
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Abnormality of the ureter, Bifid uvula, Anal stenosis, Cryptorchidism... OMIM:145410
Microphthalmia, Syndromic 6
Aplasia of the optic tract OMIM:607932
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Cryptorchidism OMIM:616737
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Cryptor... ORPHA:289
Pentalogy Of Cantrell
Renal agenesis, Renal dysplasia, Hypospadias, Cleft palate ORPHA:1335
Van Maldergem Syndrome 1
High palate, Renal hypoplasia, Anal atresia, Anteriorly placed anus, Hypospadias OMIM:601390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Cleft palate OMIM:619184
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Cleft palate OMIM:313850
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormal ovarian morphology, Polycystic ovaries, Cryptorchidism, Micro... ORPHA:95699
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Male urethral meatus stenosis, High, narrow palate, Furrowed tongue,... ORPHA:464738
Brain-Lung-Thyroid Syndrome
Incoordination, Choreoathetosis, Intention tremor, Apraxia, Sensorineural hearing impairment, Inv... ORPHA:209905
3M Syndrome
Hypospadias ORPHA:2616
Opitz-Kaveggia Syndrome
Anal stenosis, Cryptorchidism, Intestinal malrotation, Anal atresia, Pyloric stenosis, Cleft pala... OMIM:305450
Ogden Syndrome
Low-set ears, Macrotia, Abnormal head movements, Torticollis, Hypertonia ORPHA:276432
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias ORPHA:293725
Fraser Syndrome
High palate, Ectopic anus, Small scrotum, Anal stenosis, Cryptorchidism, Renal hypoplasia, Abnorm... ORPHA:2052
Floating-Harbor Syndrome
Epididymal cyst, Nephrocalcinosis, Varicocele, Cryptorchidism, Hydronephrosis, Celiac disease, Co... OMIM:136140
Fryns Syndrome
Renal agenesis, Renal cyst, Ureteral duplication, Cryptorchidism, Hydronephrosis, Shawl scrotum, ... OMIM:229850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias OMIM:614052
3Q29 Microdeletion Syndrome
High palate, Horseshoe kidney, Hypospadias ORPHA:65286
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Spasticity, Limb hypertonia, Motor stereotypy ORPHA:457351
Kabuki Syndrome
High palate, Cryptorchidism, Hydronephrosis, Crossed fused renal ectopia, Hypoplasia of penis, Ab... ORPHA:2322
Cerebrofacioarticular Syndrome
Renal hypoplasia, Anteriorly placed anus, Hypospadias, Anal stenosis ORPHA:314679
Short Rib-Polydactyly Syndrome
Multiple glomerular cysts, Intestinal malrotation, Abnormality of the kidney, Polycystic kidney d... ORPHA:1505
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Abnormal penis morphology, Cryptorchidism, High, narrow palate, External genital hyp... ORPHA:2658
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Horseshoe kidney, Cryptorchidism, High, narrow palate, Renal dysplasia, Precocious puberty, Esoph... ORPHA:96182
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Ataxia OMIM:610042
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Hearing impairment, Optic nerve dysplasia, Tongue thrusting, Posteri... OMIM:115150
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Cryptorchidism, Hydronephrosis, Micropenis, Pelvic kidney,... ORPHA:464311
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Renal cyst, Micropenis, Cleft palate ORPHA:1692
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Low-set ears, Motor stereotypy ORPHA:457279
Rett Syndrome, Congenital Variant
Apraxia, Athetosis, Tongue thrusting, Spasticity, Chorea, Protruding ear OMIM:613454
Craniofrontonasal Syndrome
Cryptorchidism, Shawl scrotum, Hypospadias, Cleft palate OMIM:304110
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Hyperactivity, Microtia, Tongue thrusting, Stereotypical body rocking ORPHA:261323
Dyrk1A-Related Intellectual Disability Syndrome