Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
Hypospadias 1, X-Linked |
|
Perineal hypospadias |
OMIM:300633 |
Hypospadias 2, X-Linked |
|
Penoscrotal hypospadias |
OMIM:300758 |
Hypospadias 3, Autosomal |
|
Hypospadias |
OMIM:146450 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
15q24 recurrent microdeletion syndrome |
|
Hypospadias |
DECIPHER:66 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou... |
ORPHA:753 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias |
ORPHA:3176 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Glandular hypospadias |
OMIM:176305 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:261204 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypospadias |
OMIM:179250 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... |
ORPHA:93928 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... |
ORPHA:456328 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cleft palate |
OMIM:302905 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Renal dysplasia |
OMIM:615985 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Radial Aplasia, X-Linked |
|
Penile hypospadias, Anal atresia |
OMIM:312190 |
Lambert Syndrome |
|
Hypospadias |
OMIM:245550 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias |
ORPHA:1355 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias, Anal atresia |
ORPHA:1381 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617830 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Low-set ears |
ORPHA:436151 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Displacement of the urethral meatus, Intestinal malrotation |
ORPHA:2301 |
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Hypospadias |
ORPHA:2261 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Renal cyst, Hypospadias, Cleft palate |
OMIM:231060 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Otoonychoperoneal Syndrome |
|
Hypospadias |
OMIM:259780 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypospadias |
ORPHA:2252 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Cryptorchidism, Esophageal atresia, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... |
OMIM:609425 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:250994 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate |
ORPHA:1703 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Phenobarbital Embryopathy |
|
Hypospadias |
ORPHA:1919 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment, Aggressive behavior |
OMIM:248510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of... |
ORPHA:139466 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:612626 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... |
OMIM:618718 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... |
ORPHA:83628 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619690 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... |
OMIM:620141 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
OMIM:101805 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypospadias |
ORPHA:1548 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:2508 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2973 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Hypospadias, Abnormal intestine morphology |
ORPHA:3080 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Hypospadias |
ORPHA:276422 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:618815 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:2013 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cryptorchidism, Coronal hypospadias, Abnormal localization of kidney, Cleft palate |
ORPHA:921 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Gastritis, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum |
ORPHA:2575 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
Trisomy 4P |
|
Cryptorchidism, Hypospadias |
ORPHA:1738 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias |
OMIM:300934 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... |
ORPHA:227 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Micropenis, Hypospadias, Hypercalciuria |
OMIM:614732 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias |
OMIM:620135 |
Lambert Syndrome |
|
Hypospadias |
ORPHA:1296 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Male hypogonadism, Decreased testicu... |
ORPHA:163971 |
Fg Syndrome 5 |
|
Hypospadias |
OMIM:300581 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias |
OMIM:301045 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... |
OMIM:601346 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Hypospadias |
OMIM:618688 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hypospadias, High palate, Anal atresia |
ORPHA:2863 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Seckel Syndrome 2 |
|
Microglossia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Attention d... |
OMIM:618342 |
Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Hypospadias, Ectopic kidney |
OMIM:300919 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia |
OMIM:300558 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, High, narrow palate, Cryptorchidism, Micropenis, Bifid uvula |
ORPHA:2872 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Test... |
OMIM:180860 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Laurence-Moon Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus |
ORPHA:2377 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... |
OMIM:614104 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias |
OMIM:618330 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Hypospadias |
OMIM:619759 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism |
ORPHA:561854 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Macroglossia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:300354 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te... |
OMIM:610198 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate |
ORPHA:66629 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, High palate, Hypospadias |
ORPHA:1913 |
Teebi Hypertelorism Syndrome 2 |
|
Cleft palate, High palate, Hypospadias |
OMIM:619736 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Hypospadias |
ORPHA:544254 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Micropenis, Decreased testicular size |
OMIM:300978 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... |
OMIM:617695 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Hypospadias, Tracheoesophageal fistula |
ORPHA:1923 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... |
OMIM:182290 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, High palate, Hypospadias, Shawl scrotum |
OMIM:239710 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Hypospadias |
OMIM:618972 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... |
OMIM:140000 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Cleft palate, Micropenis, Bifid uvula |
OMIM:614175 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney |
OMIM:218350 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Microphallus |
ORPHA:397590 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Shawl scrotum, Micropenis |
OMIM:617516 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Stereotypical hand wringing, Abnormal temper tantrums, Skin-p... |
ORPHA:163681 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl... |
ORPHA:2538 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias |
OMIM:615761 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
47,Xyy Syndrome |
|
Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micropenis, Varicocele |
ORPHA:8 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Female external genitalia in individual... |
ORPHA:90791 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... |
OMIM:610644 |
Diamond-Blackfan Anemia 5 |
|
Hypospadias |
OMIM:612528 |
Craniofrontonasal Dysplasia |
|
High palate, Hypospadias, Shawl scrotum |
ORPHA:1520 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements |
ORPHA:71518 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias |
OMIM:619334 |
Christianson Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A... |
ORPHA:2438 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:175700 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, Macroglos... |
ORPHA:3376 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Labial hypoplas... |
OMIM:164745 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... |
ORPHA:3306 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Seckel Syndrome 5 |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy |
OMIM:613823 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala... |
ORPHA:2075 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Hearing impairment, Oral-pharyngeal dysphagia |
OMIM:610883 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:619092 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms |
ORPHA:280763 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Esophagitis |
ORPHA:79350 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, Anteriorly placed an... |
ORPHA:2315 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, High palate, Hypospadias |
OMIM:614541 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal |
OMIM:611812 |
Xq28 (MECP2) duplication |
|
Macrotia, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias, Abnormality of the kidney |
ORPHA:1194 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Cryptorchidism, Renal atrophy, Hypospadias |
OMIM:618659 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate |
OMIM:606851 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Endometriosis, Unilat... |
ORPHA:363444 |
Buratti-Harel Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... |
OMIM:619314 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Cleft palate, High palate, Hypospadias |
ORPHA:1784 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Hypospadias, Horseshoe kidney |
ORPHA:2319 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Posteriorly rotated ears, Low-set ears, Compulsive behavio... |
OMIM:618027 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Microphallus, Anal atresia, Intestinal atresia |
ORPHA:94065 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Attention ... |
ORPHA:401777 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Hypospadias |
OMIM:614613 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:220210 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, High palate, Hypospadias |
ORPHA:98791 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum |
ORPHA:2505 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Enuresis, Labial hypoplasia |
OMIM:619293 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Compulsive behaviors,... |
OMIM:618430 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Abnormal pinna morphology, Hearing impairment, Aggressive behavior, Optic atrophy,... |
OMIM:123450 |
Marden-Walker Syndrome |
|
Hypospadias, High, narrow palate, Cryptorchidism, Pyloric stenosis, Renal hypoplasia, Cleft palat... |
OMIM:248700 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Bifid uterus, ... |
OMIM:258040 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears |
OMIM:613443 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias |
OMIM:616489 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Cryptorchidism, High palate, Renal dysplasia, Hypospadias |
OMIM:300004 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe |
ORPHA:411986 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Hearing impairment, Bruxism |
OMIM:616351 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Hypospadias, Bifid uvula |
OMIM:164220 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypospadias, Hypoplastic female external genitalia |
OMIM:177980 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... |
ORPHA:93111 |
Huntington Disease-Like 1 |
|
Restlessness, Jerky head movements, Abnormal head movements |
ORPHA:157941 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Hor... |
OMIM:619103 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Aggressive behavior, Progressive hearing impairment, Disinhibi... |
ORPHA:43 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur... |
ORPHA:90793 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias |
ORPHA:2115 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms, Low-set ears, Sensorineural hearing impairment |
OMIM:617751 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cryptorchidism, Hypospadias |
ORPHA:500159 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Cryptorchidism, Cleft palate, High palate, Congenital posteri... |
OMIM:300000 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Dysphagia |
ORPHA:240103 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:616897 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Cryptorchidism, Cleft palate, High palate, Micropenis, Penoscrotal hypospadias |
OMIM:617164 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Cryptorchidism, Hypospadias, Intestinal malrotation |
OMIM:618316 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, Cleft palate, Ecto... |
ORPHA:7 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ... |
OMIM:617053 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Cryptorchidism, Megarectum, Vesicoureteral reflux, Mic... |
OMIM:301056 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:300986 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Hypospadias |
ORPHA:494344 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617807 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:435938 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias |
OMIM:618253 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias |
ORPHA:782 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, High, narrow palate, Cryptorchidism, Pyloric stenosis, Narrow ... |
ORPHA:96169 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pyloric stenosis, High ... |
ORPHA:912 |
Episodic Ataxia Type 4 |
|
Abnormal head movements |
ORPHA:79136 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Intestinal polyp, Lactose intolerance, Hypospadias |
ORPHA:457485 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Polycystic kid... |
OMIM:614091 |
Kleefstra Syndrome 1 |
|
Hypospadias, Protruding tongue, Cryptorchidism, Abnormal renal morphology, Macroglossia, Micropenis |
OMIM:610253 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Macrotia, Self-biting, Stereotypical body rocking, B... |
OMIM:300912 |
Distal Deletion 9P |
|
Hypoplastic labia majora, High, narrow palate, Hypospadias, Cleft palate |
ORPHA:1642 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias |
OMIM:619718 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Hypospadias |
OMIM:618156 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias |
ORPHA:171430 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Abnormality of the ureter, Cleft palate, Abnormal morphology of fema... |
ORPHA:2311 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
High palate, Hypospadias |
ORPHA:363686 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Cryptorchidism, High palate, Micropenis, Medullary nephrocalcinosis |
ORPHA:363528 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618336 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Lowry-Maclean Syndrome |
|
Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,... |
ORPHA:2409 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidism, Ankyloglossia |
OMIM:618874 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Hypospadias |
ORPHA:3224 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Anal stenosis, Hypospadias |
OMIM:601499 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Bilateral cryptorchidism, Chordee, Renal dysplasia |
ORPHA:96179 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Hypospadias |
OMIM:619272 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Large earlobe, Attention deficit hyperactivity disorder, Dyspha... |
OMIM:619312 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Micropenis, Vaginal dryness, Hypospadias, Cleft palate |
OMIM:106260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Cryptorchidism, High palate, Hypospadias |
OMIM:300260 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Pyloric stenosis, Renal cy... |
ORPHA:261494 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Cleft palate |
ORPHA:254346 |
Trisomy 13 |
|
High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft palate, Multiple renal cyst... |
ORPHA:3378 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Pyloric stenosis, Penoscrotal transposition, Anterior... |
OMIM:619148 |
Three M Syndrome 1 |
|
Hypospadias, Decreased testicular size |
OMIM:273750 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
ORPHA:217346 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cleft palate, Furrowed tongue, High palate, Hydronephrosis, Clitoral hypertrophy |
OMIM:616449 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Cleft palate, Glosso... |
OMIM:611209 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Compulsive behaviors, Abnormal r... |
OMIM:613174 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Cleft p... |
OMIM:257300 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Monorchism, Renal agenesis, Renal hypoplasia/aplasia, High, narrow pal... |
ORPHA:2753 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggres... |
OMIM:619121 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... |
ORPHA:2588 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia |
OMIM:617802 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Micropenis, Perineal hypospadias |
ORPHA:3134 |
Snijders Blok-Campeau Syndrome |
|
Low-set ears, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618205 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula |
OMIM:619859 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Hypospadias |
OMIM:618109 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:603116 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of... |
OMIM:309801 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Micropenis, Small scrotum, Hypospadias |
OMIM:607143 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora, High palate, Shawl s... |
OMIM:604314 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum |
ORPHA:2211 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:168558 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Cleft palate, Shawl scrotum, Micropenis |
OMIM:600460 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc... |
ORPHA:2282 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:289548 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:10 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Seckel Syndrome 1 |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy |
OMIM:210600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
OMIM:619435 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:439822 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Trisomy 8Q |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate, High palate, Displacement of the urethral meat... |
ORPHA:1752 |
Nizon-Isidor Syndrome |
|
High, narrow palate, Hypospadias |
OMIM:618872 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... |
ORPHA:93932 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Hypospadias, Cleft palate |
ORPHA:436003 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Narrow palate, Anteriorly placed anus, Hypoplastic labia majora, High... |
OMIM:123790 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:613026 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... |
OMIM:617063 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Attention... |
OMIM:619575 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Sensorineur... |
OMIM:616364 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
Chromosome 9P Deletion Syndrome |
|
Hypospadias, High, narrow palate, Narrow palate, High palate, Micropenis |
OMIM:158170 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... |
OMIM:619695 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, Cryptorchidis... |
ORPHA:2166 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa... |
ORPHA:2745 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Micropenis, Hypergonadotropic hypogonadism, Hypospadias, Bifid uvula |
ORPHA:2959 |
Rett Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Abnormal autonomic nervous system physiology, Stereoty... |
ORPHA:778 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Macroglossia, Aminoaciduria,... |
OMIM:214100 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Anal atresia |
OMIM:617602 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cryptorchidism, Hypoplastic la... |
ORPHA:2554 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Protruding tongue, Cryptorchidism, Macroglossia, Shawl scrotum, Micr... |
OMIM:301040 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric steno... |
OMIM:122470 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... |
ORPHA:1358 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Anteriorly placed anus, High palate... |
OMIM:615546 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias, Cleft palate |
OMIM:603736 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness |
OMIM:616579 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Hypoplasia of penis, 3-Methylglutaconic aciduria, Perineal hypospadias |
ORPHA:66634 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Bifid uvula |
OMIM:601808 |
20Q13.33 Microdeletion Syndrome |
|
Hypospadias, Decreased scrotal rugation |
ORPHA:261311 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... |
OMIM:300352 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
ORPHA:1786 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... |
OMIM:616393 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Anal atresia |
ORPHA:2008 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Bilateral cryptorchidism, Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300998 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteriorly placed anus, Cryptorchidism, Hypospadias, Cleft palate |
OMIM:217980 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Micropenis, Perineal hypospadias |
OMIM:312830 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Self-injurious behavior, Abnormal repetitive mannerisms, Attention... |
ORPHA:819 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri... |
OMIM:300661 |
Ellis-Van Creveld Syndrome |
|
Epispadias, Hypospadias, Cryptorchidism |
OMIM:225500 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:620331 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Prostate cancer |
OMIM:603688 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Hypospadias, Aganglionic megacolon, Intestinal malrotation, ... |
OMIM:229850 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Cleft palate |
OMIM:313850 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Anteriorly placed anus, High palate, Anal atresia |
OMIM:601390 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias |
ORPHA:96097 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Clitoral hypert... |
OMIM:613803 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Uterine leiomyoma, Glandular hypospadias, Cryptorchidism |
ORPHA:1439 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Cleft palate |
OMIM:619184 |
Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... |
OMIM:212066 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H... |
ORPHA:464738 |
3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity... |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Hypospadias, Aplasia/Hypoplasia of the uvula, Cryptorchid... |
ORPHA:84 |
Microphthalmia, Syndromic 6 |
|
Aplasia of the optic tract |
OMIM:607932 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, High palate, Hypospadias |
ORPHA:251071 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Hypoplastic labia major... |
OMIM:603457 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Cleft palat... |
OMIM:305450 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... |
ORPHA:289 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Sensorineural hearin... |
OMIM:619512 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... |
ORPHA:261197 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, High palate, ... |
OMIM:620083 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Renal tubular acidosis, Hypospadias |
OMIM:615471 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, O... |
ORPHA:468678 |
Cerebrofacioarticular Syndrome |
|
Anteriorly placed anus, Anal stenosis, Hypospadias, Renal hypoplasia |
ORPHA:314679 |
Pentalogy Of Cantrell |
|
Renal agenesis, Hypospadias, Renal dysplasia, Cleft palate |
ORPHA:1335 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
High palate, Hypospadias |
OMIM:609944 |
3M Syndrome |
|
Hypospadias |
ORPHA:2616 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:615656 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Velopharyngeal insufficiency, Cleft palate, Hypoplastic labia majora, Bifid uvula |
OMIM:129400 |
3Q29 Microdeletion Syndrome |
|
High palate, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, High, narrow pal... |
ORPHA:2658 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypos... |
OMIM:270400 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Precocious puberty, High, narrow palate, Cryptorchidism, Horseshoe kidney, Esophagit... |
ORPHA:96182 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man... |
OMIM:606232 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Hydrocephal... |
ORPHA:96121 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Glandular hypospadias, Cleft soft palate |
ORPHA:293725 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... |
ORPHA:476126 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Multicystic kidney dysplasia, Cry... |
ORPHA:2052 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Cryptorchidism, Cleft palate, Renal cyst, High palate, Polycystic kidney dysplasia, ... |
OMIM:614866 |
Rett Syndrome, Congenital Variant |
|
Protruding ear, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cryptorchidism, 3-Methylglutaconic aciduria, Hypospadias |
OMIM:614052 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Micropenis, Pelvic kidney, Hy... |
ORPHA:464311 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
3Mc Syndrome 2 |
|
Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate |
OMIM:265050 |
Dubowitz Syndrome |
|
Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ... |
ORPHA:235 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
ORPHA:496641 |
Baller-Gerold Syndrome |
|
Abnormality of the kidney, Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal f... |
OMIM:218600 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Cleft palate, Micropenis, Penile hypospadias |
ORPHA:1692 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Pyloric stenosis, Renal cyst, Micropenis,... |
ORPHA:464306 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypospadias, Urogenital sinus anomaly, High palate, Ambiguous genitalia, Abnormal ... |
ORPHA:96176 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic... |
OMIM:269150 |
Alg12-Cdg |
|
Cryptorchidism, Micropenis, Hypospadias, Intestinal malrotation |
ORPHA:79324 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechogenic kidneys, Renal dysplasia |
ORPHA:397715 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:2479 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cry... |
ORPHA:3107 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Hyperactivity, Otosclerosis, Impulsivity, Aggressive be... |
ORPHA:580 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressive behavior |
ORPHA:457279 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Micropenis, Hypospadias |
OMIM:613673 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:457351 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Esophageal atresia, Micropenis |
OMIM:206900 |
Craniofrontonasal Syndrome |
|
Cryptorchidism, Hypospadias, Cleft palate, Shawl scrotum |
OMIM:304110 |
Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Ureteral obstruction, Cleft palate, Glossoptosis, Hydronephrosis |
ORPHA:90652 |
Brain-Lung-Thyroid Syndrome |
|
Vesicoureteral reflux, Hypospadias, Megacystis |
ORPHA:209905 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglioni... |
ORPHA:818 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Hypospadias, Chordee |
OMIM:618891 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney... |
ORPHA:857 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... |
ORPHA:261552 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal collecting s... |
ORPHA:468631 |
Ogden Syndrome |
|
Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Penile hypospadias |
ORPHA:73230 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Hypospadias |
OMIM:210720 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Anal atresia, Ectopic anus, Hypospadias, Cleft palate |
ORPHA:85199 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias |
OMIM:620306 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Hypoplasia of the ovary, Ap... |
OMIM:151100 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia, Labial hypoplasia |
OMIM:147791 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Spina bifida occ... |
OMIM:301030 |
Acrocallosal Syndrome |
|
Hypospadias, Protruding tongue, Cryptorchidism, Cleft palate, High palate, Rectovaginal fistula, ... |
OMIM:200990 |
Den Hoed-De Boer-Voisin Syndrome |
|
Posteriorly rotated ears, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical han... |
OMIM:619229 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Multicystic kidney dysplasia, R... |
OMIM:107480 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... |
ORPHA:1896 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig... |
ORPHA:3063 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate |
OMIM:265000 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Hypospadias, Abnormal localization of kidney |
ORPHA:500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal rectum m... |
ORPHA:2556 |
Craniofacioskeletal Syndrome |
|
Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:300712 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Galactosuria, Renal cortical microcysts, Bifid uvula |
OMIM:222470 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Micropenis, Hydronephrosis |
ORPHA:163979 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Chordee, Microglossia |
OMIM:151050 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Premature thelarche, Unilater... |
ORPHA:268261 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma... |
OMIM:615485 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... |
OMIM:265380 |
X-Linked Intellectual Disability, Nascimento Type |
|
Vesicoureteral reflux, Cryptorchidism, Micropenis, Hypospadias |
ORPHA:163956 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Abnormal... |
ORPHA:17 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate |
OMIM:223370 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... |
OMIM:211380 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... |
ORPHA:495875 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,... |
OMIM:305000 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, High palate, M... |
OMIM:609945 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage... |
OMIM:192350 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Cryptorchidism, Grade III ... |
OMIM:619522 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Micropenis, Hypospadias |
OMIM:619479 |
Monosomy 9P |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureteropelvic juncti... |
ORPHA:261112 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney... |
OMIM:618280 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... |
OMIM:102500 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Unilateral cleft palate, Absent external genitalia, Submucous cleft hard palat... |
ORPHA:1299 |
Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration, Chordee, Hypospadias |
OMIM:176690 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Head titubation, Repetitiv... |
OMIM:619475 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Jejunal atresia, Bilateral renal dysplasia, Prot... |
OMIM:619488 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Meckel diverticulum, Hypospadias, Horseshoe kidney |
ORPHA:1708 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal... |
OMIM:219000 |
Pitt-Hopkins Syndrome |
|
Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms |
OMIM:610954 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Cleft palate, Abnormal localization of... |
ORPHA:1596 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th... |
ORPHA:2044 |
Hartsfield Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Cleft palate |
OMIM:615465 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Hypospadias, Nephroblastoma, Abnormality of the ureter, Neph... |
ORPHA:798 |
Osteoglophonic Dysplasia |
|
Cryptorchidism, Chordee, High palate, Hypospadias |
OMIM:166250 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:319182 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephro... |
OMIM:136140 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Bladder exstrophy, High palate, Hypospadias |
OMIM:210730 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Precocious puberty, Cryptor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Precocious puberty, Cryptor... |
ORPHA:363958 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Chordee, Hypospadias |
ORPHA:477993 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Renal hypoplasia, Cle... |
ORPHA:567 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele |
OMIM:616734 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting |
ORPHA:522077 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Cryptorchidism, Re... |
ORPHA:1606 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Urethral stenosis, Tracheoesophageal fistula, Oral leukoplaki... |
ORPHA:1775 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear... |
OMIM:615873 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria |
OMIM:252010 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hajdu-Cheney Syndrome |
|
Multiple renal cysts, Hypospadias, Intestinal malrotation, Cleft palate |
ORPHA:955 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias, Duodenal atresia |
OMIM:618846 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Renal dysplasia, Small scrotum, Hypospadias, Unilateral renal agenesis... |
ORPHA:672 |
Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, High palate, Decreased testicular size, An... |
OMIM:309500 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Cryptorchidism, ... |
OMIM:180849 |
Vici Syndrome |
|
Penile hypospadias, High palate, Median cleft palate, Cleft palate |
OMIM:242840 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Cryptorchidism, Fet... |
OMIM:619841 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... |
ORPHA:2911 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Horseshoe kidney, Macroglossia, Glossoptosis, High palate, Vesicoureteral reflux |
ORPHA:444077 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Cryptorchidism,... |
OMIM:135900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Cryptorchidism, Micropenis, High palate, Hypospadias |
OMIM:309590 |
Coffin-Siris Syndrome |
|
Cryptorchidism, Hypospadias, Horseshoe kidney |
ORPHA:1465 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Cleft palate, Abnormality of the urinary ... |
ORPHA:280 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Hypereosinophilia |
ORPHA:508533 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal malrotation, Renal ins... |
ORPHA:199 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Cleft palate, Hydrocele testis, Hypogonadism, Median cleft palate, Bifid uvula |
ORPHA:1449 |
6Q Terminal Deletion Syndrome |
|
High, narrow palate, Hypospadias, Phimosis |
ORPHA:75857 |
Campomelic Dysplasia |
|
Hypospadias, Submucous cleft hard palate, Cleft palate, Sex reversal, High palate, Hydronephrosis |
OMIM:114290 |
Yunis-Varon Syndrome |
|
Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renovascular hypertension, Hy... |
ORPHA:3472 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Cleft soft palate, Hypospadias, Horseshoe kidney, High palate, Adenocarcinoma of ... |
ORPHA:124 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hi... |
OMIM:309580 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Bruxism |
OMIM:619297 |
Hunter-Macdonald Syndrome |
|
Hypospadias |
OMIM:611962 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Cryptorchidism, Nephroli... |
ORPHA:353281 |
Peters Plus Syndrome |
|
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypopl... |
ORPHA:709 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Hypospadias, Anal atresia |
OMIM:180500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, Agitation, Abnormal autonomic n... |
ORPHA:217253 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p... |
OMIM:619325 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... |
ORPHA:353277 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overfolded helix, Abnormal repetitive mannerisms, Low-set ears |
OMIM:618653 |
Noonan Syndrome 1 |
|
Hypospadias, High, narrow palate, Cryptorchidism, Cleft palate, High palate, Hypogonadism |
OMIM:163950 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe, Abnormal repe... |
OMIM:617330 |
Developmental And Epileptic Encephalopathy 100 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:619777 |
Orofaciodigital Syndrome Xiv |
|
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Anterio... |
OMIM:615948 |
Tibial Hemimelia |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias, Cleft palate |
ORPHA:93322 |
Kbg Syndrome |
|
Epispadias, Cryptorchidism |
OMIM:148050 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasi... |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft pala... |
OMIM:312870 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Cleft palate, Abnormal vagina morphology, Hydronephrosis |
OMIM:236680 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Phimosis, High, narrow palate, Male urethral meatus steno... |
OMIM:613406 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
ORPHA:459070 |
Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Anteverted ears, Prominent antitragus, Optic atrophy, Prominent antihel... |
OMIM:616268 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Septate vagina, ... |
ORPHA:261537 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Ectopic kidney, Cryptorchidism, Submucous cleft hard pa... |
OMIM:607872 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Attentio... |
OMIM:614756 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Overfolded helix, Abnormal repetitive mannerisms, Semilobar holoprosenc... |
OMIM:301044 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... |
ORPHA:2152 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Renal hypoplasia, Cl... |
OMIM:261540 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Bifid uvula |
OMIM:300166 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Aminoacidur... |
OMIM:619991 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, W... |
ORPHA:3455 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Jerky head movements, Low-set ears, Hearing impairment |
ORPHA:369837 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Urethrovaginal fistula, M... |
OMIM:243800 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Abnor... |
ORPHA:513456 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Hypospadias, Aganglionic megacolon, Abnormality of the kidney, Cryptorchidism, Pyl... |
OMIM:235730 |
Restrictive Dermopathy |
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Ureteral duplication, Submucous cleft hard palate, Hypospadias, Microcolon |
ORPHA:1662 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Long penis, Hypospadias |
OMIM:264090 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, Abnormality of the... |
ORPHA:821 |
Restrictive Dermopathy 1 |
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Ureteral duplication, Submucous cleft hard palate, Hypospadias |
OMIM:275210 |
Oculocerebrorenal Syndrome Of Lowe |
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Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, Compulsive behaviors,... |
ORPHA:534 |
Orofaciodigital Syndrome Type 14 |
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Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Cleft palat... |
ORPHA:434179 |
Roberts-Sc Phocomelia Syndrome |
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Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Horseshoe kidney, B... |
OMIM:268300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena... |
OMIM:308205 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Anteriorly placed anus, Ketonuria, Hypospadias |
OMIM:220111 |
Norrie Disease |
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Sensorineural hearing impairment, Optic atrophy, Protruding ear, Self-injurious behavior, Abnorma... |
ORPHA:649 |
Alzahrani-Kuwahara Syndrome |
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Hypospadias |
OMIM:619268 |
Ogden Syndrome |
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Protruding ear, Low-set ears, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
OMIM:300855 |
Branchiooculofacial Syndrome |
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Hypospadias, Renal agenesis, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Cleft palate... |
OMIM:113620 |
Sponastrime Dysplasia |
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Precocious puberty, Hypospadias |
ORPHA:93357 |
Otopalatodigital Syndrome, Type Ii |
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Cryptorchidism, Hypospadias, Hydronephrosis, Cleft palate |
OMIM:304120 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... |
OMIM:612474 |
Microphthalmia, Syndromic 1 |
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Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, High, narrow palate, R... |
OMIM:309800 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Renovascular hypertension, Bladder d... |
ORPHA:286 |
Pallister-Killian Syndrome |
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Renal dysplasia, Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidis... |
OMIM:601803 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced... |
OMIM:259050 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms |
OMIM:616682 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Yunis-Varon Syndrome |
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Hypospadias, Pyloric stenosis, Cryptorchidism, High palate, Micropenis |
OMIM:216340 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Renal agenesis, Coronal hypospadias, Xerostomia, Nephrosclerosis, Aplasi... |
OMIM:149730 |
Bleeding Disorder, Platelet-Type, 22 |
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OMIM:618462 |